ClinVar for Gene (Select 80737) - ClinVar

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Links from Gene

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332476	NM_025258.3(VWA7):c.1697A>G (p.Gln566Arg)	VWA7 (Q566R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332475	NM_025258.3(VWA7):c.1198C>A (p.Gln400Lys)	VWA7 (Q400K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332474	NM_025258.3(VWA7):c.433C>T (p.Arg145Trp)	VWA7 (R145W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332473	NM_025258.3(VWA7):c.208C>T (p.Pro70Ser)	VWA7 (P70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332472	NM_025258.3(VWA7):c.76A>G (p.Thr26Ala)	VWA7 (T26A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3332471	NM_025258.3(VWA7):c.605C>T (p.Ala202Val)	VWA7 (A202V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332470	NM_025258.3(VWA7):c.1502T>C (p.Leu501Pro)	VWA7 (L501P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332469	NM_025258.3(VWA7):c.2239C>T (p.Arg747Cys)	VWA7 (R747C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332468	NM_025258.3(VWA7):c.887G>T (p.Arg296Leu)	VWA7 (R296L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246239	NC_000006.11:g.(?_31620520)_(31937492_?)del	ABHD16A, APOM +28 more	Deletion	not provided	GUncertain significance
Select item 3246158	NC_000006.11:g.(?_31631971)_(31895135_?)del	ABHD16A, C2 +23 more	Deletion	not provided	GPathogenic
Select item 3189352	NM_025258.3(VWA7):c.994G>A (p.Ala332Thr)	LOC121132678, VWA7 (A332T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189351	NM_025258.3(VWA7):c.918G>A (p.Arg306=)	LOC121132678, VWA7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3189350	NM_025258.3(VWA7):c.748G>T (p.Asp250Tyr)	VWA7 (D250Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189349	NM_025258.3(VWA7):c.716C>A (p.Pro239His)	VWA7 (P239H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189348	NM_025258.3(VWA7):c.375C>A (p.Asp125Glu)	VWA7 (D125E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189347	NM_025258.3(VWA7):c.325C>T (p.Arg109Cys)	VWA7 (R109C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189346	NM_025258.3(VWA7):c.2470C>T (p.Arg824Trp)	VWA7 (R824W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189345	NM_025258.3(VWA7):c.2182G>A (p.Glu728Lys)	VWA7 (E728K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189344	NM_025258.3(VWA7):c.2123C>T (p.Ala708Val)	VWA7 (A708V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189343	NM_025258.3(VWA7):c.194C>T (p.Pro65Leu)	VWA7 (P65L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189341	NM_025258.3(VWA7):c.1684C>T (p.Arg562Cys)	VWA7 (R562C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189340	NM_025258.3(VWA7):c.1408G>A (p.Ala470Thr)	VWA7 (A470T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189339	NM_025258.3(VWA7):c.119C>G (p.Pro40Arg)	VWA7 (P40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623832	NM_025258.3(VWA7):c.326G>A (p.Arg109His)	VWA7 (R109H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614950	NM_025258.3(VWA7):c.2213C>T (p.Pro738Leu)	VWA7 (P738L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588541	NM_025258.3(VWA7):c.1385C>T (p.Pro462Leu)	VWA7 (P462L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556432	NM_025258.3(VWA7):c.410G>T (p.Arg137Leu)	VWA7 (R137L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528662	NM_025258.3(VWA7):c.1528G>A (p.Val510Ile)	VWA7 (V510I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525296	NM_025258.3(VWA7):c.1915G>A (p.Gly639Arg)	VWA7 (G639R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516332	NM_025258.3(VWA7):c.1361G>A (p.Arg454Gln)	VWA7 (R454Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479852	NM_025258.3(VWA7):c.1118C>T (p.Pro373Leu)	VWA7 (P373L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459811	NM_025258.3(VWA7):c.1158G>C (p.Leu386Phe)	VWA7 (L386F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 2401531	NM_025258.3(VWA7):c.1073C>T (p.Pro358Leu)	LOC121132678, VWA7 (P358L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378992	NM_025258.3(VWA7):c.2437G>A (p.Ala813Thr)	VWA7 (A813T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364581	NM_025258.3(VWA7):c.2057C>T (p.Ser686Leu)	VWA7 (S686L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361707	NM_025258.3(VWA7):c.797C>T (p.Thr266Ile)	VWA7 (T266I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356421	NM_025258.3(VWA7):c.1159G>T (p.Gly387Trp)	VWA7 (G387W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352584	NM_025258.3(VWA7):c.359C>T (p.Ser120Phe)	VWA7 (S120F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347898	NM_025258.3(VWA7):c.2033C>T (p.Pro678Leu)	VWA7 (P678L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346412	NM_025258.3(VWA7):c.224A>T (p.Glu75Val)	VWA7 (E75V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341471	NM_025258.3(VWA7):c.1163G>A (p.Gly388Asp)	VWA7 (G388D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324200	NM_025258.3(VWA7):c.686C>A (p.Ser229Tyr)	VWA7 (S229Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295758	NM_025258.3(VWA7):c.1775G>T (p.Gly592Val)	VWA7 (G592V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295757	NM_025258.3(VWA7):c.1774G>T (p.Gly592Trp)	VWA7 (G592W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289033	NM_025258.3(VWA7):c.1876G>T (p.Val626Phe)	VWA7 (V626F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280563	NM_025258.3(VWA7):c.2573C>T (p.Thr858Ile)	VWA7 (T858I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274076	NM_025258.3(VWA7):c.1421C>A (p.Ala474Asp)	VWA7 (A474D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267982	NM_025258.3(VWA7):c.2023G>A (p.Val675Met)	VWA7 (V675M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265519	NM_025258.3(VWA7):c.1499C>T (p.Ala500Val)	VWA7 (A500V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261702	NM_025258.3(VWA7):c.2401G>A (p.Val801Met)	VWA7 (V801M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252025	NM_025258.3(VWA7):c.1349G>A (p.Arg450Lys)	VWA7 (R450K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251287	NM_025258.3(VWA7):c.893G>A (p.Arg298His)	VWA7 (R298H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247257	NM_025258.3(VWA7):c.344A>G (p.Asp115Gly)	VWA7 (D115G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238916	NM_025258.3(VWA7):c.742C>G (p.His248Asp)	VWA7 (H248D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238915	NM_025258.3(VWA7):c.660T>A (p.Asn220Lys)	VWA7 (N220K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233567	NM_025258.3(VWA7):c.2012C>G (p.Pro671Arg)	VWA7 (P671R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233566	NM_025258.3(VWA7):c.2011C>G (p.Pro671Ala)	VWA7 (P671A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228204	NM_025258.3(VWA7):c.1574T>A (p.Leu525His)	VWA7 (L525H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215851	NM_025258.3(VWA7):c.2446G>A (p.Val816Ile)	VWA7 (V816I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207503	NM_025258.3(VWA7):c.2527T>C (p.Ser843Pro)	VWA7 (S843P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527232	GRCh37/hg19 6p21.33(chr6:31384577-31902308)	ABHD16A, AIF1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 69