VWA7[gene] - ClinVar

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

Search results

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
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 2207503	NM_025258.3(VWA7):c.2527T>C (p.Ser843Pro)	VWA7 (S843P)	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 2215851	NM_025258.3(VWA7):c.2446G>A (p.Val816Ile)	VWA7 (V816I)	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 2261702	NM_025258.3(VWA7):c.2401G>A (p.Val801Met)	VWA7 (V801M)	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 2614950	NM_025258.3(VWA7):c.2213C>T (p.Pro738Leu)	VWA7 (P738L)	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 2364581	NM_025258.3(VWA7):c.2057C>T (p.Ser686Leu)	VWA7 (S686L)	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 2267982	NM_025258.3(VWA7):c.2023G>A (p.Val675Met)	VWA7 (V675M)	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 2525296	NM_025258.3(VWA7):c.1915G>A (p.Gly639Arg)	VWA7 (G639R)	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 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 3332476	NM_025258.3(VWA7):c.1697A>G (p.Gln566Arg)	VWA7 (Q566R)	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 2228204	NM_025258.3(VWA7):c.1574T>A (p.Leu525His)	VWA7 (L525H)	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 3332470	NM_025258.3(VWA7):c.1502T>C (p.Leu501Pro)	VWA7 (L501P)	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 2274076	NM_025258.3(VWA7):c.1421C>A (p.Ala474Asp)	VWA7 (A474D)	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 2588541	NM_025258.3(VWA7):c.1385C>T (p.Pro462Leu)	VWA7 (P462L)	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 2252025	NM_025258.3(VWA7):c.1349G>A (p.Arg450Lys)	VWA7 (R450K)	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 2341471	NM_025258.3(VWA7):c.1163G>A (p.Gly388Asp)	VWA7 (G388D)	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 2459811	NM_025258.3(VWA7):c.1158G>C (p.Leu386Phe)	VWA7 (L386F)	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 2401531	NM_025258.3(VWA7):c.1073C>T (p.Pro358Leu)	LOC121132678, VWA7 (P358L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2251287	NM_025258.3(VWA7):c.893G>A (p.Arg298His)	VWA7 (R298H)	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 2361707	NM_025258.3(VWA7):c.797C>T (p.Thr266Ile)	VWA7 (T266I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2238916	NM_025258.3(VWA7):c.742C>G (p.His248Asp)	VWA7 (H248D)	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 2324200	NM_025258.3(VWA7):c.686C>A (p.Ser229Tyr)	VWA7 (S229Y)	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 3332471	NM_025258.3(VWA7):c.605C>T (p.Ala202Val)	VWA7 (A202V)	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 2556432	NM_025258.3(VWA7):c.410G>T (p.Arg137Leu)	VWA7 (R137L)	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 2352584	NM_025258.3(VWA7):c.359C>T (p.Ser120Phe)	VWA7 (S120F)	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 2623832	NM_025258.3(VWA7):c.326G>A (p.Arg109His)	VWA7 (R109H)	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 2346412	NM_025258.3(VWA7):c.224A>T (p.Glu75Val)	VWA7 (E75V)	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 3189343	NM_025258.3(VWA7):c.194C>T (p.Pro65Leu)	VWA7 (P65L)	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 3332472	NM_025258.3(VWA7):c.76A>G (p.Thr26Ala)	VWA7 (T26A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 69