WHAMM[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 105

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 58083	GRCh38/hg38 15q25.2(chr15:82558402-84121082)x3	LOC130057773, LOC130057774 +72 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 155058	GRCh38/hg38 15q25.2-25.3(chr15:82627214-85243616)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	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 3190529	NM_001080435.3(WHAMM):c.206C>T (p.Pro69Leu)	LOC130057777, WHAMM (P69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598904	NM_001080435.3(WHAMM):c.248C>T (p.Ser83Leu)	LOC130057777, WHAMM (S83L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190537	NM_001080435.3(WHAMM):c.257G>A (p.Gly86Glu)	LOC130057777, WHAMM (G86E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597743	NM_001080435.3(WHAMM):c.331G>C (p.Glu111Gln)	LOC130057778, WHAMM (E111Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190538	NM_001080435.3(WHAMM):c.335T>G (p.Leu112Arg)	LOC130057778, WHAMM (L112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599512	NM_001080435.3(WHAMM):c.340G>A (p.Val114Met)	LOC130057778, WHAMM (V114M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312415	NM_001080435.3(WHAMM):c.350G>A (p.Gly117Asp)	LOC130057778, WHAMM (G117D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509710	NM_001080435.3(WHAMM):c.373G>T (p.Gly125Trp)	LOC130057778, WHAMM (G125W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509711	NM_001080435.3(WHAMM):c.393G>C (p.Trp131Cys)	LOC130057778, WHAMM (W131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205562	NM_001080435.3(WHAMM):c.409C>T (p.Pro137Ser)	LOC130057778, WHAMM (P137S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290957	NM_001080435.3(WHAMM):c.425T>G (p.Leu142Arg)	WHAMM (L142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537256	NM_001080435.3(WHAMM):c.455A>C (p.Tyr152Ser)	WHAMM (Y152S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295954	NM_001080435.3(WHAMM):c.469G>A (p.Ala157Thr)	WHAMM (A157T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190540	NM_001080435.3(WHAMM):c.511C>T (p.Pro171Ser)	WHAMM (P171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358939	NM_001080435.3(WHAMM):c.512C>T (p.Pro171Leu)	WHAMM (P171L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393116	NM_001080435.3(WHAMM):c.566C>T (p.Ala189Val)	WHAMM (A189V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562218	NM_001080435.3(WHAMM):c.640A>G (p.Met214Val)	WHAMM (M214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 929777	NM_001080435.3(WHAMM):c.734C>T (p.Pro245Leu)	WHAMM (P245L)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 2385465	NM_001080435.3(WHAMM):c.818G>A (p.Arg273Lys)	WHAMM (R273K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738745	NM_001080435.3(WHAMM):c.876C>T (p.Val292=)	WHAMM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2411870	NM_001080435.3(WHAMM):c.877G>A (p.Val293Ile)	WHAMM (V293I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325194	NM_001080435.3(WHAMM):c.899T>G (p.Val300Gly)	WHAMM (V300G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789333	NM_001080435.3(WHAMM):c.963G>A (p.Ala321=)	WHAMM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3190523	NM_001080435.3(WHAMM):c.1006T>G (p.Leu336Val)	WHAMM (L336V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209436	NM_001080435.3(WHAMM):c.1025T>G (p.Met342Arg)	WHAMM (M342R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366408	NM_001080435.3(WHAMM):c.1103A>G (p.Lys368Arg)	WHAMM (K368R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254479	NM_001080435.3(WHAMM):c.1163A>C (p.Gln388Pro)	WHAMM (Q388P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493984	NM_001080435.3(WHAMM):c.1257A>C (p.Lys419Asn)	WHAMM (K419N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349332	NM_001080435.3(WHAMM):c.1265T>C (p.Ile422Thr)	WHAMM (I422T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367899	NM_001080435.3(WHAMM):c.1292A>G (p.Tyr431Cys)	WHAMM (Y431C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257296	NM_001080435.3(WHAMM):c.1313C>G (p.Pro438Arg)	WHAMM (P438R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243910	NM_001080435.3(WHAMM):c.1328T>G (p.Val443Gly)	WHAMM (V443G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190524	NM_001080435.3(WHAMM):c.1448G>A (p.Arg483Gln)	WHAMM (R483Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190525	NM_001080435.3(WHAMM):c.1499C>T (p.Ala500Val)	WHAMM (A500V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286516	NM_001080435.3(WHAMM):c.1523G>A (p.Arg508His)	WHAMM (R508H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2282754	NM_001080435.3(WHAMM):c.1604G>A (p.Arg535His)	WHAMM (R535H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610782	NM_001080435.3(WHAMM):c.1658C>T (p.Ser553Phe)	WHAMM (S553F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535148	NM_001080435.3(WHAMM):c.1669A>G (p.Thr557Ala)	WHAMM (T557A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252511	NM_001080435.3(WHAMM):c.1754T>G (p.Val585Gly)	WHAMM (V585G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774716	NM_001080435.3(WHAMM):c.1763C>T (p.Pro588Leu)	WHAMM (P588L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2513913	NM_001080435.3(WHAMM):c.1784G>A (p.Gly595Asp)	WHAMM (G595D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487788	NM_001080435.3(WHAMM):c.1843A>C (p.Asn615His)	WHAMM (N615H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265099	NM_001080435.3(WHAMM):c.1955C>T (p.Pro652Leu)	WHAMM (P652L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606277	NM_001080435.3(WHAMM):c.1966C>A (p.Pro656Thr)	WHAMM (P656T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190526	NM_001080435.3(WHAMM):c.1970C>G (p.Pro657Arg)	WHAMM (P657R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597831	NM_001080435.3(WHAMM):c.1978C>T (p.Arg660Cys)	WHAMM (R660C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522061	NM_001080435.3(WHAMM):c.1979G>A (p.Arg660His)	WHAMM (R660H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478316	NM_001080435.3(WHAMM):c.2024G>C (p.Gly675Ala)	WHAMM (G675A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190527	NM_001080435.3(WHAMM):c.2029C>T (p.Arg677Trp)	WHAMM (R677W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190528	NM_001080435.3(WHAMM):c.2030G>A (p.Arg677Gln)	WHAMM (R677Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299469	NM_001080435.3(WHAMM):c.2053C>G (p.Pro685Ala)	WHAMM (P685A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364275	NM_001080435.3(WHAMM):c.2056C>T (p.Arg686Cys)	WHAMM (R686C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364188	NM_001080435.3(WHAMM):c.2071G>A (p.Glu691Lys)	WHAMM (E691K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524533	NM_001080435.3(WHAMM):c.2093G>A (p.Arg698His)	WHAMM (R698H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324828	NM_001080435.3(WHAMM):c.2117G>A (p.Cys706Tyr)	WHAMM (C706Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533155	NM_001080435.3(WHAMM):c.2158G>A (p.Gly720Ser)	LOC126862198, WHAMM (G720S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190530	NM_001080435.3(WHAMM):c.2167C>T (p.Pro723Ser)	LOC126862198, WHAMM (P723S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250854	NM_001080435.3(WHAMM):c.2173C>T (p.Arg725Trp)	LOC126862198, WHAMM (R725W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190531	NM_001080435.3(WHAMM):c.2197C>T (p.Arg733Cys)	LOC126862198, WHAMM (R733C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190532	NM_001080435.3(WHAMM):c.2198G>C (p.Arg733Pro)	LOC126862198, WHAMM (R733P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2251171	NM_001080435.3(WHAMM):c.2209G>A (p.Ala737Thr)	LOC126862198, WHAMM (A737T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3190533	NM_001080435.3(WHAMM):c.2210C>T (p.Ala737Val)	LOC126862198, WHAMM (A737V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354880	NM_001080435.3(WHAMM):c.2219A>G (p.Asn740Ser)	LOC126862198, WHAMM (N740S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190535	NM_001080435.3(WHAMM):c.2258T>A (p.Leu753Gln)	LOC126862198, WHAMM (L753Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190536	NM_001080435.3(WHAMM):c.2278C>T (p.Leu760Phe)	LOC126862198, WHAMM (L760F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399202	NM_001080435.3(WHAMM):c.2302C>G (p.Pro768Ala)	LOC126862198, WHAMM (P768A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276700	NM_001080435.3(WHAMM):c.2303C>T (p.Pro768Leu)	LOC126862198, WHAMM (P768L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297853	NM_001080435.3(WHAMM):c.2318G>A (p.Arg773His)	LOC126862198, WHAMM (R773H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458393	NM_001080435.3(WHAMM):c.2339G>A (p.Ser780Asn)	LOC126862198, WHAMM (S780N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	BLM, BNC1 +209 more	Copy number gain	not provided	GPathogenic
Select item 2425191	NC_000015.9:g.(?_83328312)_(83621287_?)del	AP3B2, FSD2 +3 more	Deletion	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 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 +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)	AAGAB, ABHD17C +559 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	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2