9487[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 154979	GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1	ADORA2B, CCDC144A +137 more	Copy number loss	See cases	GPathogenic
Select item 148088	GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3	LOC284191, LRRC75A +216 more	Copy number gain	See cases	GPathogenic
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	ADORA2B, AKAP10 +333 more	Copy number gain	See cases	GPathogenic
Select item 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	See cases	GPathogenic
Select item 153990	GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3	ADORA2B, ALKBH5 +240 more	Copy number gain	See cases	GPathogenic
Select item 155418	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	LOC126862516, LOC126862517 +314 more	Copy number loss	See cases	GPathogenic
Select item 56996	GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1	LOC130060335, LOC130060336 +217 more	Copy number loss	See cases	GPathogenic
Select item 153341	GRCh38/hg38 17p12-11.2(chr17:15784832-16860143)x3	ADORA2B, CCDC144A +64 more	Copy number gain	See cases	GUncertain significance
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	FAM106C, FAM83G +311 more	Copy number loss	See cases	GPathogenic
Select item 155110	GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 150691	GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 57018	GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 60429	GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1	ADORA2B, ALKBH5 +199 more	Copy number loss	See cases	GPathogenic
Select item 60433	GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1	ALKBH5, ATPAF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 2093342	NC_000017.11:g.16216575_16217378del	LOC130060313, PIGL	Deletion	not provided	GUncertain significance
Select item 159711	NM_004278.4(PIGL):c.4G>A (p.Glu2Lys)	LOC130060313, PIGL (E2K)	Single nucleotide variant (missense variant)	CHIME syndrome +1 more	GUncertain significance
Select item 1399871	NM_004278.4(PIGL):c.6A>C (p.Glu2Asp)	LOC130060313, PIGL (E2D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461871	NM_004278.4(PIGL):c.17T>G (p.Leu6Arg)	PIGL (L6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896701	NM_004278.4(PIGL):c.19C>T (p.Leu7=)	PIGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180248	NM_004278.4(PIGL):c.21G>A (p.Leu7=)	PIGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1678186	NM_004278.4(PIGL):c.24T>G (p.Cys8Trp)	PIGL (C8W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088141	NM_004278.4(PIGL):c.25G>T (p.Val9Leu)	PIGL (V9L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3306495	NM_004278.4(PIGL):c.29C>T (p.Ala10Val)	PIGL (A10V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 159702	NM_004278.4(PIGL):c.30G>T (p.Ala10=)	PIGL	Single nucleotide variant (synonymous variant)	CHIME syndrome	GUncertain significance
Select item 2250551	NM_004278.4(PIGL):c.35C>A (p.Ala12Glu)	PIGL (A12E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 265641	NM_004278.4(PIGL):c.60G>A (p.Trp20Ter)	PIGL (W20*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2757357	NM_004278.4(PIGL):c.79C>A (p.Arg27=)	PIGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1809849	NM_004278.4(PIGL):c.89G>A (p.Ser30Asn)	PIGL (S30N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 891823	NM_004278.4(PIGL):c.130C>T (p.Leu44=)	PIGL	Single nucleotide variant (synonymous variant)	CHIME syndrome	GUncertain significance
Select item 2085708	NM_004278.4(PIGL):c.132G>C (p.Leu44=)	PIGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 760420	NM_004278.4(PIGL):c.144G>A (p.Ala48=)	PIGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3212802	NM_004278.4(PIGL):c.149C>T (p.Pro50Leu)	PIGL (P50L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526252	NM_004278.4(PIGL):c.154_161del (p.Asp52fs)	PIGL (D52fs)	Deletion (frameshift variant)	CHIME syndrome	GLikely pathogenic
Select item 1299303	NM_004278.4(PIGL):c.154G>A (p.Asp52Asn)	PIGL (D52N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2110656	NM_004278.4(PIGL):c.161C>T (p.Ala54Val)	PIGL (A54V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1425840	NM_004278.4(PIGL):c.163A>G (p.Met55Val)	PIGL (M55V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 159701	NM_004278.4(PIGL):c.169T>C (p.Phe57Leu)	PIGL (F57L)	Single nucleotide variant (missense variant)	CHIME syndrome	GUncertain significance
Select item 374175	NM_004278.4(PIGL):c.176C>A (p.Pro59His)	PIGL (P59H)	Single nucleotide variant (missense variant)	CHIME syndrome +8 more	GUncertain significance
Select item 1430951	NM_004278.4(PIGL):c.218T>C (p.Leu73Pro)	PIGL (L73P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912671	NM_004278.4(PIGL):c.235+1_235+10dup	PIGL	Duplication (splice donor variant)	not provided	GLikely benign
Select item 1294986	NM_004278.4(PIGL):c.236-29del	PIGL	Deletion (intron variant)	not provided	GBenign
Select item 321986	NM_004278.4(PIGL):c.258_259del (p.Glu86fs)	PIGL (E86fs)	Microsatellite (frameshift variant)	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +1 more	GUncertain significance
Select item 1687204	NM_004278.4(PIGL):c.262C>G (p.Arg88Gly)	PIGL (R88G)	Single nucleotide variant (missense variant)	CHIME syndrome	GUncertain significance
Select item 421848	NM_004278.4(PIGL):c.262C>T (p.Arg88Cys)	PIGL (R88C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 638452	NM_004278.4(PIGL):c.263G>A (p.Arg88His)	PIGL (R88H)	Single nucleotide variant (missense variant)	CHIME syndrome +1 more	GUncertain significance
Select item 2064660	NM_004278.4(PIGL):c.271del (p.Glu91fs)	PIGL (E91fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 30545	NM_004278.4(PIGL):c.274del (p.Leu92fs)	PIGL (L92fs)	Deletion (frameshift variant)	CHIME syndrome	GPathogenic
Select item 1031398	NM_004278.4(PIGL):c.296T>G (p.Leu99Trp)	PIGL (L99W)	Single nucleotide variant (missense variant)	CHIME syndrome	GUncertain significance
Select item 2544320	NM_004278.4(PIGL):c.308T>C (p.Leu103Pro)	PIGL (L103P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2998838	NM_004278.4(PIGL):c.324T>C (p.Ile108=)	PIGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714112	NM_004278.4(PIGL):c.333C>A (p.Asn111Lys)	PIGL (N111K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 697814	NM_004278.4(PIGL):c.333C>T (p.Asn111=)	PIGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2162745	NM_004278.4(PIGL):c.335+9T>C	PIGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2701782	NM_004278.4(PIGL):c.336-17G>A	PIGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2415313	NM_004278.4(PIGL):c.336-14C>T	PIGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2173575	NM_004278.4(PIGL):c.336-3T>C	PIGL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 632268	NM_004278.4(PIGL):c.336-2A>G	PIGL	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 159703	NM_004278.4(PIGL):c.337G>T (p.Asp113Tyr)	PIGL (D113Y)	Single nucleotide variant (missense variant)	CHIME syndrome +1 more	GConflicting classifications of pathogenicity
Select item 647559	NM_004278.4(PIGL):c.346G>A (p.Asp116Asn)	PIGL (D116N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 159704	NM_004278.4(PIGL):c.354A>G (p.Pro118=)	PIGL	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 712130	NM_004278.4(PIGL):c.384C>T (p.Ala128=)	PIGL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 860229	NM_004278.4(PIGL):c.385A>G (p.Arg129Gly)	PIGL (R129G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 891824	NM_004278.4(PIGL):c.398A>G (p.Gln133Arg)	PIGL (Q133R)	Single nucleotide variant (missense variant)	CHIME syndrome	GUncertain significance
Select item 321987	NM_004278.4(PIGL):c.420C>T (p.Ile140=)	PIGL	Single nucleotide variant (synonymous variant)	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +1 more	GUncertain significance
Select item 159705	NM_004278.4(PIGL):c.424C>A (p.Leu142Met)	PIGL (L142M)	Single nucleotide variant (missense variant)	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1657065	NM_004278.4(PIGL):c.426+8G>T	PIGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 159707	NM_004278.4(PIGL):c.426+8G>A	PIGL	Single nucleotide variant (intron variant)	CHIME syndrome	GUncertain significance
Select item 724871	NM_004278.4(PIGL):c.426+10C>T	PIGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 159706	NM_004278.4(PIGL):c.426+14T>C	PIGL	Single nucleotide variant (intron variant)	CHIME syndrome	GUncertain significance
Select item 1277657	NM_004278.4(PIGL):c.427-256A>C	PIGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 30547	NM_004278.4(PIGL):c.427-1G>A	PIGL	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1341513	NM_004278.4(PIGL):c.438C>A (p.Phe146Leu)	PIGL (F146L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 159708	NM_004278.4(PIGL):c.439G>A (p.Asp147Asn)	PIGL (D147N)	Single nucleotide variant (missense variant)	CHIME syndrome +3 more	GUncertain significance
Select item 321988	NM_004278.4(PIGL):c.446G>C (p.Gly149Ala)	PIGL (G149A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 971208	NM_004278.4(PIGL):c.473T>C (p.Ile158Thr)	PIGL (I158T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 159709	NM_004278.4(PIGL):c.480G>A (p.Leu160=)	PIGL	Single nucleotide variant (synonymous variant)	CHIME syndrome	GUncertain significance
Select item 159710	NM_004278.4(PIGL):c.493A>C (p.Arg165=)	PIGL	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 1324907	NM_004278.4(PIGL):c.494+1G>A	PIGL	Single nucleotide variant (splice donor variant)	CHIME syndrome	GLikely pathogenic
Select item 2072714	NM_004278.4(PIGL):c.494+13G>A	PIGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262840	NM_004278.4(PIGL):c.494+60G>C	PIGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261588	NM_004278.4(PIGL):c.495-203C>T	PIGL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707129	NM_004278.4(PIGL):c.495-65C>G	PIGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017459	NM_004278.4(PIGL):c.495-16C>T	PIGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 30544	NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)	PIGL (L167P)	Single nucleotide variant (missense variant)	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +3 more	GPathogenic
Select item 159712	NM_004278.4(PIGL):c.526+10G>A	PIGL	Single nucleotide variant (intron variant)	CHIME syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2194934	NM_004278.4(PIGL):c.527-17G>C	PIGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2015825	NM_004278.4(PIGL):c.527-9T>C	PIGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2040979	NM_004278.4(PIGL):c.527-5T>C	PIGL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 159713	NM_004278.4(PIGL):c.534T>C (p.Ser178=)	PIGL	Single nucleotide variant (synonymous variant)	CHIME syndrome	GUncertain significance
Select item 889380	NM_004278.4(PIGL):c.535G>T (p.Val179Leu)	PIGL (V179L)	Single nucleotide variant (missense variant)	CHIME syndrome	GUncertain significance
Select item 159714	NM_004278.4(PIGL):c.535G>A (p.Val179Met)	PIGL (V179M)	Single nucleotide variant (missense variant)	CHIME syndrome	GUncertain significance
Select item 159715	NM_004278.4(PIGL):c.540C>T (p.Leu180=)	PIGL	Single nucleotide variant (synonymous variant)	CHIME syndrome	GUncertain significance
Select item 321989	NM_004278.4(PIGL):c.542C>T (p.Thr181Met)	PIGL (T181M)	Single nucleotide variant (missense variant)	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +2 more	GUncertain significance
Select item 2059082	NM_004278.4(PIGL):c.543G>A (p.Thr181=)	PIGL (A171T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1931241	NM_004278.4(PIGL):c.567C>A (p.Arg189=)	PIGL (Q179K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3020430	NM_004278.4(PIGL):c.574A>C (p.Ile192Leu)	PIGL (I192L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895356	NM_004278.4(PIGL):c.593C>T (p.Pro198Leu)	PIGL (P198L)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GUncertain significance
Select item 159716	NM_004278.4(PIGL):c.595T>C (p.Leu199=)	PIGL	Single nucleotide variant (synonymous variant)	CHIME syndrome +1 more	GConflicting classifications of pathogenicity

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