"Ambry Genetics"[submitter] AND "WDFY3"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 140

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2549327	NM_014991.6(WDFY3):c.10567C>T (p.Pro3523Ser)	WDFY3 (P3523S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1033721	NM_014991.6(WDFY3):c.10486C>T (p.Arg3496Cys)	WDFY3 (R3496C)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 2378927	NM_014991.6(WDFY3):c.10337CTG[2] (p.Ala3448del)	WDFY3 (A3448del)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2230691	NM_014991.6(WDFY3):c.10315G>C (p.Val3439Leu)	WDFY3 (V3439L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332654	NM_014991.6(WDFY3):c.10280T>C (p.Val3427Ala)	WDFY3 (V3427A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189722	NM_014991.6(WDFY3):c.10226A>G (p.His3409Arg)	WDFY3 (H3409R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189721	NM_014991.6(WDFY3):c.10186C>G (p.Leu3396Val)	WDFY3 (L3396V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229231	NM_014991.6(WDFY3):c.10087C>T (p.Pro3363Ser)	WDFY3 (P3363S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615936	NM_014991.6(WDFY3):c.10045G>T (p.Val3349Leu)	WDFY3 (V3349L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615935	NM_014991.6(WDFY3):c.10040T>C (p.Ile3347Thr)	WDFY3 (I3347T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299827	NM_014991.6(WDFY3):c.10039A>G (p.Ile3347Val)	WDFY3 (I3347V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256314	NM_014991.6(WDFY3):c.10033G>A (p.Gly3345Ser)	WDFY3 (G3345S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295610	NM_014991.6(WDFY3):c.9998G>A (p.Arg3333His)	WDFY3 (R3333H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3189742	NM_014991.6(WDFY3):c.9956C>T (p.Thr3319Ile)	WDFY3 (T3319I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595402	NM_014991.6(WDFY3):c.9955A>G (p.Thr3319Ala)	WDFY3 (T3319A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2513253	NM_014991.6(WDFY3):c.9840C>G (p.Asp3280Glu)	WDFY3 (D3280E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229123	NM_014991.6(WDFY3):c.9597del (p.Asn3200fs)	WDFY3 (N3200fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2589691	NM_014991.6(WDFY3):c.9439C>G (p.Arg3147Gly)	WDFY3 (R3147G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258103	NM_014991.6(WDFY3):c.9361C>G (p.Gln3121Glu)	WDFY3 (Q3121E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328598	NM_014991.6(WDFY3):c.9326C>T (p.Thr3109Ile)	WDFY3 (T3109I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1695095	NM_014991.6(WDFY3):c.9304G>A (p.Val3102Met)	WDFY3 (V3102M)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 2291365	NM_014991.6(WDFY3):c.9130C>G (p.Pro3044Ala)	LOC126807101, WDFY3 (P3044A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384773	NM_014991.6(WDFY3):c.8837A>G (p.Asn2946Ser)	WDFY3 (N2946S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228990	NM_014991.6(WDFY3):c.8618A>C (p.Lys2873Thr)	WDFY3 (K2873T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554396	NM_014991.6(WDFY3):c.8617A>G (p.Lys2873Glu)	WDFY3 (K2873E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189741	NM_014991.6(WDFY3):c.8555A>G (p.Tyr2852Cys)	WDFY3 (Y2852C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332642	NM_014991.6(WDFY3):c.8486G>C (p.Arg2829Pro)	WDFY3 (R2829P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556667	NM_014991.6(WDFY3):c.8389G>A (p.Ala2797Thr)	WDFY3 (A2797T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511136	NM_014991.6(WDFY3):c.8233A>G (p.Asn2745Asp)	WDFY3 (N2745D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221870	NM_014991.6(WDFY3):c.7961+6G>A	WDFY3	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 985311	NM_014991.6(WDFY3):c.7906G>A (p.Gly2636Arg)	WDFY3 (G2636R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284439	NM_014991.6(WDFY3):c.7809G>C (p.Lys2603Asn)	WDFY3 (K2603N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1690887	NM_014991.6(WDFY3):c.7771A>G (p.Ile2591Val)	WDFY3 (I2591V)	Single nucleotide variant (missense variant)	See cases +1 more	GLikely benign
Select item 2310608	NM_014991.6(WDFY3):c.7741A>G (p.Thr2581Ala)	WDFY3 (T2581A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400495	NM_014991.6(WDFY3):c.7545A>G (p.Ile2515Met)	WDFY3 (I2515M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394490	NM_014991.6(WDFY3):c.7514T>C (p.Leu2505Pro)	WDFY3 (L2505P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332655	NM_014991.6(WDFY3):c.7370T>A (p.Val2457Glu)	WDFY3 (V2457E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2471183	NM_014991.6(WDFY3):c.7325T>C (p.Met2442Thr)	WDFY3 (M2442T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3332639	NM_014991.6(WDFY3):c.7324A>G (p.Met2442Val)	WDFY3 (M2442V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281869	NM_014991.6(WDFY3):c.7198A>G (p.Thr2400Ala)	WDFY3 (T2400A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479532	NM_014991.6(WDFY3):c.6925C>A (p.Gln2309Lys)	WDFY3 (Q2309K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620337	NM_014991.6(WDFY3):c.6844C>G (p.Leu2282Val)	WDFY3 (L2282V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189739	NM_014991.6(WDFY3):c.6790G>C (p.Ala2264Pro)	WDFY3 (A2264P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345293	NM_014991.6(WDFY3):c.6737A>G (p.Lys2246Arg)	WDFY3 (K2246R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189738	NM_014991.6(WDFY3):c.6664A>G (p.Thr2222Ala)	WDFY3 (T2222A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547571	NM_014991.6(WDFY3):c.6548G>A (p.Gly2183Asp)	WDFY3 (G2183D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599897	NM_014991.6(WDFY3):c.6542C>A (p.Pro2181Gln)	WDFY3 (P2181Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212938	NM_014991.6(WDFY3):c.6469G>A (p.Val2157Met)	WDFY3 (V2157M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560309	NM_014991.6(WDFY3):c.6367C>T (p.Leu2123Phe)	WDFY3 (L2123F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476743	NM_014991.6(WDFY3):c.6358C>T (p.Leu2120Phe)	WDFY3 (L2120F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210085	NM_014991.6(WDFY3):c.6328G>A (p.Val2110Ile)	WDFY3 (V2110I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3189737	NM_014991.6(WDFY3):c.6277C>A (p.His2093Asn)	WDFY3 (H2093N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332649	NM_014991.6(WDFY3):c.6245G>T (p.Arg2082Ile)	WDFY3 (R2082I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189736	NM_014991.6(WDFY3):c.6217A>G (p.Ile2073Val)	WDFY3 (I2073V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493559	NM_014991.6(WDFY3):c.6129C>G (p.Asn2043Lys)	WDFY3 (N2043K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2619155	NM_014991.6(WDFY3):c.6117G>T (p.Gln2039His)	WDFY3 (Q2039H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2402022	NM_014991.6(WDFY3):c.6062_6064del (p.Asp2021del)	WDFY3 (D2021del)	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2276298	NM_014991.6(WDFY3):c.5924G>C (p.Cys1975Ser)	WDFY3 (C1975S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 493396	NM_014991.6(WDFY3):c.5893T>C (p.Phe1965Leu)	WDFY3 (F1965L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2597522	NM_014991.6(WDFY3):c.5870C>T (p.Pro1957Leu)	WDFY3 (P1957L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322377	NM_014991.6(WDFY3):c.5861C>G (p.Thr1954Ser)	WDFY3 (T1954S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611911	NM_014991.6(WDFY3):c.5754T>A (p.Asp1918Glu)	WDFY3 (D1918E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220401	NM_014991.6(WDFY3):c.5723G>A (p.Arg1908His)	WDFY3 (R1908H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370220	NM_014991.6(WDFY3):c.5519T>C (p.Val1840Ala)	WDFY3 (V1840A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3189735	NM_014991.6(WDFY3):c.5397C>G (p.Ile1799Met)	WDFY3 (I1799M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189734	NM_014991.6(WDFY3):c.5200G>C (p.Gly1734Arg)	WDFY3 (G1734R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332650	NM_014991.6(WDFY3):c.5074G>A (p.Val1692Ile)	WDFY3 (V1692I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325614	NM_014991.6(WDFY3):c.5038C>T (p.His1680Tyr)	WDFY3 (H1680Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278792	NM_014991.6(WDFY3):c.5029G>A (p.Glu1677Lys)	WDFY3 (E1677K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550881	NM_014991.6(WDFY3):c.4958G>A (p.Ser1653Asn)	WDFY3 (S1653N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3189733	NM_014991.6(WDFY3):c.4846A>C (p.Thr1616Pro)	WDFY3 (T1616P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557312	NM_014991.6(WDFY3):c.4795G>A (p.Val1599Ile)	WDFY3 (V1599I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367095	NM_014991.6(WDFY3):c.4661G>A (p.Arg1554Gln)	WDFY3 (R1554Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1690885	NM_014991.6(WDFY3):c.4487C>T (p.Thr1496Ile)	WDFY3 (T1496I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2314078	NM_014991.6(WDFY3):c.4222G>A (p.Val1408Ile)	WDFY3 (V1408I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3332641	NM_014991.6(WDFY3):c.4112A>G (p.Asn1371Ser)	WDFY3 (N1371S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332646	NM_014991.6(WDFY3):c.4048G>A (p.Ala1350Thr)	WDFY3 (A1350T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225423	NM_014991.6(WDFY3):c.3802A>G (p.Thr1268Ala)	WDFY3 (T1268A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402836	NM_014991.6(WDFY3):c.3799C>T (p.Pro1267Ser)	WDFY3 (P1267S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520312	NM_014991.6(WDFY3):c.3791G>A (p.Arg1264His)	WDFY3 (R1264H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280775	NM_014991.6(WDFY3):c.3745A>G (p.Ile1249Val)	WDFY3 (I1249V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 916574	NM_014991.6(WDFY3):c.3737A>G (p.Tyr1246Cys)	WDFY3 (Y1246C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2219373	NM_014991.6(WDFY3):c.3736T>G (p.Tyr1246Asp)	WDFY3 (Y1246D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2304270	NM_014991.6(WDFY3):c.3721G>C (p.Val1241Leu)	WDFY3 (V1241L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048029	NM_014991.6(WDFY3):c.3631G>A (p.Ala1211Thr)	WDFY3 (A1211T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2497964	NM_014991.6(WDFY3):c.3382C>T (p.Arg1128Ter)	WDFY3 (R1128*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2523880	NM_014991.6(WDFY3):c.3329A>G (p.His1110Arg)	WDFY3 (H1110R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400549	NM_014991.6(WDFY3):c.3198T>A (p.His1066Gln)	WDFY3 (H1066Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189731	NM_014991.6(WDFY3):c.3187T>G (p.Leu1063Val)	WDFY3 (L1063V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2438563	NM_014991.6(WDFY3):c.3172C>G (p.Leu1058Val)	WDFY3 (L1058V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2270013	NM_014991.6(WDFY3):c.3168-1G>A	WDFY3	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GUncertain significance
Select item 977339	NM_014991.6(WDFY3):c.3034G>C (p.Ala1012Pro)	WDFY3 (A1012P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189730	NM_014991.6(WDFY3):c.3008G>A (p.Arg1003Gln)	WDFY3-AS1, WDFY3 (R1003Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233451	NM_014991.6(WDFY3):c.2968A>G (p.Thr990Ala)	WDFY3, WDFY3-AS1 (T990A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247736	NM_014991.6(WDFY3):c.2963T>C (p.Leu988Pro)	WDFY3, WDFY3-AS1 (L988P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3332648	NM_014991.6(WDFY3):c.2946C>G (p.Ile982Met)	WDFY3-AS1, WDFY3 (I982M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1207061	NM_014991.6(WDFY3):c.2941A>C (p.Met981Leu)	WDFY3, WDFY3-AS1 (M981L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3189729	NM_014991.6(WDFY3):c.2883del (p.Lys961fs)	WDFY3, WDFY3-AS1 (K961fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2286413	NM_014991.6(WDFY3):c.2857G>A (p.Gly953Ser)	WDFY3, WDFY3-AS1 (G953S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549062	NM_014991.6(WDFY3):c.2747A>G (p.Asp916Gly)	WDFY3, WDFY3-AS1 (D916G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 2