25732[HGNC] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 2588563	NM_022480.4(KLHL25):c.1766C>T (p.Ala589Val)	KLHL25 (A589V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515471	NM_022480.4(KLHL25):c.1733C>T (p.Thr578Met)	KLHL25 (T578M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464092	NM_022480.4(KLHL25):c.1726A>G (p.Ile576Val)	KLHL25 (I576V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115580	NM_022480.4(KLHL25):c.1721C>T (p.Ser574Leu)	KLHL25 (S574L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519919	NM_022480.4(KLHL25):c.1715C>T (p.Pro572Leu)	KLHL25 (P572L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394231	NM_022480.4(KLHL25):c.1708A>G (p.Thr570Ala)	KLHL25 (T570A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115579	NM_022480.4(KLHL25):c.1678C>G (p.Pro560Ala)	KLHL25 (P560A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273853	NM_022480.4(KLHL25):c.1643G>T (p.Gly548Val)	KLHL25 (G548V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348920	NM_022480.4(KLHL25):c.1514C>G (p.Ala505Gly)	KLHL25 (A505G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115578	NM_022480.4(KLHL25):c.1486A>T (p.Ile496Phe)	KLHL25 (I496F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115577	NM_022480.4(KLHL25):c.1465G>A (p.Val489Ile)	KLHL25 (V489I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332783	NM_022480.4(KLHL25):c.1447C>T (p.Arg483Trp)	KLHL25 (R483W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386958	NM_022480.4(KLHL25):c.1429G>A (p.Glu477Lys)	KLHL25 (E477K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115576	NM_022480.4(KLHL25):c.1423A>G (p.Lys475Glu)	KLHL25 (K475E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274131	NM_022480.4(KLHL25):c.1403C>T (p.Ser468Leu)	KLHL25 (S468L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310178	NM_022480.4(KLHL25):c.1382A>G (p.Lys461Arg)	KLHL25 (K461R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208138	NM_022480.4(KLHL25):c.1211C>T (p.Pro404Leu)	KLHL25 (P404L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115575	NM_022480.4(KLHL25):c.1201G>C (p.Gly401Arg)	KLHL25 (G401R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115574	NM_022480.4(KLHL25):c.1180G>A (p.Gly394Arg)	KLHL25 (G394R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115573	NM_022480.4(KLHL25):c.1153G>A (p.Glu385Lys)	KLHL25 (E385K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323614	NM_022480.4(KLHL25):c.1142A>G (p.His381Arg)	KLHL25 (H381R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362405	NM_022480.4(KLHL25):c.1090G>A (p.Val364Ile)	KLHL25 (V364I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292074	NM_022480.4(KLHL25):c.1072G>A (p.Val358Ile)	KLHL25 (V358I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553774	NM_022480.4(KLHL25):c.1034C>T (p.Thr345Met)	KLHL25 (T345M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115596	NM_022480.4(KLHL25):c.988C>T (p.Arg330Trp)	KLHL25 (R330W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511351	NM_022480.4(KLHL25):c.973G>A (p.Asp325Asn)	KLHL25 (D325N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288952	NM_022480.4(KLHL25):c.911C>A (p.Thr304Asn)	KLHL25 (T304N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319453	NM_022480.4(KLHL25):c.866G>C (p.Arg289Pro)	KLHL25 (R289P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350894	NM_022480.4(KLHL25):c.811C>T (p.Arg271Cys)	KLHL25 (R271C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487339	NM_022480.4(KLHL25):c.796A>G (p.Met266Val)	KLHL25 (M266V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2213099	NM_022480.4(KLHL25):c.793A>T (p.Ile265Phe)	KLHL25 (I265F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288951	NM_022480.4(KLHL25):c.761C>T (p.Ala254Val)	KLHL25 (A254V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288948	NM_022480.4(KLHL25):c.706G>A (p.Val236Met)	KLHL25 (V236M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537167	NM_022480.4(KLHL25):c.700C>T (p.Arg234Cys)	KLHL25 (R234C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115595	NM_022480.4(KLHL25):c.679G>T (p.Val227Phe)	KLHL25 (V227F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272254	NM_022480.4(KLHL25):c.678G>C (p.Lys226Asn)	KLHL25 (K226N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115594	NM_022480.4(KLHL25):c.669G>T (p.Glu223Asp)	KLHL25 (E223D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115592	NM_022480.4(KLHL25):c.661G>A (p.Asp221Asn)	KLHL25 (D221N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115591	NM_022480.4(KLHL25):c.619G>A (p.Glu207Lys)	KLHL25 (E207K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115590	NM_022480.4(KLHL25):c.613G>A (p.Glu205Lys)	KLHL25 (E205K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288953	NM_022480.4(KLHL25):c.593C>T (p.Ser198Leu)	KLHL25 (S198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248912	NM_022480.4(KLHL25):c.584A>G (p.Asp195Gly)	KLHL25 (D195G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612960	NM_022480.4(KLHL25):c.547G>A (p.Glu183Lys)	KLHL25 (E183K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115589	NM_022480.4(KLHL25):c.508C>A (p.Arg170Ser)	KLHL25 (R170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475822	NM_022480.4(KLHL25):c.488G>A (p.Arg163Gln)	KLHL25 (R163Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406522	NM_022480.4(KLHL25):c.485G>A (p.Arg162His)	KLHL25 (R162H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115587	NM_022480.4(KLHL25):c.469G>A (p.Asp157Asn)	KLHL25 (D157N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559588	NM_022480.4(KLHL25):c.446G>T (p.Cys149Phe)	KLHL25 (C149F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115586	NM_022480.4(KLHL25):c.409G>C (p.Ala137Pro)	KLHL25 (A137P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342272	NM_022480.4(KLHL25):c.409G>A (p.Ala137Thr)	KLHL25 (A137T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521918	NM_022480.4(KLHL25):c.394G>A (p.Val132Met)	KLHL25 (V132M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115585	NM_022480.4(KLHL25):c.388C>T (p.His130Tyr)	KLHL25 (H130Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288945	NM_022480.4(KLHL25):c.385T>A (p.Phe129Ile)	KLHL25 (F129I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115584	NM_022480.4(KLHL25):c.373G>A (p.Asp125Asn)	KLHL25 (D125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115583	NM_022480.4(KLHL25):c.358C>G (p.Leu120Val)	KLHL25 (L120V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288949	NM_022480.4(KLHL25):c.348C>G (p.Asn116Lys)	KLHL25 (N116K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288947	NM_022480.4(KLHL25):c.338A>G (p.Asn113Ser)	KLHL25 (N113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551312	NM_022480.4(KLHL25):c.335T>C (p.Ile112Thr)	KLHL25 (I112T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365269	NM_022480.4(KLHL25):c.275A>G (p.Asn92Ser)	KLHL25 (N92S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288946	NM_022480.4(KLHL25):c.247C>T (p.Arg83Trp)	KLHL25 (R83W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465594	NM_022480.4(KLHL25):c.239G>A (p.Arg80Gln)	KLHL25 (R80Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597042	NM_022480.4(KLHL25):c.226A>G (p.Ser76Gly)	KLHL25 (S76G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115581	NM_022480.4(KLHL25):c.206G>A (p.Arg69His)	KLHL25 (R69H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336104	NM_022480.4(KLHL25):c.119G>A (p.Arg40His)	KLHL25 (R40H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266629	NM_022480.4(KLHL25):c.64C>A (p.Leu22Ile)	KLHL25 (L22I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321495	NM_022480.4(KLHL25):c.62C>T (p.Thr21Ile)	KLHL25 (T21I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517800	NM_022480.4(KLHL25):c.44C>T (p.Thr15Met)	KLHL25 (T15M)	Single nucleotide variant (missense variant)	not specified	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 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
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 1526466	GRCh37/hg19 15q25.3(chr15:86299840-86725153)	AGBL1, KLHL25	Copy number gain	not specified	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 815742	GRCh37/hg19 15q25.3(chr15:86321274-87025980)x3	AGBL1, KLHL25	Copy number gain	not provided	GUncertain significance
Select item 815741	GRCh37/hg19 15q25.3(chr15:86299113-86724844)x3	AGBL1, KLHL25	Copy number gain	not provided	GUncertain significance
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic
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	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	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)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395560	GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3	ABHD2, ACAN +79 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 394871	GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3	ABHD2, ACAN +87 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 95