AFG2A[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 797

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 1182886	NM_145207.3(AFG2A):c.-2C>T	AFG2A	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3372979	NM_145207.3(AFG2A):c.-1C>T	AFG2A	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 664832	NM_145207.3(AFG2A):c.1A>T (p.Met1Leu)	AFG2A (M1L)	Single nucleotide variant (missense variant +1 more)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 653800	NM_145207.3(AFG2A):c.1A>G (p.Met1Val)	AFG2A (M1V)	Single nucleotide variant (missense variant +1 more)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 203533	NM_145207.3(AFG2A):c.1A>C (p.Met1Leu)	AFG2A (M1L)	Single nucleotide variant (missense variant +1 more)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +2 more	GConflicting classifications of pathogenicity
Select item 475728	NM_145207.3(AFG2A):c.2T>C (p.Met1Thr)	AFG2A (M1T)	Single nucleotide variant (missense variant +1 more)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1355099	NM_145207.3(AFG2A):c.4T>C (p.Ser2Pro)	AFG2A (S2P)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2056929	NM_145207.3(AFG2A):c.10A>T (p.Lys4Ter)	AFG2A (K4*)	Single nucleotide variant (nonsense)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GPathogenic
Select item 982889	NM_145207.3(AFG2A):c.12GAA[1] (p.Lys5del)	AFG2A (K5del)	Microsatellite (inframe_deletion)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1004908	NM_145207.3(AFG2A):c.13A>G (p.Lys5Glu)	AFG2A (K5E)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 805522	NM_145207.3(AFG2A):c.14A>G (p.Lys5Arg)	AFG2A (K5R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947507	NM_145207.3(AFG2A):c.15G>A (p.Lys5=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 1047476	NM_145207.3(AFG2A):c.15G>C (p.Lys5Asn)	AFG2A (K5N)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 940413	NM_145207.3(AFG2A):c.16A>G (p.Asn6Asp)	AFG2A (N6D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2158983	NM_145207.3(AFG2A):c.26G>A (p.Arg9Gln)	AFG2A (R9Q)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1147179	NM_145207.3(AFG2A):c.28T>C (p.Leu10=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 2014058	NM_145207.3(AFG2A):c.39C>T (p.Ser13=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 1302070	NM_145207.3(AFG2A):c.45A>C (p.Glu15Asp)	AFG2A (E15D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1532132	NM_145207.3(AFG2A):c.54G>C (p.Ser18=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 1961320	NM_145207.3(AFG2A):c.57C>T (p.Ser19=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 1057149	NM_145207.3(AFG2A):c.59T>C (p.Leu20Ser)	AFG2A (L20S)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1579040	NM_145207.3(AFG2A):c.61C>T (p.Pro21Ser)	AFG2A (P21S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 566797	NM_145207.3(AFG2A):c.65C>G (p.Ser22Cys)	AFG2A (S22C)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 862434	NM_145207.3(AFG2A):c.71C>G (p.Ala24Gly)	AFG2A (A24G)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 3092932	NM_145207.3(AFG2A):c.74C>G (p.Ser25Cys)	AFG2A (S25C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1159854	NM_145207.3(AFG2A):c.75C>T (p.Ser25=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 1449361	NM_145207.3(AFG2A):c.77C>T (p.Ser26Phe)	AFG2A (S26F)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 858588	NM_145207.3(AFG2A):c.77C>G (p.Ser26Cys)	AFG2A (S26C)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2217509	NM_145207.3(AFG2A):c.80G>T (p.Cys27Phe)	AFG2A (C27F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 475736	NM_145207.3(AFG2A):c.80G>C (p.Cys27Ser)	AFG2A (C27S)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GBenign
Select item 1306829	NM_145207.3(AFG2A):c.84G>A (p.Ala28=)	AFG2A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1069922	NM_145207.3(AFG2A):c.85G>T (p.Glu29Ter)	AFG2A (E29*)	Single nucleotide variant (nonsense)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GPathogenic
Select item 1519824	NM_145207.3(AFG2A):c.89C>T (p.Ala30Val)	AFG2A (A30V)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1500837	NM_145207.3(AFG2A):c.89C>G (p.Ala30Gly)	AFG2A (A30G)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 945387	NM_145207.3(AFG2A):c.92G>A (p.Arg31Gln)	AFG2A (R31Q)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1570039	NM_145207.3(AFG2A):c.93G>A (p.Arg31=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 2147835	NM_145207.3(AFG2A):c.97C>G (p.Pro33Ala)	AFG2A (P33A)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1047007	NM_145207.3(AFG2A):c.97C>T (p.Pro33Ser)	AFG2A (P33S)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1471564	NM_145207.3(AFG2A):c.100_102del (p.Ser34del)	AFG2A (S34del)	Deletion (inframe_deletion)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2189681	NM_145207.3(AFG2A):c.101C>A (p.Ser34Tyr)	AFG2A (S34Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1659978	NM_145207.3(AFG2A):c.102T>A (p.Ser34=)	AFG2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 798292	NM_145207.3(AFG2A):c.105T>C (p.Ala35=)	AFG2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1452126	NM_145207.3(AFG2A):c.110C>G (p.Ser37Ter)	AFG2A (S37*)	Single nucleotide variant (nonsense)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GPathogenic
Select item 1652540	NM_145207.3(AFG2A):c.120G>C (p.Ala40=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 1132776	NM_145207.3(AFG2A):c.120G>T (p.Ala40=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 862604	NM_145207.3(AFG2A):c.124A>G (p.Thr42Ala)	AFG2A (T42A)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2110636	NM_145207.3(AFG2A):c.125C>T (p.Thr42Ile)	AFG2A (T42I)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 841581	NM_145207.3(AFG2A):c.127T>A (p.Ser43Thr)	AFG2A (S43T)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1800579	NM_145207.3(AFG2A):c.128C>A (p.Ser43Tyr)	AFG2A (S43Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 963159	NM_145207.3(AFG2A):c.128C>G (p.Ser43Cys)	AFG2A (S43C)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 658742	NM_145207.3(AFG2A):c.133A>G (p.Thr45Ala)	AFG2A (T45A)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2009221	NM_145207.3(AFG2A):c.135T>C (p.Thr45=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 1310545	NM_145207.3(AFG2A):c.149A>G (p.Asn50Ser)	AFG2A (N50S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1092197	NM_145207.3(AFG2A):c.151T>C (p.Leu51=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 1649752	NM_145207.3(AFG2A):c.154T>C (p.Leu52=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 1948454	NM_145207.3(AFG2A):c.156A>G (p.Leu52=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 1436667	NM_145207.3(AFG2A):c.157G>A (p.Glu53Lys)	AFG2A (E53K)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1491312	NM_145207.3(AFG2A):c.163+5A>G	AFG2A	Single nucleotide variant (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1930664	NM_145207.3(AFG2A):c.163+7A>G	AFG2A	Single nucleotide variant (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 1672182	NM_145207.3(AFG2A):c.163+9T>G	AFG2A	Single nucleotide variant (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 2086895	NM_145207.3(AFG2A):c.163+16del	AFG2A	Deletion (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 1260816	NM_145207.3(AFG2A):c.163+148G>C	AFG2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227082	NM_145207.3(AFG2A):c.163+246G>T	AFG2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 584441	NM_145207.3(AFG2A):c.164-1053_446+1328dup	AFG2A	Duplication (splice acceptor variant +1 more)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely pathogenic
Select item 1205635	NM_145207.3(AFG2A):c.164-303CT[2]	AFG2A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1200775	NM_145207.3(AFG2A):c.164-288A>G	AFG2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187601	NM_145207.3(AFG2A):c.164-222C>T	AFG2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1544837	NM_145207.3(AFG2A):c.164-19A>G	AFG2A	Single nucleotide variant (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 1575379	NM_145207.3(AFG2A):c.164-14C>A	AFG2A	Single nucleotide variant (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 1031190	NM_145207.3(AFG2A):c.164-4A>G	AFG2A	Single nucleotide variant (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GConflicting classifications of pathogenicity
Select item 850872	NM_145207.3(AFG2A):c.164-3T>C	AFG2A	Single nucleotide variant (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1651891	NM_145207.3(AFG2A):c.165A>G (p.Val55=)	AFG2A	Single nucleotide variant (synonymous variant +1 more)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 2075021	NM_145207.3(AFG2A):c.169G>A (p.Asp57Asn)	AFG2A (D56N +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 859184	NM_145207.3(AFG2A):c.183A>C (p.Lys61Asn)	AFG2A (K60N +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1057828	NM_145207.3(AFG2A):c.192G>T (p.Gln64His)	AFG2A (Q63H +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1348066	NM_145207.3(AFG2A):c.199C>T (p.Leu67Phe)	AFG2A (L66F +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1092909	NM_145207.3(AFG2A):c.201T>A (p.Leu67=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 1409063	NM_145207.3(AFG2A):c.203T>C (p.Ile68Thr)	AFG2A (I67T +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 863543	NM_145207.3(AFG2A):c.206A>G (p.His69Arg)	AFG2A (H68R +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 836531	NM_145207.3(AFG2A):c.207T>A (p.His69Gln)	AFG2A (H68Q +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2200650	NM_145207.3(AFG2A):c.219C>T (p.Asn73=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 661589	NM_145207.3(AFG2A):c.223A>G (p.Met75Val)	AFG2A (M74V +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 952246	NM_145207.3(AFG2A):c.226A>C (p.Lys76Gln)	AFG2A (K76Q +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 653350	NM_145207.3(AFG2A):c.229T>G (p.Ser77Ala)	AFG2A (S77A +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 861412	NM_145207.3(AFG2A):c.238A>G (p.Ile80Val)	AFG2A (I79V +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 937091	NM_145207.3(AFG2A):c.239T>C (p.Ile80Thr)	AFG2A (I79T +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2114212	NM_145207.3(AFG2A):c.241T>C (p.Cys81Arg)	AFG2A (C81R +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1082654	NM_145207.3(AFG2A):c.243T>C (p.Cys81=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 2181008	NM_145207.3(AFG2A):c.244A>G (p.Ile82Val)	AFG2A (I82V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 844710	NM_145207.3(AFG2A):c.250C>T (p.Arg84Ter)	AFG2A (R83* +1 more)	Single nucleotide variant (nonsense)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GPathogenic
Select item 2131215	NM_145207.3(AFG2A):c.251G>C (p.Arg84Pro)	AFG2A (R83P +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely pathogenic
Select item 203534	NM_145207.3(AFG2A):c.251G>A (p.Arg84Gln)	AFG2A (R84Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +2 more	GPathogenic
Select item 966417	NM_145207.3(AFG2A):c.266C>G (p.Thr89Ser)	AFG2A (T88S +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1909208	NM_145207.3(AFG2A):c.268A>G (p.Ser90Gly)	AFG2A (S89G +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 203531	NM_145207.3(AFG2A):c.269G>T (p.Ser90Ile)	AFG2A (S90I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

<< First< Prev

Page of 8