GINS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 59196	GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)x3	ABHD12, ACSS1 +174 more	Copy number gain	See cases	GPathogenic
Select item 155473	GRCh38/hg38 20p11.21(chr20:25031679-25625520)x3	LOC130065583, LOC130065584 +45 more	Copy number gain	See cases	GUncertain significance
Select item 58970	GRCh38/hg38 20p11.21(chr20:25089431-25492048)x3	ABHD12, ENTPD6 +31 more	Copy number gain	See cases	GUncertain significance
Select item 58971	GRCh38/hg38 20p11.21(chr20:25099947-25468308)x3	ABHD12, ENTPD6 +30 more	Copy number gain	See cases	GUncertain significance
Select item 2499655	GRCh38/hg38 20p11.21(chr20:25121080-25485829)	ABHD12, ENTPD6 +31 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 487512	NM_021067.5(GINS1):c.-60A>G	GINS1, LOC130065587	Single nucleotide variant (5 prime UTR variant +1 more)	Combined immunodeficiency due to GINS1 deficiency	GPathogenic
Select item 487510	NM_021067.5(GINS1):c.-48C>G	GINS1, LOC130065587	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2964799	NM_021067.5(GINS1):c.1A>G (p.Met1Val)	GINS1, LOC130065587 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2695289	NM_021067.5(GINS1):c.6C>G (p.Phe2Leu)	GINS1, LOC130065587 (F2L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2402668	NM_021067.5(GINS1):c.16G>T (p.Ala6Ser)	GINS1, LOC130065587 (A6S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1931958	NM_021067.5(GINS1):c.19A>G (p.Met7Val)	GINS1, LOC130065587 (M7V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3023740	NM_021067.5(GINS1):c.25C>T (p.Leu9=)	GINS1, LOC130065587	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1012480	NM_021067.5(GINS1):c.29T>G (p.Ile10Ser)	GINS1, LOC130065587 (I10S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2862132	NM_021067.5(GINS1):c.43C>A (p.Arg15Ser)	GINS1, LOC130065587 (R15S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 976464	NM_021067.5(GINS1):c.52delinsCA (p.Glu18fs)	GINS1, LOC130065587 (E18fs)	Indel (frameshift variant +1 more)	Combined immunodeficiency due to GINS1 deficiency	GUncertain significance
Select item 2101786	NM_021067.5(GINS1):c.56G>A (p.Gly19Glu)	GINS1, LOC130065587 (G19E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1967340	NM_021067.5(GINS1):c.63G>A (p.Leu21=)	GINS1, LOC130065587	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2955428	NM_021067.5(GINS1):c.67G>A (p.Ala23Thr)	GINS1, LOC130065587 (A23T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2524856	NM_021067.5(GINS1):c.73A>G (p.Asn25Asp)	GINS1, LOC130065587 (N25D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1992836	NM_021067.5(GINS1):c.75+6G>A	GINS1, LOC130065587	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1661952	NM_021067.5(GINS1):c.76-18T>C	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1542580	NM_021067.5(GINS1):c.76-17C>T	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1606089	NM_021067.5(GINS1):c.76-16G>A	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1143559	NM_021067.5(GINS1):c.76-15G>A	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788398	NM_021067.5(GINS1):c.76-3T>C	GINS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1671349	NM_021067.5(GINS1):c.81T>C (p.Asp27=)	GINS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2297590	NM_021067.5(GINS1):c.94G>C (p.Val32Leu)	GINS1 (V32L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2772505	NM_021067.5(GINS1):c.97C>G (p.Leu33Val)	GINS1 (L33V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1167189	NM_021067.5(GINS1):c.104A>G (p.Glu35Gly)	GINS1 (E35G)	Single nucleotide variant (missense variant +1 more)	GINS1-related disorder +1 more	GBenign
Select item 1365638	NM_021067.5(GINS1):c.106A>G (p.Met36Val)	GINS1 (M36V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1944719	NM_021067.5(GINS1):c.126A>G (p.Gln42=)	GINS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2802582	NM_021067.5(GINS1):c.134C>G (p.Ser45Cys)	GINS1 (S45C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2797000	NM_021067.5(GINS1):c.140+1G>A	GINS1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2047357	NM_021067.5(GINS1):c.140+12A>G	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970728	NM_021067.5(GINS1):c.140+15A>G	GINS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2969135	NM_021067.5(GINS1):c.141-10C>T	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1501538	NM_021067.5(GINS1):c.141-9T>G	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977458	NM_021067.5(GINS1):c.141-8C>T	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960130	NM_021067.5(GINS1):c.141-3del	GINS1	Deletion (intron variant)	not provided	GUncertain significance
Select item 1474313	NM_021067.5(GINS1):c.141G>A (p.Val47=)	GINS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1374794	NM_021067.5(GINS1):c.143A>G (p.Asn48Ser)	GINS1 (N48S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1923204	NM_021067.5(GINS1):c.149C>T (p.Ala50Val)	GINS1 (A50V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1419758	NM_021067.5(GINS1):c.158G>A (p.Gly53Asp)	GINS1 (G53D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1018784	NM_021067.5(GINS1):c.160G>A (p.Gly54Arg)	GINS1 (G54R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2083380	NM_021067.5(GINS1):c.164G>T (p.Arg55Leu)	GINS1 (R55L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1510852	NM_021067.5(GINS1):c.164G>A (p.Arg55Gln)	GINS1 (R55Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2128049	NM_021067.5(GINS1):c.172T>C (p.Leu58=)	GINS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1690902	NM_021067.5(GINS1):c.175A>T (p.Ile59Leu)	GINS1 (I59L)	Single nucleotide variant (missense variant +1 more)	See cases +1 more	GUncertain significance
Select item 3006961	NM_021067.5(GINS1):c.179C>G (p.Pro60Arg)	GINS1 (P60R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1919672	NM_021067.5(GINS1):c.181A>C (p.Thr61Pro)	GINS1 (T61P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2002424	NM_021067.5(GINS1):c.185T>C (p.Ile62Thr)	GINS1 (I62T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1025905	NM_021067.5(GINS1):c.193C>T (p.Arg65Ter)	GINS1 (R65*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1361395	NM_021067.5(GINS1):c.194G>C (p.Arg65Pro)	GINS1 (R65P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2816633	NM_021067.5(GINS1):c.196C>T (p.His66Tyr)	GINS1 (H66Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2008027	NM_021067.5(GINS1):c.197A>C (p.His66Pro)	GINS1 (H66P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1718135	NM_021067.5(GINS1):c.199T>G (p.Cys67Gly)	GINS1 (C67G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2108745	NM_021067.5(GINS1):c.205C>T (p.Leu69=)	GINS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2414261	NM_021067.5(GINS1):c.218G>A (p.Arg73Gln)	GINS1 (R73Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1379946	NM_021067.5(GINS1):c.220C>T (p.Arg74Cys)	GINS1 (R74C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1494856	NM_021067.5(GINS1):c.238C>T (p.Leu80=)	GINS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2134658	NM_021067.5(GINS1):c.239+1G>T	GINS1	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2891398	NM_021067.5(GINS1):c.239+7T>C	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1117976	NM_021067.5(GINS1):c.240-13C>T	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2114433	NM_021067.5(GINS1):c.244G>T (p.Asp82Tyr)	GINS1 (D82Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2745853	NM_021067.5(GINS1):c.245A>G (p.Asp82Gly)	GINS1 (D82G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 487511	NM_021067.5(GINS1):c.247C>T (p.Arg83Cys)	GINS1 (R83C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1594630	NM_021067.5(GINS1):c.252G>A (p.Leu84=)	GINS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2190824	NM_021067.5(GINS1):c.255T>C (p.Leu85=)	GINS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 976466	NM_021067.5(GINS1):c.256C>T (p.Arg86Trp)	GINS1 (R86W)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to GINS1 deficiency	GUncertain significance
Select item 2916994	NM_021067.5(GINS1):c.257G>A (p.Arg86Gln)	GINS1 (R86Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2113462	NM_021067.5(GINS1):c.264A>G (p.Arg88=)	GINS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2560728	NM_021067.5(GINS1):c.265G>C (p.Ala89Pro)	GINS1 (A89P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1978203	NM_021067.5(GINS1):c.268C>T (p.Leu90Phe)	GINS1 (L90F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1012481	NM_021067.5(GINS1):c.273A>T (p.Arg91Ser)	GINS1 (R91S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2706919	NM_021067.5(GINS1):c.277G>A (p.Glu93Lys)	GINS1 (E93K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1503162	NM_021067.5(GINS1):c.281A>G (p.Tyr94Cys)	GINS1 (Y94C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1909804	NM_021067.5(GINS1):c.284G>A (p.Gly95Asp)	GINS1 (G95D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1550776	NM_021067.5(GINS1):c.288C>T (p.Ser96=)	GINS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1169882	NM_021067.5(GINS1):c.289G>A (p.Val97Ile)	GINS1 (V97I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 2979948	NM_021067.5(GINS1):c.291C>T (p.Val97=)	GINS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2801008	NM_021067.5(GINS1):c.295C>T (p.Pro99Ser)	GINS1 (P99S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2174933	NM_021067.5(GINS1):c.298A>G (p.Asn100Asp)	GINS1 (N100D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1718153	NM_021067.5(GINS1):c.299A>G (p.Asn100Ser)	GINS1 (N100S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2825499	NM_021067.5(GINS1):c.300T>C (p.Asn100=)	GINS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2961389	NM_021067.5(GINS1):c.307C>T (p.Arg103Ter)	GINS1 (R103*)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 2859271	NM_021067.5(GINS1):c.308G>A (p.Arg103Gln)	GINS1 (R103Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1917387	NM_021067.5(GINS1):c.316A>G (p.Met106Val)	GINS1 (M106V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1438123	NM_021067.5(GINS1):c.328G>A (p.Glu110Lys)	GINS1 (E110K)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1937063	NM_021067.5(GINS1):c.330+11A>G	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008765	NM_021067.5(GINS1):c.330+13T>C	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1661943	NM_021067.5(GINS1):c.330+17dup	GINS1	Duplication (intron variant)	not provided	GLikely benign
Select item 2687965	NM_021067.5(GINS1):c.330+45G>C	GINS1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2418354	NM_021067.5(GINS1):c.331-10_331-9del	GINS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2006661	NM_021067.5(GINS1):c.331-9T>C	GINS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1415475	NM_021067.5(GINS1):c.331-3C>T	GINS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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