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 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	GUncertain significance
Select item 2690487	NM_014991.6(WDFY3):c.2282C>T (p.Thr761Met)	WDFY3, WDFY3-AS1 (T761M)	Single nucleotide variant (missense variant)	WDFY3-related disorder +1 more	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, WDFY3-AS1 (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-AS1, WDFY3	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 2438563	NM_014991.6(WDFY3):c.3172C>G (p.Leu1058Val)	WDFY3 (L1058V)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	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 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
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 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 2280654	NM_014991.6(WDFY3):c.2393C>T (p.Pro798Leu)	WDFY3, WDFY3-AS1 (P798L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2249424	NM_014991.6(WDFY3):c.2455C>A (p.Pro819Thr)	WDFY3, WDFY3-AS1 (P819T)	Single nucleotide variant (missense variant)	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 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 1809979	NM_014991.6(WDFY3):c.2725A>T (p.Ser909Cys)	WDFY3, WDFY3-AS1 (S909C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806507	NM_014991.6(WDFY3):c.2099C>T (p.Pro700Leu)	WDFY3, WDFY3-AS1 (P700L)	Single nucleotide variant (non-coding transcript variant +1 more)	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 1710413	NM_014991.6(WDFY3):c.2429+5T>G	WDFY3, WDFY3-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1709645	NM_014991.6(WDFY3):c.2785C>T (p.Arg929Ter)	WDFY3, WDFY3-AS1 (R929*)	Single nucleotide variant (nonsense)	Microcephaly 18, primary, autosomal dominant	GLikely pathogenic
Select item 1702794	NM_014991.6(WDFY3):c.2477A>G (p.Asn826Ser)	WDFY3-AS1, WDFY3 (N826S)	Single nucleotide variant (missense variant)	not provided	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 1695096	NM_014991.6(WDFY3):c.9094A>G (p.Ile3032Val)	LOC126807101, WDFY3 (I3032V)	Single nucleotide variant (missense variant)	WDFY3-related disorder +2 more	GBenign/Likely benign
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 1676470	NM_014991.6(WDFY3):c.4136C>G (p.Ser1379Cys)	WDFY3 (S1379C)	Single nucleotide variant	not provided	GUncertain significance
Select item 1676439	NM_014991.6(WDFY3):c.9820A>G (p.Ile3274Val)	WDFY3 (I3274V)	Single nucleotide variant	not provided	GUncertain significance
Select item 1342578	NM_014991.6(WDFY3):c.853G>A (p.Gly285Arg)	WDFY3 (G285R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342397	NM_014991.6(WDFY3):c.4559T>A (p.Phe1520Tyr)	WDFY3 (F1520Y)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	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 1341159	GRCh37/hg19 4q21.23(chr4:85592482-85651685)x1	WDFY3	Copy number loss	not provided	GPathogenic
Select item 1329840	NM_014991.6(WDFY3):c.2171G>C (p.Cys724Ser)	WDFY3, WDFY3-AS1 (C724S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1325745	NM_014991.6(WDFY3):c.1990del (p.Ser664fs)	WDFY3, WDFY3-AS1 (S664fs)	Deletion (non-coding transcript variant +1 more)	Neurodevelopmental delay	GLikely pathogenic
Select item 1325598	NM_014991.6(WDFY3):c.6370A>G (p.Thr2124Ala)	WDFY3 (T2124A)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1325516	NM_014991.6(WDFY3):c.4828A>C (p.Asn1610His)	WDFY3 (N1610H)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 1311937	NM_014991.6(WDFY3):c.2128A>T (p.Ile710Phe)	WDFY3, WDFY3-AS1 (I710F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1306977	NM_014991.6(WDFY3):c.2689G>A (p.Glu897Lys)	WDFY3, WDFY3-AS1 (E897K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304785	NM_014991.6(WDFY3):c.2222_2225del (p.Thr741fs)	WDFY3, WDFY3-AS1 (T741fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1287866	NM_014991.6(WDFY3):c.2608-145C>T	WDFY3-AS1, WDFY3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283932	NM_014991.6(WDFY3):c.2345+126A>G	WDFY3, WDFY3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277957	NM_014991.6(WDFY3):c.1888-59dup	WDFY3, WDFY3-AS1	Duplication (non-coding transcript variant +1 more)	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 1245012	NM_014991.6(WDFY3):c.9204+209C>T	LOC126807101, WDFY3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233127	NM_014991.6(WDFY3):c.2345+170dup	WDFY3, WDFY3-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1226658	NM_014991.6(WDFY3):c.2935+201T>A	WDFY3, WDFY3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225954	NM_014991.6(WDFY3):c.1888-45del	WDFY3, WDFY3-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
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 1213732	NM_014991.6(WDFY3):c.6317C>G (p.Ala2106Gly)	WDFY3 (A2106G)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	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 1174114	NM_014991.6(WDFY3):c.4063-1G>T	WDFY3	Single nucleotide variant (splice acceptor variant)	Microcephaly 18, primary, autosomal dominant	GPathogenic
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 996675	NM_014991.6(WDFY3):c.2932A>T (p.Arg978Ter)	WDFY3, WDFY3-AS1 (R978*)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GLikely pathogenic
Select item 985990	NM_014991.6(WDFY3):c.2158C>T (p.Arg720Ter)	WDFY3, WDFY3-AS1 (R720*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 985178	NM_014991.6(WDFY3):c.1900G>C (p.Val634Leu)	WDFY3, WDFY3-AS1 (V634L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 978108	NM_014991.6(WDFY3):c.5402G>A (p.Cys1801Tyr)	WDFY3 (C1801Y)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 977388	NM_014991.6(WDFY3):c.2347C>T (p.Arg783Cys)	WDFY3, WDFY3-AS1 (R783C)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GUncertain significance
Select item 975778	NM_014991.6(WDFY3):c.1670T>C (p.Leu557Pro)	WDFY3 (L557P)	Single nucleotide variant (missense variant)	Microcephaly 18, primary, autosomal dominant	GLikely pathogenic
Select item 975777	NM_014991.6(WDFY3):c.2459_2460del (p.Pro820fs)	WDFY3, WDFY3-AS1 (P820fs)	Deletion (frameshift variant)	Microcephaly 18, primary, autosomal dominant	GPathogenic
Select item 814579	GRCh37/hg19 4q21.23(chr4:85839771-86116078)x3	WDFY3	Copy number gain	not provided	GUncertain significance
Select item 813618	NM_014991.6(WDFY3):c.1483A>G (p.Ile495Val)	WDFY3 (I495V)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance

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