WDFY3[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 547

<< First< Prev

Page of 6

	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 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992716, LOC129992717 +533 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	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 147709	GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1	ABRAXAS1, ANTXR2 +137 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 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 147434	GRCh38/hg38 4q21.23-22.1(chr4:84329551-87679204)x1	AFF1, AFF1-AS1 +62 more	Copy number loss	See cases	GPathogenic
Select item 146118	GRCh38/hg38 4q21.23-21.3(chr4:84577519-86077547)x3	ARHGAP24, CDS1 +17 more	Copy number gain	See cases	GPathogenic
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 2431020	NM_014991.6(WDFY3):c.10540del (p.Gln3514fs)	WDFY3 (Q3514fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1703112	NM_014991.6(WDFY3):c.10537T>G (p.Leu3513Val)	WDFY3 (L3513V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879606	NM_014991.6(WDFY3):c.10531T>C (p.Tyr3511His)	WDFY3 (Y3511H)	Single nucleotide variant (missense 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 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 1326489	NM_014991.6(WDFY3):c.10475C>G (p.Ser3492Cys)	WDFY3 (S3492C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672993	NM_014991.6(WDFY3):c.10467C>T (p.Arg3489=)	WDFY3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654858	NM_014991.6(WDFY3):c.10467C>G (p.Arg3489=)	WDFY3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2430325	NM_014991.6(WDFY3):c.10418G>A (p.Arg3473Gln)	WDFY3 (R3473Q)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2629160	NM_014991.6(WDFY3):c.10417C>T (p.Arg3473Ter)	WDFY3 (R3473*)	Single nucleotide variant (nonsense)	WDFY3-related condition	GUncertain significance
Select item 2378927	NM_014991.6(WDFY3):c.10337CTG[2] (p.Ala3448del)	WDFY3 (A3448del)	Microsatellite (inframe_deletion)	Inborn genetic diseases	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 1298960	NM_014991.6(WDFY3):c.10334G>A (p.Arg3445His)	WDFY3 (R3445H)	Single nucleotide variant (missense variant)	not provided	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 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 3046993	NM_014991.6(WDFY3):c.10260-4G>A	WDFY3	Single nucleotide variant (intron variant)	WDFY3-related condition	GLikely benign
Select item 161687	NM_014991.6(WDFY3):c.10260-7C>G	WDFY3	Single nucleotide variant (intron variant)	Malignant tumor of prostate	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 1368163	NM_014991.6(WDFY3):c.10216G>A (p.Asp3406Asn)	WDFY3 (D3406N)	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 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 2438562	NM_014991.6(WDFY3):c.10114A>C (p.Ile3372Leu)	WDFY3 (I3372L)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	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 2229231	NM_014991.6(WDFY3):c.10087C>T (p.Pro3363Ser)	WDFY3 (P3363S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3062148	NM_014991.6(WDFY3):c.10055C>G (p.Ser3352Ter)	WDFY3 (S3352*)	Single nucleotide variant (nonsense)	Microcephaly 18, primary, autosomal dominant	Gnot provided
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 2662729	NM_014991.6(WDFY3):c.10016G>A (p.Ser3339Asn)	WDFY3 (S3339N)	Single nucleotide variant (missense variant)	not provided	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 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 2761802	NM_014991.6(WDFY3):c.9968G>A (p.Cys3323Tyr)	WDFY3 (C3323Y)	Single nucleotide variant (missense variant)	not provided	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 1327193	NM_014991.6(WDFY3):c.9832G>A (p.Ala3278Thr)	WDFY3 (A3278T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342386	NM_014991.6(WDFY3):c.9823+1507C>T	WDFY3	Single nucleotide variant (intron variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1679698	NM_014991.6(WDFY3):c.9754C>T (p.Pro3252Ser)	WDFY3 (P3252S)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1686376	NM_014991.6(WDFY3):c.9726+6T>C	WDFY3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1194063	NC_000004.12:g.84683944dup	WDFY3	Duplication	not provided	GUncertain significance
Select item 1325771	NM_014991.6(WDFY3):c.9726+1del	WDFY3	Deletion (splice donor variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1325765	NM_014991.6(WDFY3):c.9711_9714del (p.Asp3238fs)	WDFY3 (D3238fs)	Deletion (frameshift variant)	Neurodevelopmental delay	GLikely pathogenic
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 3043314	NM_014991.6(WDFY3):c.9663G>A (p.Ser3221=)	WDFY3	Single nucleotide variant (synonymous variant)	WDFY3-related condition	GBenign
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 2229123	NM_014991.6(WDFY3):c.9597del (p.Asn3200fs)	WDFY3 (N3200fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1711592	NM_014991.6(WDFY3):c.9590T>C (p.Ile3197Thr)	WDFY3 (I3197T)	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 735129	NM_014991.6(WDFY3):c.9546G>A (p.Gly3182=)	WDFY3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636772	NM_014991.6(WDFY3):c.9521C>T (p.Ala3174Val)	WDFY3 (A3174V)	Single nucleotide variant (missense variant)	WDFY3-related condition	GUncertain significance
Select item 1334627	NM_014991.6(WDFY3):c.9496C>T (p.Arg3166Ter)	WDFY3 (R3166*)	Single nucleotide variant (nonsense)	Microcephaly 18, primary, autosomal dominant	GLikely pathogenic
Select item 1299391	NM_014991.6(WDFY3):c.9449C>A (p.Thr3150Asn)	WDFY3 (T3150N)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
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 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 2654859	NM_014991.6(WDFY3):c.9363+6dup	WDFY3	Duplication (intron variant)	WDFY3-related condition +1 more	GBenign/Likely benign
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 1031853	NM_014991.6(WDFY3):c.9347C>A (p.Thr3116Asn)	WDFY3 (T3116N)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	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 2654860	NM_014991.6(WDFY3):c.9306G>A (p.Val3102=)	WDFY3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1695095	NM_014991.6(WDFY3):c.9304G>A (p.Val3102Met)	WDFY3 (V3102M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1801502	NM_014991.6(WDFY3):c.9302T>G (p.Val3101Gly)	WDFY3 (V3101G)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1696515	NM_014991.6(WDFY3):c.9260G>T (p.Cys3087Phe)	WDFY3 (C3087F)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	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)	not provided +1 more	GBenign
Select item 2654861	NM_014991.6(WDFY3):c.9165A>G (p.Ala3055=)	LOC126807101, WDFY3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1213742	NM_014991.6(WDFY3):c.9134C>G (p.Thr3045Ser)	LOC126807101, WDFY3 (T3045S)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
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 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 1695096	NM_014991.6(WDFY3):c.9094A>G (p.Ile3032Val)	LOC126807101, WDFY3 (I3032V)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant +2 more	GBenign/Likely benign
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 1325761	NM_014991.6(WDFY3):c.9017_9027del (p.Asp3006fs)	WDFY3 (D3006fs)	Deletion (frameshift variant)	Neurodevelopmental delay	GLikely pathogenic
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 2429937	NM_014991.6(WDFY3):c.8984C>G (p.Ser2995Cys)	WDFY3 (S2995C)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
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

<< First< Prev

Page of 6