Related gene-specific medical variations for Gene (Select 23001) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3591280	NM_014991.6(WDFY3):c.9841G>A (p.Glu3281Lys)	WDFY3 (E3281K)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 3469118	NM_014991.6(WDFY3):c.2506A>G (p.Thr836Ala)	WDFY3, WDFY3-AS1 (T836A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3469096	NM_014991.6(WDFY3):c.2461G>T (p.Val821Phe)	WDFY3, WDFY3-AS1 (V821F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3469095	NM_014991.6(WDFY3):c.2833C>T (p.Arg945Cys)	WDFY3, WDFY3-AS1 (R945C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3393377	NM_014991.6(WDFY3):c.9156G>A (p.Trp3052Ter)	LOC126807101, WDFY3 (W3052*)	Single nucleotide variant (nonsense)	Macrocephaly-autism syndrome	GLikely pathogenic
Select item 3378379	NM_014991.6(WDFY3):c.2626C>G (p.Leu876Val)	WDFY3, WDFY3-AS1 (L876V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378138	NM_014991.6(WDFY3):c.2476A>C (p.Asn826His)	WDFY3, WDFY3-AS1 (N826H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376812	NM_014991.6(WDFY3):c.2647C>T (p.Gln883Ter)	WDFY3, WDFY3-AS1 (Q883*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3373504	NM_014991.6(WDFY3):c.2327C>T (p.Ala776Val)	WDFY3, WDFY3-AS1 (A776V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372386	NM_014991.6(WDFY3):c.2343C>A (p.Asp781Glu)	WDFY3, WDFY3-AS1 (D781E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371713	NM_014991.6(WDFY3):c.2903C>T (p.Pro968Leu)	WDFY3, WDFY3-AS1 (P968L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369613	NM_014991.6(WDFY3):c.2707C>T (p.Arg903Ter)	WDFY3, WDFY3-AS1 (R903*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3368615	NM_014991.6(WDFY3):c.2813T>C (p.Met938Thr)	WDFY3, WDFY3-AS1 (M938T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3364767	NM_014991.6(WDFY3):c.2230T>C (p.Phe744Leu)	WDFY3, WDFY3-AS1 (F744L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363986	NM_014991.6(WDFY3):c.2098C>G (p.Pro700Ala)	WDFY3, WDFY3-AS1 (P700A)	Single nucleotide variant (non-coding transcript variant +1 more)	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 3362230	NM_014991.6(WDFY3):c.6893A>G (p.Asn2298Ser)	WDFY3 (N2298S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362183	NM_014991.6(WDFY3):c.6037G>T (p.Val2013Leu)	WDFY3 (V2013L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362181	NM_014991.6(WDFY3):c.7651A>G (p.Ser2551Gly)	WDFY3 (S2551G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362180	NM_014991.6(WDFY3):c.2013T>G (p.Asn671Lys)	WDFY3 (N671K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3361940	NM_014991.6(WDFY3):c.1931T>A (p.Val644Asp)	WDFY3 (V644D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3361899	NM_014991.6(WDFY3):c.7220C>G (p.Ala2407Gly)	WDFY3 (A2407G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361853	NM_014991.6(WDFY3):c.2237G>A (p.Arg746Lys)	WDFY3 (R746K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361763	NM_014991.6(WDFY3):c.533C>A (p.Pro178His)	WDFY3 (P178H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361578	NM_014991.6(WDFY3):c.2222C>T (p.Thr741Ile)	WDFY3 (T741I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361573	NM_014991.6(WDFY3):c.5170A>G (p.Lys1724Glu)	WDFY3 (K1724E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361566	NM_014991.6(WDFY3):c.3406T>C (p.Tyr1136His)	WDFY3 (Y1136H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361265	NM_014991.6(WDFY3):c.2110C>G (p.His704Asp)	WDFY3 (H704D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3361250	NM_014991.6(WDFY3):c.7438A>G (p.Lys2480Glu)	WDFY3 (K2480E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361224	NM_014991.6(WDFY3):c.1813G>A (p.Asp605Asn)	WDFY3 (D605N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361151	NM_014991.6(WDFY3):c.2866G>A (p.Asp956Asn)	WDFY3 (D956N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361100	NM_014991.6(WDFY3):c.9080G>C (p.Cys3027Ser)	WDFY3 (C3027S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360215	NM_014991.6(WDFY3):c.10247T>C (p.Leu3416Ser)	WDFY3 (L3416S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360065	NM_014991.6(WDFY3):c.3622A>G (p.Ser1208Gly)	WDFY3 (S1208G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359702	NM_014991.6(WDFY3):c.5406G>A (p.Arg1802=)	WDFY3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3359548	NM_014991.6(WDFY3):c.10565G>A (p.Gly3522Glu)	WDFY3 (G3522E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359505	NM_014991.6(WDFY3):c.4822A>G (p.Ile1608Val)	WDFY3 (I1608V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359412	NM_014991.6(WDFY3):c.6339A>G (p.Gln2113=)	WDFY3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3359378	NM_014991.6(WDFY3):c.8930G>T (p.Arg2977Leu)	WDFY3 (R2977L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359336	NM_014991.6(WDFY3):c.9431G>C (p.Ser3144Thr)	WDFY3 (S3144T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343000	NM_014991.6(WDFY3):c.2565G>A (p.Met855Ile)	WDFY3, WDFY3-AS1 (M855I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3342898	NM_014991.6(WDFY3):c.1951T>G (p.Phe651Val)	WDFY3, WDFY3-AS1 (F651V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3332653	NM_014991.6(WDFY3):c.2629G>C (p.Ala877Pro)	WDFY3, WDFY3-AS1 (A877P)	Single nucleotide variant (missense variant)	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 3332645	NM_014991.6(WDFY3):c.2001T>G (p.Cys667Trp)	WDFY3, WDFY3-AS1 (C667W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3332644	NM_014991.6(WDFY3):c.2000G>C (p.Cys667Ser)	WDFY3, WDFY3-AS1 (C667S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3332643	NM_014991.6(WDFY3):c.1996A>T (p.Ser666Cys)	WDFY3, WDFY3-AS1 (S666C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3332640	NM_014991.6(WDFY3):c.2498A>G (p.His833Arg)	WDFY3, WDFY3-AS1 (H833R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3258101	NM_014991.6(WDFY3):c.9361C>T (p.Gln3121Ter)	WDFY3 (Q3121*)	Single nucleotide variant (nonsense)	Syndromic intellectual disability	GLikely pathogenic
Select item 3250651	NM_014991.6(WDFY3):c.1888-5T>C	WDFY3, WDFY3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3236646	NM_014991.6(WDFY3):c.7297_7298insC (p.Val2433fs)	WDFY3 (V2433fs)	Insertion (frameshift variant)	Microcephaly 18, primary, autosomal dominant	GPathogenic
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 3189729	NM_014991.6(WDFY3):c.2883del (p.Lys961fs)	WDFY3, WDFY3-AS1 (K961fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3189728	NM_014991.6(WDFY3):c.2196C>A (p.Ser732Arg)	WDFY3, WDFY3-AS1 (S732R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189727	NM_014991.6(WDFY3):c.2080G>A (p.Ala694Thr)	WDFY3, WDFY3-AS1 (A694T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3026312	NM_014991.6(WDFY3):c.2860G>T (p.Ala954Ser)	WDFY3, WDFY3-AS1 (A954S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712232	NM_014991.6(WDFY3):c.2609A>T (p.His870Leu)	WDFY3, WDFY3-AS1 (H870L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2690487	NM_014991.6(WDFY3):c.2282C>T (p.Thr761Met)	WDFY3, WDFY3-AS1 (T761M)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GLikely benign
Select item 2690447	NM_014991.6(WDFY3):c.6208G>T (p.Asp2070Tyr)	WDFY3 (D2070Y)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 2685117	GRCh37/hg19 4q21.23(chr4:85683912-85832817)x1	WDFY3	Copy number loss	not provided	GUncertain significance
Select item 2672154	NM_014991.6(WDFY3):c.8901+1G>A	WDFY3	Single nucleotide variant (splice donor variant)	Microcephaly 18, primary, autosomal dominant	GLikely pathogenic
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 2654881	NM_014991.6(WDFY3):c.2309T>A (p.Ile770Asn)	WDFY3, WDFY3-AS1 (I770N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654880	NM_014991.6(WDFY3):c.2310T>A (p.Ile770=)	WDFY3, WDFY3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654879	NM_014991.6(WDFY3):c.2311T>A (p.Tyr771Asn)	WDFY3-AS1, WDFY3 (Y771N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654878	NM_014991.6(WDFY3):c.2455C>T (p.Pro819Ser)	WDFY3, WDFY3-AS1 (P819S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2654877	NM_014991.6(WDFY3):c.2484C>T (p.Ala828=)	WDFY3, WDFY3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654876	NM_014991.6(WDFY3):c.2710C>T (p.Leu904=)	WDFY3, WDFY3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654875	NM_014991.6(WDFY3):c.3007C>G (p.Arg1003Gly)	WDFY3, WDFY3-AS1 (R1003G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 2632680	NM_014991.6(WDFY3):c.2392C>G (p.Pro798Ala)	WDFY3, WDFY3-AS1 (P798A)	Single nucleotide variant (missense variant)	WDFY3-related disorder	GUncertain significance
Select item 2576827	NM_014991.6(WDFY3):c.2764C>T (p.Pro922Ser)	WDFY3, WDFY3-AS1 (P922S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576668	NM_014991.6(WDFY3):c.2966G>T (p.Gly989Val)	WDFY3, WDFY3-AS1 (G989V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2574830	NM_014991.6(WDFY3):c.1919G>C (p.Arg640Pro)	WDFY3, WDFY3-AS1 (R640P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	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 2549062	NM_014991.6(WDFY3):c.2747A>G (p.Asp916Gly)	WDFY3, WDFY3-AS1 (D916G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541240	NM_014991.6(WDFY3):c.2410C>G (p.Pro804Ala)	WDFY3, WDFY3-AS1 (P804A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518529	NM_014991.6(WDFY3):c.2287C>T (p.Arg763Trp)	WDFY3, WDFY3-AS1 (R763W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2501392	NM_014991.6(WDFY3):c.2335T>C (p.Ser779Pro)	WDFY3, WDFY3-AS1 (S779P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500403	NM_014991.6(WDFY3):c.2704G>A (p.Ala902Thr)	WDFY3, WDFY3-AS1 (A902T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498167	NM_014991.6(WDFY3):c.2345+1G>A	WDFY3, WDFY3-AS1	Single nucleotide variant (splice donor variant)	See cases	GPathogenic
Select item 2497904	NM_014991.6(WDFY3):c.2015G>T (p.Gly672Val)	WDFY3, WDFY3-AS1 (G672V)	Single nucleotide variant (non-coding transcript variant +1 more)	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 2497719	NM_014991.6(WDFY3):c.7917C>A (p.Tyr2639Ter)	WDFY3 (Y2639*)	Single nucleotide variant (nonsense)	Neurodevelopmental delay	GPathogenic
Select item 2469109	NM_014991.6(WDFY3):c.2395T>G (p.Ser799Ala)	WDFY3, WDFY3-AS1 (S799A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446065	NM_014991.6(WDFY3):c.2143T>G (p.Leu715Val)	WDFY3, WDFY3-AS1 (L715V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2444667	NM_014991.6(WDFY3):c.2936-3C>T	WDFY3, WDFY3-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2442018	NM_014991.6(WDFY3):c.5825C>T (p.Ser1942Leu)	WDFY3 (S1942L)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GLikely pathogenic
Select item 2438566	NM_014991.6(WDFY3):c.4739G>A (p.Ser1580Asn)	WDFY3 (S1580N)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 2438565	NM_014991.6(WDFY3):c.1792C>T (p.Leu598Phe)	WDFY3 (L598F)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 2438564	NM_014991.6(WDFY3):c.8033T>G (p.Val2678Gly)	WDFY3 (V2678G)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 2438561	NM_014991.6(WDFY3):c.7095C>A (p.His2365Gln)	WDFY3 (H2365Q)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 2434617	NM_014991.6(WDFY3):c.8693del (p.Leu2898fs)	WDFY3 (L2898fs)	Deletion (frameshift variant)	Microcephaly 18, primary, autosomal dominant	GLikely pathogenic
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 2412988	NM_014991.6(WDFY3):c.2322A>C (p.Lys774Asn)	WDFY3-AS1, WDFY3 (K774N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2380412	NM_014991.6(WDFY3):c.1898C>T (p.Ser633Leu)	WDFY3, WDFY3-AS1 (S633L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314854	NM_014991.6(WDFY3):c.2288G>A (p.Arg763Gln)	WDFY3, WDFY3-AS1 (R763Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292314	NM_014991.6(WDFY3):c.2639A>G (p.Asn880Ser)	WDFY3, WDFY3-AS1 (N880S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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