"GeneDx"[submitter] AND "WDFY3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 151718	GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1	ABRAXAS1, AFF1 +146 more	Copy number loss	See cases	GPathogenic
Select item 2431020	NM_014991.6(WDFY3):c.10540del (p.Gln3514fs)	WDFY3 (Q3514fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1708789	NM_014991.6(WDFY3):c.10491_10496delinsAAAAA (p.Ile3499fs)	WDFY3 (I3499fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 1326489	NM_014991.6(WDFY3):c.10475C>G (p.Ser3492Cys)	WDFY3 (S3492C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311773	NM_014991.6(WDFY3):c.10345G>A (p.Asp3449Asn)	WDFY3 (D3449N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579757	NM_014991.6(WDFY3):c.10292G>A (p.Arg3431Gln)	WDFY3 (R3431Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1705012	NM_014991.6(WDFY3):c.10280T>G (p.Val3427Gly)	WDFY3 (V3427G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443427	NM_014991.6(WDFY3):c.10220A>G (p.Asn3407Ser)	WDFY3 (N3407S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365343	NM_014991.6(WDFY3):c.10210C>G (p.Arg3404Gly)	WDFY3 (R3404G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663390	NM_014991.6(WDFY3):c.10195C>T (p.His3399Tyr)	WDFY3 (H3399Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343050	NM_014991.6(WDFY3):c.10153C>T (p.Arg3385Ter)	WDFY3 (R3385*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2430873	NM_014991.6(WDFY3):c.10147+2T>C	WDFY3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2576808	NM_014991.6(WDFY3):c.10120G>A (p.Val3374Met)	WDFY3 (V3374M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695455	NM_014991.6(WDFY3):c.10102C>G (p.His3368Asp)	WDFY3 (H3368D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708928	NM_014991.6(WDFY3):c.10076A>G (p.His3359Arg)	WDFY3 (H3359R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662729	NM_014991.6(WDFY3):c.10016G>A (p.Ser3339Asn)	WDFY3 (S3339N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699581	NM_014991.6(WDFY3):c.9992C>T (p.Ser3331Phe)	WDFY3 (S3331F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580736	NM_014991.6(WDFY3):c.9974A>C (p.Asp3325Ala)	WDFY3 (D3325A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369762	NM_014991.6(WDFY3):c.9901C>G (p.Pro3301Ala)	WDFY3 (P3301A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365726	NM_014991.6(WDFY3):c.9841G>C (p.Glu3281Gln)	WDFY3 (E3281Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327193	NM_014991.6(WDFY3):c.9832G>A (p.Ala3278Thr)	WDFY3 (A3278T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372742	NM_014991.6(WDFY3):c.9775C>G (p.Pro3259Ala)	WDFY3 (P3259A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1194063	NC_000004.12:g.84683944dup	WDFY3	Duplication	not provided	GUncertain significance
Select item 3377921	NM_014991.6(WDFY3):c.9707A>G (p.His3236Arg)	WDFY3 (H3236R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343166	NM_014991.6(WDFY3):c.9691G>C (p.Val3231Leu)	WDFY3 (V3231L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803436	NM_014991.6(WDFY3):c.9691G>A (p.Val3231Ile)	WDFY3 (V3231I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712149	NM_014991.6(WDFY3):c.9619A>T (p.Thr3207Ser)	WDFY3 (T3207S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708631	NM_014991.6(WDFY3):c.9611G>T (p.Ser3204Ile)	WDFY3 (S3204I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708724	NM_014991.6(WDFY3):c.9610A>T (p.Ser3204Cys)	WDFY3 (S3204C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809914	NM_014991.6(WDFY3):c.9560G>A (p.Cys3187Tyr)	WDFY3 (C3187Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683909	NM_014991.6(WDFY3):c.9549C>G (p.Asp3183Glu)	WDFY3 (D3183E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707776	NM_014991.6(WDFY3):c.9439C>A (p.Arg3147Ser)	WDFY3 (R3147S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582192	NM_014991.6(WDFY3):c.9371T>G (p.Leu3124Arg)	WDFY3 (L3124R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253574	NM_014991.6(WDFY3):c.9353C>T (p.Thr3118Ile)	WDFY3 (T3118I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571965	NM_014991.6(WDFY3):c.9238G>A (p.Gly3080Ser)	WDFY3 (G3080S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1285965	NM_014991.6(WDFY3):c.9205-99del	WDFY3	Deletion (intron variant)	not provided	GBenign
Select item 1245012	NM_014991.6(WDFY3):c.9204+209C>T	LOC126807101, WDFY3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246067	NM_014991.6(WDFY3):c.9204+47T>C	LOC126807101, WDFY3	Single nucleotide variant (intron variant)	Microcephaly 18, primary, autosomal dominant +1 more	GBenign
Select item 3368328	NM_014991.6(WDFY3):c.9199G>A (p.Asp3067Asn)	LOC126807101, WDFY3 (D3067N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368144	NM_014991.6(WDFY3):c.9181C>A (p.Leu3061Met)	LOC126807101, WDFY3 (L3061M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049124	NM_014991.6(WDFY3):c.9155G>C (p.Trp3052Ser)	LOC126807101, WDFY3 (W3052S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663275	NM_014991.6(WDFY3):c.9126C>G (p.Ile3042Met)	LOC126807101, WDFY3 (I3042M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803656	NM_014991.6(WDFY3):c.9108_9113del (p.Glu3036_Asn3038delinsAsp)	LOC126807101, WDFY3	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 2572673	NM_014991.6(WDFY3):c.9100G>A (p.Ala3034Thr)	LOC126807101, WDFY3 (A3034T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497791	NM_014991.6(WDFY3):c.9079T>C (p.Cys3027Arg)	LOC126807101, WDFY3 (C3027R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363333	NM_014991.6(WDFY3):c.9076G>T (p.Val3026Leu)	LOC126807101, WDFY3 (V3026L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710854	NM_014991.6(WDFY3):c.8999T>A (p.Ile3000Asn)	WDFY3 (I3000N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1208615	NM_014991.6(WDFY3):c.8941C>T (p.Arg2981Ter)	WDFY3 (R2981*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1308521	NM_014991.6(WDFY3):c.8929C>T (p.Arg2977Ter)	WDFY3 (R2977*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1310484	NM_014991.6(WDFY3):c.8915C>T (p.Pro2972Leu)	WDFY3 (P2972L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365983	NM_014991.6(WDFY3):c.8866G>C (p.Gly2956Arg)	WDFY3 (G2956R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371107	NM_014991.6(WDFY3):c.8864T>C (p.Ile2955Thr)	WDFY3 (I2955T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1329686	NM_014991.6(WDFY3):c.8777A>T (p.Glu2926Val)	WDFY3 (E2926V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676896	NM_014991.6(WDFY3):c.8764C>T (p.Pro2922Ser)	WDFY3 (P2922S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363377	NM_014991.6(WDFY3):c.8732T>C (p.Ile2911Thr)	WDFY3 (I2911T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505725	NM_014991.6(WDFY3):c.8707G>A (p.Val2903Met)	WDFY3 (V2903M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500659	NM_014991.6(WDFY3):c.8656G>C (p.Asp2886His)	WDFY3 (D2886H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1266202	NM_014991.6(WDFY3):c.8597-26del	WDFY3	Deletion (intron variant)	not provided	GBenign
Select item 1697099	NM_014991.6(WDFY3):c.8503G>T (p.Ala2835Ser)	WDFY3 (A2835S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430947	NM_014991.6(WDFY3):c.8467C>T (p.Arg2823Trp)	WDFY3 (R2823W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1526362	NM_014991.6(WDFY3):c.8428T>A (p.Phe2810Ile)	WDFY3 (F2810I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1287023	NM_014991.6(WDFY3):c.8336-104T>C	WDFY3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248646	NM_014991.6(WDFY3):c.8218-154T>C	WDFY3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244415	NM_014991.6(WDFY3):c.8217+143G>C	WDFY3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2430415	NM_014991.6(WDFY3):c.8212T>G (p.Ser2738Ala)	WDFY3 (S2738A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810537	NM_014991.6(WDFY3):c.8209G>A (p.Asp2737Asn)	WDFY3 (D2737N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313329	NM_014991.6(WDFY3):c.8104G>A (p.Glu2702Lys)	WDFY3 (E2702K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371527	NM_014991.6(WDFY3):c.8101G>A (p.Gly2701Ser)	WDFY3 (G2701S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1253820	NM_014991.6(WDFY3):c.8094G>A (p.Trp2698Ter)	WDFY3 (W2698*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1269400	NM_014991.6(WDFY3):c.8042+180A>T	WDFY3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181117	NM_014991.6(WDFY3):c.8042+168G>T	WDFY3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281534	NM_014991.6(WDFY3):c.8042+48A>T	WDFY3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1803494	NM_014991.6(WDFY3):c.8017C>T (p.Arg2673Ter)	WDFY3 (R2673*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1269596	NM_014991.6(WDFY3):c.7962-96A>G	WDFY3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265908	NM_014991.6(WDFY3):c.7962-188C>G	WDFY3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 446237	NM_014991.6(WDFY3):c.7909C>T (p.Arg2637Trp)	WDFY3 (R2637W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1320670	NM_014991.6(WDFY3):c.7900G>A (p.Gly2634Arg)	WDFY3 (G2634R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1270830	NM_014991.6(WDFY3):c.7875+25T>A	WDFY3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2430591	NM_014991.6(WDFY3):c.7768A>G (p.Ile2590Val)	WDFY3 (I2590V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662266	NM_014991.6(WDFY3):c.7763A>C (p.Glu2588Ala)	WDFY3 (E2588A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504895	NM_014991.6(WDFY3):c.7757T>G (p.Met2586Arg)	WDFY3 (M2586R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1273034	NM_014991.6(WDFY3):c.7754+62G>A	WDFY3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2663433	NM_014991.6(WDFY3):c.7690G>T (p.Val2564Leu)	WDFY3 (V2564L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370993	NM_014991.6(WDFY3):c.7642C>G (p.Leu2548Val)	WDFY3 (L2548V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806544	NM_014991.6(WDFY3):c.7639G>T (p.Gly2547Cys)	WDFY3 (G2547C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1243930	NM_014991.6(WDFY3):c.7606-56A>G	WDFY3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281694	NM_014991.6(WDFY3):c.7606-70G>A	WDFY3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298961	NM_014991.6(WDFY3):c.7471C>T (p.Arg2491Ter)	WDFY3 (R2491*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1238256	NM_014991.6(WDFY3):c.7442-218A>G	WDFY3	Single nucleotide variant (intron variant)	not provided	GBenign
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 1226771	NM_014991.6(WDFY3):c.7272+63dup	WDFY3	Duplication (intron variant)	not provided	GBenign
Select item 1276069	NM_014991.6(WDFY3):c.7272+60T>C	WDFY3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2662731	NM_014991.6(WDFY3):c.7244C>T (p.Pro2415Leu)	WDFY3 (P2415L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370994	NM_014991.6(WDFY3):c.7226A>C (p.Glu2409Ala)	WDFY3 (E2409A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314203	NM_014991.6(WDFY3):c.7222T>A (p.Ser2408Thr)	WDFY3 (S2408T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308847	NM_014991.6(WDFY3):c.7200dup (p.Glu2401Ter)	WDFY3 (E2401*)	Duplication (nonsense)	not provided	GUncertain significance
Select item 3364488	NM_014991.6(WDFY3):c.7179T>G (p.His2393Gln)	WDFY3 (H2393Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574549	NM_014991.6(WDFY3):c.7145A>G (p.Lys2382Arg)	WDFY3 (K2382R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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