ISM1[gene] - ClinVar

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Items: 77

	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 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	SPEF1, SPTLC3 +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC105372493, LOC105372524 +579 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 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 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 145966	GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)x1	ANKEF1, BMP2 +109 more	Copy number loss	See cases	GPathogenic
Select item 148981	GRCh38/hg38 20p12.2-12.1(chr20:9290612-14648536)x3	ANKEF1, BTBD3 +87 more	Copy number gain	See cases	GUncertain significance
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 146068	GRCh38/hg38 20p12.1(chr20:12130588-14687477)x3	ESF1, FLRT3 +26 more	Copy number gain	See cases	GUncertain significance
Select item 150057	GRCh38/hg38 20p12.1(chr20:12775958-13349293)x3	ISM1, ISM1-AS1 +14 more	Copy number gain	See cases	GLikely benign
Select item 154507	GRCh38/hg38 20p12.1(chr20:12776078-13349316)x3	ISM1, ISM1-AS1 +14 more	Copy number gain	See cases	GUncertain significance
Select item 32195	GRCh38/hg38 20p12.1(chr20:12776078-13349316)x1	ISM1, ISM1-AS1 +14 more	Copy number loss	See cases	GUncertain significance
Select item 3031214	NM_080826.2(ISM1):c.14C>T (p.Ala5Val)	ISM1, TASP1 (A5V)	Single nucleotide variant (missense variant)	ISM1-related disorder	GUncertain significance
Select item 3037929	NM_080826.2(ISM1):c.22CTG[4] (p.Leu12del)	ISM1, TASP1 (L12del)	Microsatellite (inframe deletion)	ISM1-related disorder	GLikely benign
Select item 2324144	NM_080826.2(ISM1):c.22C>G (p.Leu8Val)	ISM1, TASP1 (L8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595482	NM_080826.2(ISM1):c.79T>C (p.Ser27Pro)	ISM1, TASP1 (S27P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313493	NM_080826.2(ISM1):c.167C>T (p.Thr56Ile)	ISM1, TASP1 (T56I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408170	NM_080826.2(ISM1):c.215T>C (p.Leu72Pro)	ISM1, TASP1 (L72P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3040070	NM_080826.2(ISM1):c.252G>A (p.Pro84=)	ISM1, TASP1	Single nucleotide variant (synonymous variant)	ISM1-related disorder	GLikely benign
Select item 2633990	NM_080826.2(ISM1):c.259C>T (p.Arg87Ter)	ISM1, TASP1 (R87*)	Single nucleotide variant (nonsense)	ISM1-related disorder	GUncertain significance
Select item 2229789	NM_080826.2(ISM1):c.275A>G (p.His92Arg)	ISM1, TASP1 (H92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034804	NM_080826.2(ISM1):c.313C>T (p.Leu105Phe)	ISM1, TASP1 (L105F)	Single nucleotide variant (missense variant)	ISM1-related disorder	GLikely benign
Select item 3044524	NM_080826.2(ISM1):c.376C>G (p.Gln126Glu)	ISM1, TASP1 (Q126E)	Single nucleotide variant (missense variant)	ISM1-related disorder	GBenign
Select item 3039672	NM_080826.2(ISM1):c.397G>A (p.Asp133Asn)	ISM1, TASP1 (D133N)	Single nucleotide variant (missense variant)	ISM1-related disorder	GBenign
Select item 2380253	NM_080826.2(ISM1):c.400G>A (p.Gly134Ser)	ISM1, TASP1 (G134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607295	NM_080826.2(ISM1):c.425A>T (p.Asp142Val)	ISM1, TASP1 (D142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394825	NM_080826.2(ISM1):c.434C>T (p.Pro145Leu)	ISM1, TASP1 (P145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111029	NM_080826.2(ISM1):c.469G>A (p.Asp157Asn)	ISM1, TASP1 (D157N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047170	NM_080826.2(ISM1):c.507C>G (p.Ala169=)	ISM1, TASP1	Single nucleotide variant (synonymous variant)	ISM1-related disorder	GLikely benign
Select item 3111030	NM_080826.2(ISM1):c.556G>A (p.Asp186Asn)	ISM1, TASP1 (D186N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608666	NM_080826.2(ISM1):c.592C>T (p.His198Tyr)	ISM1, TASP1 (H198Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530776	NM_080826.2(ISM1):c.611G>A (p.Arg204Gln)	ISM1, TASP1 (R204Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111031	NM_080826.2(ISM1):c.641A>C (p.Tyr214Ser)	ISM1, TASP1 (Y214S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596700	NM_080826.2(ISM1):c.653A>G (p.Asp218Gly)	ISM1, TASP1 (D218G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036491	NM_080826.2(ISM1):c.657C>A (p.Gly219=)	ISM1, TASP1	Single nucleotide variant (synonymous variant)	ISM1-related disorder	GLikely benign
Select item 3053477	NM_080826.2(ISM1):c.690C>T (p.Ser230=)	ISM1, TASP1	Single nucleotide variant (synonymous variant)	ISM1-related disorder	GLikely benign
Select item 2336174	NM_080826.2(ISM1):c.719G>A (p.Arg240Gln)	ISM1, TASP1 (R240Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208659	NM_080826.2(ISM1):c.836C>T (p.Ala279Val)	ISM1, TASP1 (A279V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249747	NM_080826.2(ISM1):c.844G>A (p.Glu282Lys)	ISM1, TASP1 (E282K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341497	NM_080826.2(ISM1):c.866T>C (p.Leu289Pro)	ISM1, TASP1 (L289P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254169	NM_080826.2(ISM1):c.874G>C (p.Val292Leu)	ISM1, TASP1 (V292L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047599	NM_080826.2(ISM1):c.878-10C>A	ISM1, TASP1	Single nucleotide variant (intron variant)	ISM1-related disorder	GLikely benign
Select item 2549818	NM_080826.2(ISM1):c.934A>G (p.Met312Val)	ISM1, TASP1 (M312V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264901	NM_080826.2(ISM1):c.1109G>T (p.Arg370Leu)	ISM1, TASP1 (R370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494095	NM_080826.2(ISM1):c.1225G>C (p.Glu409Gln)	ISM1, TASP1 (E409Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456750	NM_080826.2(ISM1):c.1258G>A (p.Val420Ile)	ISM1, TASP1 (V420I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2390678	NM_080826.2(ISM1):c.1303G>A (p.Glu435Lys)	ISM1, TASP1 (E435K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601076	NM_080826.2(ISM1):c.1327C>G (p.Gln443Glu)	ISM1, TASP1 (Q443E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039192	NM_080826.2(ISM1):c.1331A>G (p.Lys444Arg)	ISM1, TASP1 (K444R)	Single nucleotide variant (missense variant)	ISM1-related disorder	GBenign
Select item 2260999	NM_080826.2(ISM1):c.1343G>A (p.Ser448Asn)	ISM1, TASP1 (S448N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044432	NM_080826.2(ISM1):c.*4G>C	ISM1, TASP1	Single nucleotide variant (3 prime UTR variant)	ISM1-related disorder	GLikely benign
Select item 3048393	NM_080826.2(ISM1):c.*5A>G	ISM1, TASP1	Single nucleotide variant (3 prime UTR variant)	ISM1-related disorder	GBenign
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	CSTL1, DDRGK1 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	ADAM33, ADISSP +114 more	Copy number gain	not provided	GPathogenic
Select item 2685642	GRCh37/hg19 20p12.1(chr20:13276909-13626970)x1	ISM1, TASP1	Copy number loss	not provided	GUncertain significance
Select item 2685641	GRCh37/hg19 20p12.1(chr20:13199353-13257470)x1	ISM1	Copy number loss	not provided	GUncertain significance
Select item 1340705	GRCh37/hg19 20p12.1(chr20:12739155-13341547)x3	ISM1, SPTLC3	Copy number gain	not provided	GLikely benign
Select item 1340349	GRCh37/hg19 20p12.1(chr20:12739155-13341547)x1	ISM1, SPTLC3	Copy number loss	not provided	GUncertain significance
Select item 1328445	GRCh37/hg19 20p12.1(chr20:12740904-13338489)x1	ISM1, SPTLC3	Copy number loss	not provided	GUncertain significance
Select item 1328443	GRCh37/hg19 20p12.2-11.23(chr20:11702911-19179706)x3	BANF2, BFSP1 +28 more	Copy number gain	not provided	GUncertain significance
Select item 979565	GRCh37/hg19 20p12.1(chr20:13273177-13360196)x1	ISM1	Copy number loss	not provided	GUncertain significance
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	KIF16B, SLC24A3 +49 more	Copy number loss	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 686482	GRCh37/hg19 20p12.1(chr20:12742545-13338336)x3	ISM1, SPTLC3	Copy number gain	not provided	GUncertain significance
Select item 625735	GRCh37/hg19 20p12.2-11.23(chr20:11716825-19331055)	BANF2, BFSP1 +29 more	Copy number gain	not provided	GPathogenic
Select item 564645	GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1	FERMT1, SPTLC3 +62 more	Copy number loss	not provided	GPathogenic
Select item 564644	GRCh37/hg19 20p12.3-12.1(chr20:7604120-14739025)x3	BTBD3, TMX4 +18 more	Copy number gain	not provided	GPathogenic
Select item 564630	GRCh37/hg19 20p12.1(chr20:12732368-13341547)x1	SPTLC3, ISM1	Copy number loss	not provided	GUncertain significance
Select item 443884	GRCh37/hg19 20p12.1(chr20:12722246-13341547)x3	ISM1, SPTLC3	Copy number gain	See cases	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	CST1, NAPB +178 more	Copy number gain	not provided	GPathogenic
Select item 394915	GRCh37/hg19 20p12.1(chr20:12860899-13329904)x3	ISM1, SPTLC3	Copy number gain	See cases	GLikely benign
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic

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Items: 77