"Ambry Genetics"[submitter] AND "VWA5B2"[gene] - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3189336	NM_001390846.1(VWA5B2):c.62G>C (p.Arg21Pro)	VWA5B2 (R21P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2274768	NM_001390846.1(VWA5B2):c.67T>C (p.Cys23Arg)	VWA5B2 (C23R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2322534	NM_001390846.1(VWA5B2):c.76G>A (p.Gly26Ser)	VWA5B2 (G26S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3189316	NM_001390846.1(VWA5B2):c.101G>A (p.Arg34Gln)	VWA5B2 (R34Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2406621	NM_001390846.1(VWA5B2):c.147C>G (p.Phe49Leu)	VWA5B2 (F49L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3332455	NM_001390846.1(VWA5B2):c.250G>T (p.Ala84Ser)	VWA5B2 (A84S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2251957	NM_001390846.1(VWA5B2):c.281G>A (p.Gly94Glu)	VWA5B2 (G94E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3189328	NM_001390846.1(VWA5B2):c.286C>A (p.Pro96Thr)	VWA5B2 (P96T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2398550	NM_001390846.1(VWA5B2):c.305C>T (p.Ala102Val)	VWA5B2 (A102V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3332463	NM_001390846.1(VWA5B2):c.482C>T (p.Pro161Leu)	VWA5B2 (P161L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2225585	NM_001390846.1(VWA5B2):c.521G>T (p.Cys174Phe)	VWA5B2 (C174F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2222563	NM_001390846.1(VWA5B2):c.526G>A (p.Asp176Asn)	VWA5B2 (D176N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2364502	NM_001390846.1(VWA5B2):c.575T>G (p.Leu192Arg)	VWA5B2 (L192R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2238899	NM_001390846.1(VWA5B2):c.632C>T (p.Pro211Leu)	VWA5B2 (P211L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3189337	NM_001390846.1(VWA5B2):c.655G>A (p.Glu219Lys)	VWA5B2 (E219K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2289288	NM_001390846.1(VWA5B2):c.725C>G (p.Ala242Gly)	VWA5B2 (A242G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231050	NM_001390846.1(VWA5B2):c.728C>T (p.Pro243Leu)	VWA5B2 (P247L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248207	NM_001390846.1(VWA5B2):c.733C>A (p.His245Asn)	VWA5B2 (H249N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189338	NM_001390846.1(VWA5B2):c.766C>G (p.Leu256Val)	VWA5B2 (L37V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463460	NM_001390846.1(VWA5B2):c.791G>A (p.Arg264Gln)	VWA5B2 (R264Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484710	NM_001390846.1(VWA5B2):c.822G>C (p.Glu274Asp)	VWA5B2 (E274D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541419	NM_001390846.1(VWA5B2):c.883C>T (p.Arg295Trp)	VWA5B2 (R299W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230343	NM_001390846.1(VWA5B2):c.940C>T (p.Arg314Trp)	VWA5B2 (R314W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332460	NM_001390846.1(VWA5B2):c.941G>A (p.Arg314Gln)	VWA5B2 (R95Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220859	NM_001390846.1(VWA5B2):c.1001C>T (p.Ala334Val)	VWA5B2 (A338V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2479340	NM_001390846.1(VWA5B2):c.1151A>G (p.Asn384Ser)	VWA5B2 (N165S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276953	NM_001390846.1(VWA5B2):c.1169C>T (p.Thr390Met)	VWA5B2 (T390M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254951	NM_001390846.1(VWA5B2):c.1193A>C (p.Glu398Ala)	VWA5B2 (E398A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332457	NM_001390846.1(VWA5B2):c.1201C>A (p.Pro401Thr)	VWA5B2 (P182T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378176	NM_001390846.1(VWA5B2):c.1241T>C (p.Ile414Thr)	VWA5B2 (I195T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408382	NM_001390846.1(VWA5B2):c.1247C>T (p.Thr416Ile)	VWA5B2 (T197I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317955	NM_001390846.1(VWA5B2):c.1250T>C (p.Leu417Pro)	VWA5B2 (L417P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189317	NM_001390846.1(VWA5B2):c.1300G>A (p.Val434Met)	VWA5B2 (V438M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2526707	NM_001390846.1(VWA5B2):c.1531A>G (p.Met511Val)	VWA5B2 (M292V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232407	NM_001390846.1(VWA5B2):c.1550G>A (p.Arg517Gln)	VWA5B2 (R298Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281321	NM_001390846.1(VWA5B2):c.1576G>A (p.Asp526Asn)	VWA5B2 (D307N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411766	NM_001390846.1(VWA5B2):c.1708C>T (p.Arg570Cys)	VWA5B2 (R574C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354078	NM_001390846.1(VWA5B2):c.1729C>A (p.Pro577Thr)	VWA5B2 (P358T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408268	NM_001390846.1(VWA5B2):c.1751G>T (p.Gly584Val)	VWA5B2 (G584V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591581	NM_001390846.1(VWA5B2):c.1756G>A (p.Val586Met)	VWA5B2 (V586M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189318	NM_001390846.1(VWA5B2):c.1789G>T (p.Ala597Ser)	VWA5B2 (A601S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189319	NM_001390846.1(VWA5B2):c.1952T>C (p.Ile651Thr)	VWA5B2 (I651T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189320	NM_001390846.1(VWA5B2):c.1958G>A (p.Arg653His)	VWA5B2 (R653H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332464	NM_001390846.1(VWA5B2):c.2023G>A (p.Glu675Lys)	VWA5B2 (E457K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353513	NM_001390846.1(VWA5B2):c.2065T>A (p.Ser689Thr)	VWA5B2 (S470T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361011	NM_001390846.1(VWA5B2):c.2086G>A (p.Glu696Lys)	VWA5B2 (E478K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189321	NM_001390846.1(VWA5B2):c.2096C>T (p.Ala699Val)	VWA5B2 (A481V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332467	NM_001390846.1(VWA5B2):c.2098C>T (p.Pro700Ser)	VWA5B2 (P700S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209435	NM_001390846.1(VWA5B2):c.2128C>T (p.Arg710Cys)	VWA5B2 (R710C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279950	NM_001390846.1(VWA5B2):c.2150C>T (p.Pro717Leu)	VWA5B2 (P718L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189322	NM_001390846.1(VWA5B2):c.2281G>A (p.Gly761Ser)	VWA5B2 (G762S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332462	NM_001390846.1(VWA5B2):c.2302G>A (p.Gly768Ser)	VWA5B2 (G550S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372492	NM_001390846.1(VWA5B2):c.2336T>C (p.Leu779Pro)	VWA5B2 (L560P +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2402530	NM_001390846.1(VWA5B2):c.2344C>A (p.Pro782Thr)	VWA5B2 (P563T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243065	NM_001390846.1(VWA5B2):c.2377G>A (p.Gly793Ser)	VWA5B2 (G798S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189323	NM_001390846.1(VWA5B2):c.2452T>C (p.Phe818Leu)	VWA5B2 (F599L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332456	NM_001390846.1(VWA5B2):c.2456C>T (p.Thr819Met)	VWA5B2 (T600M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248725	NM_001390846.1(VWA5B2):c.2507C>A (p.Ala836Asp)	VWA5B2 (A617D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332465	NM_001390846.1(VWA5B2):c.2524G>A (p.Val842Met)	VWA5B2 (V623M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189324	NM_001390846.1(VWA5B2):c.2573T>G (p.Val858Gly)	VWA5B2 (V858G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372494	NM_001390846.1(VWA5B2):c.2647G>T (p.Asp883Tyr)	VWA5B2 (D664Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239983	NM_001390846.1(VWA5B2):c.2681T>C (p.Val894Ala)	VWA5B2 (V675A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189325	NM_001390846.1(VWA5B2):c.2701C>G (p.Leu901Val)	VWA5B2 (L901V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189326	NM_001390846.1(VWA5B2):c.2726C>T (p.Thr909Ile)	VWA5B2 (T909I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332459	NM_001390846.1(VWA5B2):c.2750G>A (p.Arg917Gln)	VWA5B2 (R698Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189327	NM_001390846.1(VWA5B2):c.2801C>T (p.Ser934Phe)	VWA5B2 (S935F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268933	NM_001390846.1(VWA5B2):c.2827G>C (p.Asp943His)	VWA5B2 (D724H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528756	NM_001390846.1(VWA5B2):c.2870G>T (p.Cys957Phe)	VWA5B2 (C739F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384163	NM_001390846.1(VWA5B2):c.2897G>A (p.Gly966Glu)	VWA5B2 (G747E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189329	NM_001390846.1(VWA5B2):c.2995G>A (p.Asp999Asn)	VWA5B2 (D1004N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273735	NM_001390846.1(VWA5B2):c.3032G>A (p.Gly1011Glu)	VWA5B2 (G1016E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236058	NM_001390846.1(VWA5B2):c.3041C>T (p.Ala1014Val)	VWA5B2 (A1018V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620437	NM_001390846.1(VWA5B2):c.3059C>A (p.Pro1020His)	VWA5B2 (P1020H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332466	NM_001390846.1(VWA5B2):c.3074C>T (p.Pro1025Leu)	VWA5B2 (P1025L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374839	NM_001390846.1(VWA5B2):c.3096C>G (p.Ser1032Arg)	VWA5B2 (S1033R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523419	NM_001390846.1(VWA5B2):c.3159C>A (p.Ser1053Arg)	VWA5B2 (S1053R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332458	NM_001390846.1(VWA5B2):c.3283G>A (p.Val1095Met)	VWA5B2 (V1095M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189330	NM_001390846.1(VWA5B2):c.3395C>T (p.Ser1132Leu)	VWA5B2 (S1136L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314783	NM_001390846.1(VWA5B2):c.3413G>A (p.Gly1138Asp)	VWA5B2 (G1143D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546567	NM_001390846.1(VWA5B2):c.3464A>G (p.Glu1155Gly)	VWA5B2 (E1160G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259779	NM_001390846.1(VWA5B2):c.3466G>A (p.Gly1156Arg)	VWA5B2 (G937R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274767	NM_001390846.1(VWA5B2):c.3487C>T (p.Arg1163Trp)	VWA5B2 (R1167W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352872	NM_001390846.1(VWA5B2):c.3490G>A (p.Gly1164Ser)	VWA5B2 (G1169S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291020	NM_001390846.1(VWA5B2):c.3532C>G (p.His1178Asp)	VWA5B2 (H1182D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189332	NM_001390846.1(VWA5B2):c.3553G>C (p.Asp1185His)	VWA5B2 (D1185H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189331	NM_001390846.1(VWA5B2):c.3553G>A (p.Asp1185Asn)	VWA5B2 (D1185N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556212	NM_001390846.1(VWA5B2):c.3572C>T (p.Ala1191Val)	VWA5B2 (A1192V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189333	NM_001390846.1(VWA5B2):c.3611C>T (p.Pro1204Leu)	VWA5B2 (P1208L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189334	NM_001390846.1(VWA5B2):c.3719C>A (p.Ala1240Glu)	LOC123453203, VWA5B2 (A1021E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 89