102[geneid] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	LOC130057143, LOC130057144 +287 more	Copy number loss	See cases	GPathogenic
Select item 57220	GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1	ADAM10, ALDH1A2 +140 more	Copy number loss	See cases	GPathogenic
Select item 57882	GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1	ADAM10, ALDH1A2 +163 more	Copy number loss	See cases	GPathogenic
Select item 3143818	NM_001110.4(ADAM10):c.2242C>T (p.Arg748Cys)	ADAM10 (R717C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143814	NM_001110.4(ADAM10):c.2206C>T (p.Arg736Trp)	ADAM10 (R705W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519100	NM_001110.4(ADAM10):c.2200C>A (p.Arg734Ser)	ADAM10 (R734S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384608	NM_001110.4(ADAM10):c.2200C>T (p.Arg734Cys)	ADAM10 (R703C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143807	NM_001110.4(ADAM10):c.2186T>C (p.Ile729Thr)	ADAM10 (I698T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1245260	NM_001110.4(ADAM10):c.2152+267dup	ADAM10	Duplication (intron variant)	not provided	GBenign
Select item 3045168	NM_001110.4(ADAM10):c.2043A>G (p.Val681=)	ADAM10	Single nucleotide variant (synonymous variant)	ADAM10-related disorder	GBenign
Select item 2690836	NM_001110.4(ADAM10):c.2026G>A (p.Ala676Thr)	ADAM10 (A645T +1 more)	Single nucleotide variant (missense variant)	Reticulate acropigmentation of Kitamura	GUncertain significance
Select item 1228846	NM_001110.4(ADAM10):c.2026-27del	ADAM10	Deletion (intron variant)	not provided	GBenign
Select item 1240622	NM_001110.4(ADAM10):c.2026-175A>T	ADAM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2277064	NM_001110.4(ADAM10):c.1990C>T (p.Pro664Ser)	ADAM10 (P633S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527202	NM_001110.4(ADAM10):c.1882C>T (p.Pro628Ser)	ADAM10 (P597S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143794	NM_001110.4(ADAM10):c.1805T>C (p.Met602Thr)	ADAM10 (M571T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1254981	NM_001110.4(ADAM10):c.1805-53T>G	ADAM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235238	NM_001110.4(ADAM10):c.1804+115T>C	ADAM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3143791	NM_001110.4(ADAM10):c.1747G>C (p.Ala583Pro)	ADAM10 (A552P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352010	NM_001110.4(ADAM10):c.1735G>A (p.Glu579Lys)	ADAM10 (E548K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143782	NM_001110.4(ADAM10):c.1713C>G (p.Ile571Met)	ADAM10 (I571M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463161	NM_001110.4(ADAM10):c.1711A>G (p.Ile571Val)	ADAM10 (I571V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247649	NM_001110.4(ADAM10):c.1691A>G (p.Asn564Ser)	ADAM10 (N533S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301014	NM_001110.4(ADAM10):c.1649C>A (p.Pro550Gln)	ADAM10 (P519Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 88843	NM_001110.4(ADAM10):c.1571G>A (p.Cys524Tyr)	ADAM10 (C524Y +1 more)	Single nucleotide variant (missense variant)	Reticulate acropigmentation of Kitamura	GPathogenic
Select item 1240789	NM_001110.4(ADAM10):c.1512-47G>A	ADAM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288249	NM_001110.4(ADAM10):c.1511+181dup	ADAM10	Duplication (intron variant)	not provided	GBenign
Select item 1290129	NM_001110.4(ADAM10):c.1511+208del	ADAM10	Deletion (intron variant)	not provided	GBenign
Select item 1238913	NM_001110.4(ADAM10):c.1511+201_1511+208del	ADAM10	Deletion (intron variant)	not provided	GBenign
Select item 1275673	NM_001110.4(ADAM10):c.1511+27A>T	ADAM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768713	NM_001110.4(ADAM10):c.1511+7T>C	ADAM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 88840	NM_001110.4(ADAM10):c.1511G>A (p.Ser504Asn)	ADAM10 (S504N +1 more)	Single nucleotide variant (missense variant)	Reticulate acropigmentation of Kitamura	GPathogenic
Select item 2243239	NM_001110.4(ADAM10):c.1469C>T (p.Pro490Leu)	ADAM10 (P459L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334356	NM_001110.4(ADAM10):c.1409A>G (p.Glu470Gly)	ADAM10 (E439G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 88842	NM_001110.4(ADAM10):c.1264del (p.Thr422fs)	ADAM10 (T391fs +1 more)	Deletion (frameshift variant)	Reticulate acropigmentation of Kitamura	GPathogenic
Select item 1283383	NM_001110.4(ADAM10):c.1177-193C>T	ADAM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228078	NM_001110.4(ADAM10):c.1177-281A>G	ADAM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266676	NM_001110.4(ADAM10):c.1176+307T>C	ADAM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2478156	NM_001110.4(ADAM10):c.1087A>G (p.Ile363Val)	ADAM10 (I363V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050937	NM_001110.4(ADAM10):c.1013-8T>C	ADAM10	Single nucleotide variant (intron variant)	ADAM10-related disorder	GBenign
Select item 1275933	NM_001110.4(ADAM10):c.1013-198C>G	ADAM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178087	NM_001110.4(ADAM10):c.1012+44A>G	ADAM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768714	NM_001110.4(ADAM10):c.961C>A (p.Arg321=)	ADAM10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2690837	NM_001110.4(ADAM10):c.846T>A (p.Asp282Glu)	ADAM10 (D251E +1 more)	Single nucleotide variant (missense variant)	Reticulate acropigmentation of Kitamura	GUncertain significance
Select item 1236732	NM_001110.4(ADAM10):c.828+99A>G	ADAM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245870	NM_001110.4(ADAM10):c.736-267dup	ADAM10	Duplication (intron variant)	not provided	GBenign
Select item 1239816	NM_001110.4(ADAM10):c.735+198del	ADAM10	Deletion (intron variant)	not provided	GBenign
Select item 1050437	NM_001110.4(ADAM10):c.632A>G (p.Lys211Arg)	ADAM10 (K211R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2483845	NM_001110.4(ADAM10):c.590C>A (p.Pro197His)	ADAM10 (P197H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1273677	NM_001110.4(ADAM10):c.586-33A>G	ADAM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2518694	NM_001110.4(ADAM10):c.561G>T (p.Met187Ile)	ADAM10 (M187I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 92164	NM_001110.4(ADAM10):c.541A>G (p.Arg181Gly)	ADAM10 (R181G)	Single nucleotide variant (missense variant)	Alzheimer disease 18	Grisk factor
Select item 92163	NM_001110.4(ADAM10):c.510G>C (p.Gln170His)	ADAM10 (Q170H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039863	NM_001110.4(ADAM10):c.502G>A (p.Gly168Ser)	ADAM10 (G168S)	Single nucleotide variant (missense variant)	ADAM10-related disorder	GLikely benign
Select item 1241324	NM_001110.4(ADAM10):c.485-79A>G	ADAM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3143822	NM_001110.4(ADAM10):c.455A>C (p.His152Pro)	ADAM10 (H152P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710294	NM_001110.4(ADAM10):c.445C>T (p.Leu149=)	ADAM10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 88841	NM_001110.4(ADAM10):c.429T>A (p.Tyr143Ter)	ADAM10 (Y143*)	Single nucleotide variant (nonsense)	Reticulate acropigmentation of Kitamura	GPathogenic
Select item 2627935	NM_001110.4(ADAM10):c.424_425insCAGAG (p.Arg142fs)	ADAM10 (R142fs)	Insertion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2627934	NM_001110.4(ADAM10):c.415C>T (p.Pro139Ser)	ADAM10 (P139S)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 88839	NM_001110.4(ADAM10):c.[415C>T;424_425insCAGAG]	ADAM10 (P139S +1 more)	Single nucleotide variant (missense variant +1 more)	Reticulate acropigmentation of Kitamura	GPathogenic
Select item 870548	NM_001110.4(ADAM10):c.359T>C (p.Ile120Thr)	ADAM10 (I120T)	Single nucleotide variant (missense variant)	Corticobasal syndrome	GUncertain significance
Select item 720402	NM_001110.4(ADAM10):c.326-10T>C	ADAM10	Single nucleotide variant (intron variant)	Alzheimer disease 18 +2 more	GBenign/Likely benign
Select item 3058772	NM_001110.4(ADAM10):c.282A>T (p.Val94=)	ADAM10	Single nucleotide variant (synonymous variant)	ADAM10-related disorder	GLikely benign
Select item 1050767	NM_001110.4(ADAM10):c.239C>T (p.Ser80Phe)	ADAM10 (S80F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2495645	NM_001110.4(ADAM10):c.208C>T (p.His70Tyr)	ADAM10 (H70Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526510	NM_001110.4(ADAM10):c.194A>C (p.His65Pro)	ADAM10 (H65P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038055	NM_001110.4(ADAM10):c.156A>G (p.Ala52=)	ADAM10	Single nucleotide variant (synonymous variant)	ADAM10-related disorder	GLikely benign
Select item 2232846	NM_001110.4(ADAM10):c.56G>T (p.Gly19Val)	ADAM10 (G19V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1282983	NM_001110.4(ADAM10):c.56-185G>C	ADAM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3047265	NM_001110.4(ADAM10):c.55+10G>T	ADAM10	Single nucleotide variant (intron variant)	ADAM10-related disorder	GLikely benign
Select item 754764	NM_001110.4(ADAM10):c.30C>T (p.Leu10=)	ADAM10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2229007	NM_001110.4(ADAM10):c.20T>C (p.Leu7Ser)	ADAM10 (L7S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038445	NM_001110.4(ADAM10):c.-15CAGCGG[3]	ADAM10	Microsatellite (5 prime UTR variant)	ADAM10-related disorder	GBenign
Select item 1260546	NC_000015.10:g.58749813T>C	ADAM10, LOC130057158	Single nucleotide variant	not provided	GBenign
Select item 1269092	NC_000015.10:g.58749944G>T	ADAM10, LOC130057158	Single nucleotide variant	not provided	GBenign
Select item 1233353	NC_000015.10:g.58750164C>A	ADAM10, LOC130057159	Single nucleotide variant	not provided	GBenign
Select item 1276470	NC_000015.10:g.58750253G>A	ADAM10, LOC130057159	Single nucleotide variant	not provided	GBenign
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	WDR72, ZNF280D +35 more	Copy number loss	not provided	GPathogenic
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +82 more	Copy number gain	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980524	GRCh37/hg19 15q21.3-22.1(chr15:58997072-59218740)x3	SLTM, ADAM10 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980522	GRCh37/hg19 15q21.3(chr15:58461372-58897874)x3	ADAM10, AQP9 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980520	GRCh37/hg19 15q21.3(chr15:57414627-58960510)x3	ADAM10, ALDH1A2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564210	GRCh37/hg19 15q21.3-22.2(chr15:58441151-60270526)x3	ADAM10, AQP9 +11 more	Copy number gain	not provided	GUncertain significance
Select item 564209	GRCh37/hg19 15q21.3(chr15:57608623-59029582)x3	ADAM10, ALDH1A2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442636	GRCh37/hg19 15q21.3-22.2(chr15:58088503-62221756)x1	ADAM10, ALDH1A2 +17 more	Copy number loss	See cases	GPathogenic
Select item 442376	GRCh37/hg19 15q21.3(chr15:57518653-58974175)x3	ADAM10, ALDH1A2 +6 more	Copy number gain	See cases	GLikely pathogenic
Select item 395193	GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1	ADAM10, ALDH1A2 +37 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic

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Items: 95