ClinVar for Gene (Select 166378) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373300	NM_145207.3(AFG2A):c.1277+3A>C	AFG2A	Single nucleotide variant (intron 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 3361682	NM_145207.3(AFG2A):c.1314A>G (p.Ile438Met)	AFG2A (I437M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342152	NM_145207.3(AFG2A):c.391G>T (p.Val131Phe)	AFG2A (V130F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3274777	NM_145207.3(AFG2A):c.1366G>C (p.Asp456His)	AFG2A (D455H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3250664	NM_145207.3(AFG2A):c.2496A>C (p.Ser832=)	AFG2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3246755	NC_000004.11:g.(?_121616266)_(124323706_?)del	AFG2A, ANXA5 +17 more	Deletion	not provided	GUncertain significance
Select item 3246691	NC_000004.11:g.(?_123813983)_(124177355_?)dup	AFG2A, FGF2 +1 more	Duplication	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 3246690	NC_000004.11:g.(?_123818759)_(123978463_?)del	AFG2A, FGF2 +1 more	Deletion	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GPathogenic
Select item 3233672	NM_145207.3(AFG2A):c.1059_1063del (p.Met354fs)	AFG2A (M353fs +1 more)	Deletion (frameshift variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GPathogenic
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 3092928	NM_145207.3(AFG2A):c.628T>C (p.Ser210Pro)	AFG2A (S209P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065626	NM_145207.3(AFG2A):c.1541G>A (p.Arg514Gln)	AFG2A (R513Q +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely pathogenic
Select item 3064030	GRCh37/hg19 4q28.1(chr4:123977541-123978444)x1	AFG2A	Copy number loss	SPATA5-related neurodevelopmental disorder	Gnot provided
Select item 3062807	GRCh37/hg19 4q27-28.1(chr4:123302296-124083892)x3	ADAD1, AFG2A +5 more	Copy number gain	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3062754	GRCh37/hg19 4q28.1(chr4:123952079-124003383)x1	AFG2A	Copy number loss	not specified	GUncertain significance
Select item 3036097	NM_145207.3(AFG2A):c.372G>T (p.Arg124Ser)	AFG2A (R123S +1 more)	Single nucleotide variant (missense variant)	AFG2A-related disorder	GUncertain significance
Select item 3026813	NM_145207.3(AFG2A):c.1714+4772A>G	AFG2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3025893	NM_145207.3(AFG2A):c.2505+6A>G	AFG2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2690061	NM_145207.3(AFG2A):c.1996C>T (p.Leu666Phe)	AFG2A (L665F +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2685990	GRCh37/hg19 4q27-28.1(chr4:123654096-123996443)x3	AFG2A, BBS12 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 2655072	NM_145207.3(AFG2A):c.1714+4732C>T	AFG2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2655071	NM_145207.3(AFG2A):c.1714+2054C>G	AFG2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2630298	NM_145207.3(AFG2A):c.513del (p.Ile172fs)	AFG2A (I171fs +1 more)	Deletion (frameshift variant)	AFG2A-related disorder	GLikely pathogenic
Select item 2627872	NM_145207.3(AFG2A):c.2174T>C (p.Phe725Ser)	AFG2A (F724S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2607261	NM_145207.3(AFG2A):c.1311G>T (p.Gln437His)	AFG2A (Q436H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581910	NM_145207.3(AFG2A):c.1003A>G (p.Thr335Ala)	AFG2A (T334A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578281	NM_145207.3(AFG2A):c.2566C>G (p.Leu856Val)	AFG2A (L855V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2569962	NM_145207.3(AFG2A):c.2225C>A (p.Ala742Asp)	AFG2A (A741D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501993	NM_145207.3(AFG2A):c.334G>A (p.Gly112Ser)	AFG2A (G111S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443984	NM_145207.3(AFG2A):c.1761dup (p.Asp588Ter)	AFG2A (D587* +1 more)	Duplication (nonsense)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely pathogenic
Select item 2436277	NM_145207.3(AFG2A):c.2159C>T (p.Ala720Val)	AFG2A (A719V +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2436276	NM_145207.3(AFG2A):c.288+47T>C	AFG2A	Single nucleotide variant (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2428425	NM_145207.3(AFG2A):c.1479G>A (p.Val493=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 2427333	NC_000004.11:g.(?_124011714)_(124177355_?)del	AFG2A	Deletion	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely pathogenic
Select item 2427332	NC_000004.11:g.(?_123818759)_(124235219_?)del	AFG2A, FGF2 +1 more	Deletion	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GPathogenic
Select item 2427331	NC_000004.11:g.(?_123868368)_(124011880_?)dup	AFG2A	Duplication	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2427330	NC_000004.11:g.(?_123856849)_(123978463_?)dup	AFG2A	Duplication	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GPathogenic
Select item 2427329	NC_000004.11:g.(?_123977522)_(123978463_?)dup	AFG2A	Duplication	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely pathogenic
Select item 2427328	NC_000004.11:g.(?_121616266)_(124323706_?)dup	AFG2A, ANXA5 +17 more	Duplication	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2425904	NM_145207.3(AFG2A):c.527G>T (p.Gly176Val)	AFG2A (G175V +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2420990	NM_145207.3(AFG2A):c.289-14C>T	AFG2A	Single nucleotide variant (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 2332417	NM_145207.3(AFG2A):c.1033G>A (p.Asp345Asn)	AFG2A (D345N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305724	NM_145207.3(AFG2A):c.2215dup (p.Ser739fs)	AFG2A (S739fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2285420	NM_145207.3(AFG2A):c.653C>G (p.Ala218Gly)	AFG2A (A217G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274862	NM_145207.3(AFG2A):c.1957T>C (p.Phe653Leu)	AFG2A (F653L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244071	NM_145207.3(AFG2A):c.2080-5T>C	AFG2A	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2231854	NM_145207.3(AFG2A):c.1879T>G (p.Ser627Ala)	AFG2A (S627A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224428	NM_145207.3(AFG2A):c.2672A>G (p.His891Arg)	AFG2A (H891R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2201734	NM_145207.3(AFG2A):c.1210G>A (p.Ala404Thr)	AFG2A (A403T +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2201442	NM_145207.3(AFG2A):c.2214-17C>T	AFG2A	Single nucleotide variant (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
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 2198316	NM_145207.3(AFG2A):c.1842G>A (p.Met614Ile)	AFG2A (M613I +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2197806	NM_145207.3(AFG2A):c.1662T>C (p.Asn554=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 2197167	NM_145207.3(AFG2A):c.1334+4C>T	AFG2A	Single nucleotide variant (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2196452	NM_145207.3(AFG2A):c.966T>C (p.Thr322=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 2196210	NM_145207.3(AFG2A):c.1672G>T (p.Gly558Ter)	AFG2A (G557* +1 more)	Single nucleotide variant (nonsense)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GPathogenic
Select item 2193737	NM_145207.3(AFG2A):c.506-13T>C	AFG2A	Single nucleotide variant (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 2193328	NM_145207.3(AFG2A):c.2079+6_2079+7delinsAG	AFG2A (C695G)	Indel (missense variant +1 more)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2193138	NM_145207.3(AFG2A):c.784A>G (p.Asn262Asp)	AFG2A (N261D +1 more)	Single nucleotide variant (missense variant)	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 2188163	NM_145207.3(AFG2A):c.940A>T (p.Ile314Leu)	AFG2A (I314L +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2187885	NM_145207.3(AFG2A):c.2506-11T>A	AFG2A	Single nucleotide variant (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 2186975	NM_145207.3(AFG2A):c.1459-15A>C	AFG2A	Single nucleotide variant (intron 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 2179719	NM_145207.3(AFG2A):c.839G>A (p.Gly280Glu)	AFG2A (G279E +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2178167	NM_145207.3(AFG2A):c.729C>T (p.Thr243=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 2171526	NM_145207.3(AFG2A):c.1141A>C (p.Ser381Arg)	AFG2A (S380R +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2165075	NM_145207.3(AFG2A):c.2675C>T (p.Thr892Ile)	AFG2A (T891I +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2161433	NM_145207.3(AFG2A):c.1870G>A (p.Val624Ile)	AFG2A (V624I +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2160910	NM_145207.3(AFG2A):c.1746A>G (p.Lys582=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 2159488	NM_145207.3(AFG2A):c.1278-18G>A	AFG2A	Single nucleotide variant (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
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 2153404	NM_145207.3(AFG2A):c.1870-13T>C	AFG2A	Single nucleotide variant (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 2152117	NM_145207.3(AFG2A):c.2115T>G (p.Ser705=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 2151989	NM_145207.3(AFG2A):c.2474T>C (p.Ile825Thr)	AFG2A (I824T +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
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 2146460	NM_145207.3(AFG2A):c.1193C>T (p.Thr398Ile)	AFG2A (T397I +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2143292	NM_145207.3(AFG2A):c.2350C>A (p.Arg784=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 2143126	NM_145207.3(AFG2A):c.1533A>G (p.Arg511=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 2134176	NM_145207.3(AFG2A):c.2652T>C (p.Tyr884=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 2133213	NM_145207.3(AFG2A):c.1714+20G>T	AFG2A	Single nucleotide variant (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
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 2128541	NM_145207.3(AFG2A):c.1714+15C>G	AFG2A	Single nucleotide variant (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 2127975	NM_145207.3(AFG2A):c.1335-7T>C	AFG2A	Single nucleotide variant (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 2125633	NM_145207.3(AFG2A):c.1761del (p.Asp588fs)	AFG2A (D587fs +1 more)	Deletion (frameshift variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GPathogenic
Select item 2123003	NM_145207.3(AFG2A):c.1510G>T (p.Ala504Ser)	AFG2A (A504S +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2119589	NM_145207.3(AFG2A):c.2453A>G (p.Glu818Gly)	AFG2A (E817G +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2118884	NM_145207.3(AFG2A):c.1987G>A (p.Gly663Arg)	AFG2A (G663R +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2118085	NM_145207.3(AFG2A):c.749G>C (p.Ser250Thr)	AFG2A (S249T +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2117420	NM_145207.3(AFG2A):c.1831C>T (p.Pro611Ser)	AFG2A (P611S +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2116524	NM_145207.3(AFG2A):c.1009A>G (p.Ile337Val)	AFG2A (I337V +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2114269	NM_145207.3(AFG2A):c.432G>A (p.Met144Ile)	AFG2A (M143I +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 2114198	NM_145207.3(AFG2A):c.1983dup (p.Lys662Ter)	AFG2A (K661* +1 more)	Duplication (nonsense)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GPathogenic

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