ClinVar for Gene (Select 57705) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3189802	NM_001394531.1(WDFY4):c.8974G>C (p.Val2992Leu)	WDFY4 (V2992L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189801	NM_001394531.1(WDFY4):c.8918G>A (p.Arg2973His)	WDFY4 (R2973H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3189800	NM_001394531.1(WDFY4):c.8818G>A (p.Ala2940Thr)	WDFY4 (A2940T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189799	NM_001394531.1(WDFY4):c.8547C>G (p.Ser2849Arg)	WDFY4 (S2849R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189798	NM_001394531.1(WDFY4):c.8533C>T (p.Pro2845Ser)	WDFY4 (P2845S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189796	NM_001394531.1(WDFY4):c.8480C>T (p.Pro2827Leu)	WDFY4 (P2827L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189795	NM_001394531.1(WDFY4):c.810G>C (p.Gln270His)	WDFY4 (Q270H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189794	NM_001394531.1(WDFY4):c.8027C>T (p.Thr2676Met)	WDFY4 (T2676M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189793	NM_001394531.1(WDFY4):c.7694A>G (p.Asn2565Ser)	WDFY4 (N2565S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189792	NM_001394531.1(WDFY4):c.7597G>T (p.Gly2533Cys)	WDFY4 (G2533C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189791	NM_001394531.1(WDFY4):c.7479G>C (p.Lys2493Asn)	WDFY4 (K2493N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189790	NM_001394531.1(WDFY4):c.740T>C (p.Ile247Thr)	WDFY4 (I247T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189789	NM_001394531.1(WDFY4):c.7330T>C (p.Phe2444Leu)	WDFY4 (F2444L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189788	NM_001394531.1(WDFY4):c.7088A>G (p.Glu2363Gly)	WDFY4 (E2363G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189787	NM_001394531.1(WDFY4):c.7019A>G (p.Glu2340Gly)	WDFY4 (E2340G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189786	NM_001394531.1(WDFY4):c.6949G>A (p.Glu2317Lys)	WDFY4 (E2317K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189785	NM_001394531.1(WDFY4):c.6814G>A (p.Gly2272Ser)	WDFY4 (G2272S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189784	NM_001394531.1(WDFY4):c.6601C>A (p.Leu2201Met)	WDFY4 (L2201M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189783	NM_001394531.1(WDFY4):c.6554G>A (p.Arg2185His)	WDFY4 (R2185H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189782	NM_001394531.1(WDFY4):c.6427A>T (p.Ile2143Phe)	WDFY4 (I2143F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189781	NM_001394531.1(WDFY4):c.6417T>A (p.Asp2139Glu)	WDFY4 (D2139E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189780	NM_001394531.1(WDFY4):c.6385C>G (p.Leu2129Val)	WDFY4 (L2129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189779	NM_001394531.1(WDFY4):c.6301G>A (p.Val2101Met)	WDFY4 (V2101M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189778	NM_001394531.1(WDFY4):c.6253C>T (p.Pro2085Ser)	WDFY4 (P2085S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189777	NM_001394531.1(WDFY4):c.6212A>G (p.Asn2071Ser)	WDFY4 (N2071S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3189776	NM_001394531.1(WDFY4):c.5828G>C (p.Gly1943Ala)	WDFY4 (G1943A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189775	NM_001394531.1(WDFY4):c.5827G>A (p.Gly1943Ser)	WDFY4 (G1943S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3189773	NM_001394531.1(WDFY4):c.5376G>C (p.Gln1792His)	WDFY4 (Q1792H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189771	NM_001394531.1(WDFY4):c.5032G>A (p.Asp1678Asn)	WDFY4 (D1678N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189770	NM_001394531.1(WDFY4):c.4922T>G (p.Val1641Gly)	WDFY4 (V1641G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189769	NM_001394531.1(WDFY4):c.491C>T (p.Pro164Leu)	WDFY4 (P164L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189768	NM_001394531.1(WDFY4):c.4885C>A (p.Leu1629Met)	WDFY4 (L1629M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189767	NM_001394531.1(WDFY4):c.4115T>C (p.Ile1372Thr)	WDFY4 (I1372T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189766	NM_001394531.1(WDFY4):c.407A>G (p.Asp136Gly)	WDFY4 (D136G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189765	NM_001394531.1(WDFY4):c.4013G>T (p.Gly1338Val)	WDFY4 (G1338V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189764	NM_001394531.1(WDFY4):c.3979G>A (p.Ala1327Thr)	WDFY4 (A1327T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189763	NM_001394531.1(WDFY4):c.3946G>A (p.Ala1316Thr)	WDFY4 (A1316T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189762	NM_001394531.1(WDFY4):c.358C>T (p.Arg120Trp)	WDFY4 (R120W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189761	NM_001394531.1(WDFY4):c.3520A>C (p.Lys1174Gln)	WDFY4 (K1174Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189760	NM_001394531.1(WDFY4):c.3341G>A (p.Cys1114Tyr)	WDFY4 (C1114Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189759	NM_001394531.1(WDFY4):c.3331G>A (p.Val1111Ile)	WDFY4 (V1111I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189758	NM_001394531.1(WDFY4):c.3272G>A (p.Arg1091His)	WDFY4 (R1091H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189757	NM_001394531.1(WDFY4):c.3271C>T (p.Arg1091Cys)	WDFY4 (R1091C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189756	NM_001394531.1(WDFY4):c.3055G>A (p.Ala1019Thr)	WDFY4 (A1019T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189755	NM_001394531.1(WDFY4):c.2710C>T (p.Arg904Cys)	WDFY4 (R904C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189754	NM_001394531.1(WDFY4):c.254G>T (p.Gly85Val)	WDFY4 (G85V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189753	NM_001394531.1(WDFY4):c.2477C>T (p.Ala826Val)	WDFY4 (A826V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189752	NM_001394531.1(WDFY4):c.2449C>G (p.Leu817Val)	WDFY4 (L817V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189751	NM_001394531.1(WDFY4):c.2210C>G (p.Thr737Arg)	WDFY4 (T737R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189750	NM_001394531.1(WDFY4):c.2194C>A (p.Arg732Ser)	WDFY4 (R732S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189749	NM_001394531.1(WDFY4):c.2077C>T (p.His693Tyr)	WDFY4 (H693Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189748	NM_001394531.1(WDFY4):c.2068G>A (p.Ala690Thr)	WDFY4 (A690T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189747	NM_001394531.1(WDFY4):c.1972G>A (p.Glu658Lys)	WDFY4 (E658K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189746	NM_001394531.1(WDFY4):c.1913G>A (p.Arg638His)	WDFY4 (R638H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189745	NM_001394531.1(WDFY4):c.1711G>C (p.Val571Leu)	WDFY4 (V571L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189744	NM_001394531.1(WDFY4):c.1525C>A (p.Leu509Ile)	WDFY4 (L509I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189743	NM_001394531.1(WDFY4):c.1030G>T (p.Val344Leu)	WDFY4 (V344L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148882	GRCh37/hg19 10q11.22-11.23(chr10:46975077-51089085)x3	AGAP10, AGAP9 +28 more	Copy number gain	See cases	GUncertain significance
Select item 3120432	NM_001378102.1(LRRC18):c.625G>A (p.Ala209Thr)	LRRC18, WDFY4 (A209T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120431	NM_001378102.1(LRRC18):c.373G>A (p.Ala125Thr)	LRRC18, WDFY4 (A125T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3120430	NM_001378102.1(LRRC18):c.142C>T (p.Arg48Cys)	LRRC18, WDFY4 (R48C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059895	NM_001394531.1(WDFY4):c.9216C>T (p.Cys3072=)	WDFY4	Single nucleotide variant (synonymous variant)	WDFY4-related condition	GBenign
Select item 3059007	NM_001394531.1(WDFY4):c.7580G>A (p.Ser2527Asn)	WDFY4 (S2527N)	Single nucleotide variant (missense variant)	WDFY4-related condition	GBenign
Select item 3051079	NM_001394531.1(WDFY4):c.833C>G (p.Thr278Ser)	WDFY4 (T278S)	Single nucleotide variant (missense variant)	WDFY4-related condition	GLikely benign
Select item 3049572	NM_001394531.1(WDFY4):c.7675G>A (p.Ala2559Thr)	WDFY4 (A2559T)	Single nucleotide variant (missense variant)	WDFY4-related condition	GLikely benign
Select item 3045565	NM_001394531.1(WDFY4):c.2894_2902del (p.Gly965_Pro968delinsAla)	WDFY4	Deletion (inframe_indel)	WDFY4-related condition	GLikely benign
Select item 3045353	NM_001394531.1(WDFY4):c.827C>T (p.Thr276Met)	WDFY4 (T276M)	Single nucleotide variant (missense variant)	WDFY4-related condition	GLikely benign
Select item 3040599	NM_001394531.1(WDFY4):c.7449G>A (p.Leu2483=)	WDFY4	Single nucleotide variant (synonymous variant)	WDFY4-related condition	GLikely benign
Select item 3032446	NM_001394531.1(WDFY4):c.4064T>C (p.Leu1355Ser)	WDFY4 (L1355S)	Single nucleotide variant (missense variant)	WDFY4-related condition	GUncertain significance
Select item 3029964	NM_001394531.1(WDFY4):c.6553C>T (p.Arg2185Cys)	WDFY4 (R2185C)	Single nucleotide variant (missense variant)	WDFY4-related condition	GUncertain significance
Select item 2684603	GRCh37/hg19 10q11.22-11.23(chr10:48349961-51817663)x3	AGAP6, ARHGAP22 +25 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2663790	NC_000010.10:g.(?_49383876)_(52383915_?)del	AGAP6, ARHGAP22 +22 more	Deletion	Cockayne syndrome type 2	GPathogenic
Select item 2637221	NM_001394531.1(WDFY4):c.1702C>T (p.His568Tyr)	WDFY4 (H568Y)	Single nucleotide variant (missense variant)	WDFY4-related condition	GUncertain significance
Select item 2633409	NM_001394531.1(WDFY4):c.3799C>A (p.His1267Asn)	WDFY4 (H1267N)	Single nucleotide variant (missense variant)	WDFY4-related condition	GUncertain significance
Select item 2631725	NM_001394531.1(WDFY4):c.9155T>A (p.Val3052Asp)	WDFY4 (V3052D)	Single nucleotide variant (missense variant)	WDFY4-related condition	GUncertain significance
Select item 2631714	NM_001394531.1(WDFY4):c.5479G>C (p.Ala1827Pro)	WDFY4 (A1827P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2628665	NM_001394531.1(WDFY4):c.9284T>C (p.Met3095Thr)	WDFY4 (M3095T)	Single nucleotide variant (missense variant)	WDFY4-related condition	GUncertain significance
Select item 2628545	NM_001394531.1(WDFY4):c.2620C>T (p.Arg874Cys)	WDFY4 (R874C)	Single nucleotide variant (missense variant)	WDFY4-related condition	GUncertain significance
Select item 2624384	NM_001394531.1(WDFY4):c.5476A>T (p.Ile1826Leu)	WDFY4 (I1826L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620552	NM_001378102.1(LRRC18):c.727C>T (p.Pro243Ser)	LRRC18, WDFY4 (P243S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618824	NM_001394531.1(WDFY4):c.295G>A (p.Val99Met)	WDFY4 (V99M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618599	NM_001394531.1(WDFY4):c.3839T>C (p.Phe1280Ser)	WDFY4 (F1280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617854	NM_001394531.1(WDFY4):c.7771A>G (p.Lys2591Glu)	WDFY4 (K2591E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617528	NM_001394531.1(WDFY4):c.637C>T (p.Leu213Phe)	WDFY4 (L213F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615481	NM_001394531.1(WDFY4):c.6638C>A (p.Ala2213Asp)	WDFY4 (A2213D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615157	NM_001394531.1(WDFY4):c.497T>A (p.Leu166Gln)	WDFY4 (L166Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610980	NM_001394531.1(WDFY4):c.4996G>A (p.Ala1666Thr)	WDFY4 (A1666T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605821	NM_001394531.1(WDFY4):c.6501G>T (p.Met2167Ile)	WDFY4 (M2167I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605507	NM_001394531.1(WDFY4):c.6464A>C (p.Lys2155Thr)	WDFY4 (K2155T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604573	NM_001394531.1(WDFY4):c.497T>G (p.Leu166Arg)	WDFY4 (L166R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602920	NM_001394531.1(WDFY4):c.7377G>A (p.Ser2459=)	WDFY4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2602362	NM_001394531.1(WDFY4):c.401A>T (p.Asp134Val)	WDFY4 (D134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599880	NM_001378102.1(LRRC18):c.589A>C (p.Asn197His)	LRRC18, WDFY4 (N197H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598021	NM_001394531.1(WDFY4):c.397G>A (p.Val133Met)	WDFY4 (V133M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2594856	NM_001394531.1(WDFY4):c.7769C>T (p.Pro2590Leu)	WDFY4 (P2590L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593593	NM_001394531.1(WDFY4):c.908C>T (p.Ser303Leu)	WDFY4 (S303L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591367	NM_001394531.1(WDFY4):c.7800G>A (p.Met2600Ile)	WDFY4 (M2600I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588827	NM_001394531.1(WDFY4):c.5104C>T (p.Arg1702Cys)	WDFY4 (R1702C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588822	NM_001394531.1(WDFY4):c.9115A>G (p.Ile3039Val)	WDFY4 (I3039V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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