ClinVar for Gene (Select 123722) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685526	GRCh37/hg19 15q25.2(chr15:83220107-84811774)x1	BTBD1, SCARNA15 +11 more	Copy number loss	not provided	GPathogenic
Select item 2684766	GRCh37/hg19 15q25.2-25.3(chr15:83169558-85779567)x3	ADAMTSL3, ALPK3 +19 more	Copy number gain	not provided	GUncertain significance
Select item 2618556	NM_001007122.4(FSD2):c.700G>A (p.Ala234Thr)	FSD2 (A234T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596862	NM_001007122.4(FSD2):c.943G>A (p.Glu315Lys)	FSD2 (E315K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594756	NM_001007122.4(FSD2):c.2011T>C (p.Phe671Leu)	FSD2 (F671L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594270	NM_001007122.4(FSD2):c.1763G>A (p.Arg588Gln)	FSD2 (R543Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591462	NM_001007122.4(FSD2):c.1292C>T (p.Thr431Ile)	FSD2 (T431I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2552622	NM_001007122.4(FSD2):c.155C>T (p.Ala52Val)	FSD2 (A52V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541674	NM_001007122.4(FSD2):c.180T>A (p.Asp60Glu)	FSD2 (D60E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540564	NM_001007122.4(FSD2):c.1171C>G (p.Arg391Gly)	FSD2 (R391G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528050	NM_001007122.4(FSD2):c.1909G>C (p.Gly637Arg)	FSD2 (G592R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516030	NM_001007122.4(FSD2):c.1432G>A (p.Glu478Lys)	FSD2 (E433K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515768	NM_001007122.4(FSD2):c.1229G>A (p.Arg410Gln)	FSD2 (R410Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508516	NM_001007122.4(FSD2):c.2224A>G (p.Met742Val)	FSD2 (M697V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	ISLR2, MESD +209 more	Copy number gain	not provided	GPathogenic
Select item 2494729	NM_001007122.4(FSD2):c.598C>G (p.His200Asp)	FSD2 (H200D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484107	NM_001007122.4(FSD2):c.1378A>G (p.Ser460Gly)	FSD2 (S460G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480629	NM_001007122.4(FSD2):c.2068G>A (p.Gly690Ser)	FSD2 (G645S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470026	NM_001007122.4(FSD2):c.403G>A (p.Gly135Arg)	FSD2 (G135R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461914	NM_001007122.4(FSD2):c.260G>A (p.Gly87Glu)	FSD2 (G87E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460644	NM_001007122.4(FSD2):c.1499C>T (p.Ser500Leu)	FSD2 (S500L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456087	NM_001007122.4(FSD2):c.1261C>G (p.Gln421Glu)	FSD2 (Q421E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454777	NM_001007122.4(FSD2):c.1754C>T (p.Thr585Met)	FSD2 (T540M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425191	NC_000015.9:g.(?_83328312)_(83621287_?)del	AP3B2, FSD2 +3 more	Deletion	not provided	GPathogenic
Select item 2405780	NM_001007122.4(FSD2):c.1685T>C (p.Ile562Thr)	FSD2 (I562T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2385949	NM_001007122.4(FSD2):c.475G>A (p.Glu159Lys)	FSD2 (E159K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385451	NM_001007122.4(FSD2):c.2095A>G (p.Lys699Glu)	FSD2 (K654E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383474	NM_001007122.4(FSD2):c.1195G>A (p.Asp399Asn)	FSD2 (D399N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349048	NM_001007122.4(FSD2):c.994G>A (p.Gly332Arg)	FSD2 (G332R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340513	NM_001007122.4(FSD2):c.1698T>G (p.Phe566Leu)	FSD2 (F521L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333769	NM_001007122.4(FSD2):c.1145C>T (p.Pro382Leu)	FSD2 (P382L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308086	NM_001007122.4(FSD2):c.1556C>G (p.Ser519Cys)	FSD2 (S519C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290982	NM_001007122.4(FSD2):c.196G>C (p.Asp66His)	FSD2 (D66H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234043	NM_001007122.4(FSD2):c.1414C>G (p.Pro472Ala)	FSD2 (P427A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223925	NM_001007122.4(FSD2):c.1517C>T (p.Thr506Ile)	FSD2 (T461I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223494	NM_001007122.4(FSD2):c.1546G>A (p.Val516Ile)	FSD2 (V471I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220493	NM_001007122.4(FSD2):c.1021G>A (p.Val341Met)	FSD2 (V341M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1809204	GRCh37/hg19 15q25.2(chr15:83246227-83468234)x3	AP3B2, CPEB1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1374929	NC_000015.9:g.(?_83328312)_(83621287_?)dup	AP3B2, FSD2 +3 more	Duplication	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980540	GRCh37/hg19 15q25.2-25.3(chr15:83201955-85786847)x1	ADAMTSL3, ALPK3 +19 more	Copy number loss	not provided	GPathogenic
Select item 688687	GRCh37/hg19 15q25.1-25.2(chr15:80728654-84107646)x1	ABHD17C, AP3B2 +22 more	Copy number loss	not provided	GPathogenic
Select item 687860	GRCh37/hg19 15q25.2(chr15:82688216-84796779)x1	ADAMTSL3, AP3B2 +12 more	Copy number loss	not provided	GPathogenic
Select item 685629	GRCh37/hg19 15q25.2(chr15:82468371-84797068)x3	ADAMTSL3, AP3B2 +14 more	Copy number gain	not provided	GUncertain significance
Select item 666438	GRCh37/hg19 15q25.2(chr15:83214012-84772030)x1	ADAMTSL3, AP3B2 +11 more	Copy number loss	not provided	GPathogenic
Select item 564225	GRCh37/hg19 15q25.2(chr15:83391440-83509161)x1	WHAMM, SCARNA15 +1 more	Copy number loss	not provided	GLikely benign
Select item 564223	GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2	ABHD17C, ADAMTS7 +49 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 549640	NC_000015.9:g.83214012_84812693del1598682	ADAMTSL3, AP3B2 +11 more	Deletion	Primary amenorrhea	GLikely pathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +154 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 441779	GRCh37/hg19 15q25.2(chr15:82606408-84970771)x3	ADAMTSL3, AP3B2 +12 more	Copy number gain	See cases	GUncertain significance
Select item 441679	GRCh37/hg19 15q25.2(chr15:83169558-84847653)x1	ADAMTSL3, AP3B2 +11 more	Copy number loss	See cases	GLikely pathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 395044	GRCh37/hg19 15q25.1-25.2(chr15:80703867-83955596)x1	ABHD17C, AP3B2 +22 more	Copy number loss	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253956	GRCh37/hg19 15q25.2(chr15:82133231-83455333)x3	FSD2, EFL1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic
Select item 221753	GRCh37/hg19 15q25.2(chr15:83213963-84811815)x1	ADAMTSL3, AP3B2 +11 more	Copy number loss	Premature ovarian failure	GLikely pathogenic
Select item 221501	GRCh38/hg38 15q25.2(chr15:82663590-82826799)x1	LOC130057771, LOC130057772 +14 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 155058	GRCh38/hg38 15q25.2-25.3(chr15:82627214-85243616)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 147948	GRCh38/hg38 15q25.2-25.3(chr15:82560915-85185613)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 58083	GRCh38/hg38 15q25.2(chr15:82558402-84121082)x3	LOC130057773, LOC130057774 +72 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 71