WASHC4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 59439	GRCh38/hg38 12q23.3(chr12:104550262-106565399)x1	ALDH1L2, APPL2 +66 more	Copy number loss	See cases	GUncertain significance
Select item 3040417	NM_015275.3(WASHC4):c.-5G>C	LOC130008642, WASHC4	Single nucleotide variant (5 prime UTR variant)	WASHC4-related disorder	GLikely benign
Select item 435586	NM_015275.3(WASHC4):c.-3G>T	LOC130008642, WASHC4	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 742318	NM_015275.3(WASHC4):c.49G>A (p.Asp17Asn)	LOC130008643, WASHC4 (D17N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3189671	NM_015275.3(WASHC4):c.51C>G (p.Asp17Glu)	LOC130008643, WASHC4 (D17E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055677	NM_015275.3(WASHC4):c.112T>C (p.Tyr38His)	WASHC4 (Y38H)	Single nucleotide variant (missense variant)	WASHC4-related disorder	GBenign
Select item 714546	NM_015275.3(WASHC4):c.117C>G (p.Thr39=)	WASHC4	Single nucleotide variant (synonymous variant)	WASHC4-related disorder +1 more	GBenign/Likely benign
Select item 435570	NM_015275.3(WASHC4):c.141C>T (p.Asp47=)	WASHC4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1098606	NM_015275.3(WASHC4):c.154T>G (p.Ser52Ala)	WASHC4 (S52A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 43	GUncertain significance
Select item 3189648	NM_015275.3(WASHC4):c.158T>C (p.Ile53Thr)	WASHC4 (I53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747204	NM_015275.3(WASHC4):c.179A>G (p.Asn60Ser)	WASHC4 (N60S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 790124	NM_015275.3(WASHC4):c.201+8T>G	WASHC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3189658	NM_015275.3(WASHC4):c.284C>G (p.Ala95Gly)	WASHC4 (A95G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488957	NM_015275.3(WASHC4):c.356A>G (p.Tyr119Cys)	WASHC4 (Y119C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435571	NM_015275.3(WASHC4):c.368-3C>T	WASHC4	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 732660	NM_015275.3(WASHC4):c.384G>T (p.Met128Ile)	WASHC4 (M128I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 435572	NM_015275.3(WASHC4):c.416G>A (p.Arg139Lys)	WASHC4 (R139K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435573	NM_015275.3(WASHC4):c.432A>G (p.Leu144=)	WASHC4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1032674	NM_015275.3(WASHC4):c.443C>G (p.Ser148Cys)	WASHC4 (S148C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 43	GUncertain significance
Select item 435574	NM_015275.3(WASHC4):c.480C>T (p.Asn160=)	WASHC4	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 745199	NM_015275.3(WASHC4):c.519-7A>G	WASHC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1032675	NM_015275.3(WASHC4):c.641A>G (p.Lys214Arg)	WASHC4 (K214R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2643255	NM_015275.3(WASHC4):c.669A>G (p.Leu223=)	WASHC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3189672	NM_015275.3(WASHC4):c.674A>G (p.Lys225Arg)	WASHC4 (K225R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189673	NM_015275.3(WASHC4):c.749A>G (p.Lys250Arg)	WASHC4 (K250R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189674	NM_015275.3(WASHC4):c.769G>A (p.Asp257Asn)	WASHC4 (D257N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494124	NM_015275.3(WASHC4):c.782T>A (p.Phe261Tyr)	WASHC4 (F261Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189675	NM_015275.3(WASHC4):c.818A>G (p.Asn273Ser)	WASHC4 (N273S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189676	NM_015275.3(WASHC4):c.830C>G (p.Ser277Cys)	WASHC4 (S277C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435575	NM_015275.3(WASHC4):c.866C>T (p.Ala289Val)	WASHC4 (A289V)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 225042	NM_015275.3(WASHC4):c.878G>A (p.Arg293Gln)	WASHC4 (R293Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3189677	NM_015275.3(WASHC4):c.959G>T (p.Gly320Val)	WASHC4 (G320V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1029530	NM_015275.3(WASHC4):c.971T>C (p.Leu324Ser)	WASHC4 (L324S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 43	GUncertain significance
Select item 2593082	NM_015275.3(WASHC4):c.994A>G (p.Ile332Val)	WASHC4 (I332V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 235436	NM_015275.3(WASHC4):c.995T>C (p.Ile332Thr)	WASHC4 (I332T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3189641	NM_015275.3(WASHC4):c.1004A>C (p.Lys335Thr)	WASHC4 (K335T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189642	NM_015275.3(WASHC4):c.1008T>G (p.Phe336Leu)	WASHC4 (F336L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740027	NM_015275.3(WASHC4):c.1029T>A (p.Ile343=)	WASHC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 996910	NM_015275.3(WASHC4):c.1038+1G>T	WASHC4	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 43	GLikely pathogenic
Select item 3189643	NM_015275.3(WASHC4):c.1054C>G (p.Leu352Val)	WASHC4 (L352V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189644	NM_015275.3(WASHC4):c.1061C>A (p.Ala354Asp)	WASHC4 (A354D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189645	NM_015275.3(WASHC4):c.1165A>G (p.Thr389Ala)	WASHC4 (T389A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560032	NM_015275.3(WASHC4):c.1166C>G (p.Thr389Ser)	WASHC4 (T389S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 425017	NM_015275.3(WASHC4):c.1214dup (p.Tyr405Ter)	WASHC4 (Y405*)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 2643256	NM_015275.3(WASHC4):c.1230C>T (p.Ser410=)	WASHC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1697335	NM_015275.3(WASHC4):c.1324C>T (p.Gln442Ter)	WASHC4	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 43	GPathogenic
Select item 2481302	NM_015275.3(WASHC4):c.1348A>G (p.Ile450Val)	WASHC4 (I450V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189646	NM_015275.3(WASHC4):c.1353T>G (p.Ser451Arg)	WASHC4 (S452R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1308927	NM_015275.3(WASHC4):c.1358T>C (p.Ile453Thr)	WASHC4 (I453T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690780	NM_015275.3(WASHC4):c.1367C>T (p.Thr456Ile)	WASHC4 (T456I +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1804867	NM_015275.3(WASHC4):c.1374del (p.Met458fs)	WASHC4 (M458fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 43	GLikely pathogenic
Select item 3189647	NM_015275.3(WASHC4):c.1381T>C (p.Tyr461His)	WASHC4 (Y461H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039960	NM_015275.3(WASHC4):c.1444C>T (p.Leu482Phe)	WASHC4 (L482F +1 more)	Single nucleotide variant (missense variant)	WASHC4-related disorder	GLikely benign
Select item 720958	NM_015275.3(WASHC4):c.1461G>A (p.Glu487=)	WASHC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2529715	NM_015275.3(WASHC4):c.1502T>C (p.Val501Ala)	WASHC4 (V502A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 695112	NM_015275.3(WASHC4):c.1508A>G (p.His503Arg)	WASHC4 (H504R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 43 +1 more	GConflicting classifications of pathogenicity
Select item 730840	NM_015275.3(WASHC4):c.1560+7A>T	WASHC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2540575	NM_015275.3(WASHC4):c.1565G>A (p.Arg522Lys)	WASHC4 (R523K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748919	NM_015275.3(WASHC4):c.1575T>G (p.Ser525=)	WASHC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714182	NM_015275.3(WASHC4):c.1641A>G (p.Leu547=)	WASHC4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2690445	NM_015275.3(WASHC4):c.1643A>G (p.Asn548Ser)	WASHC4 (N548S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 43	GUncertain significance
Select item 618188	NM_015275.3(WASHC4):c.1673T>C (p.Ile558Thr)	WASHC4 (I558T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2591097	NM_015275.3(WASHC4):c.1691G>T (p.Ser564Ile)	WASHC4 (S564I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2584684	NM_015275.3(WASHC4):c.1731del (p.Pro579fs)	WASHC4 (P579fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 43	GUncertain significance
Select item 1690779	NM_015275.3(WASHC4):c.1741C>G (p.Gln581Glu)	WASHC4 (Q581E +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 435576	NM_015275.3(WASHC4):c.1742A>G (p.Gln581Arg)	WASHC4 (Q581R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714183	NM_015275.3(WASHC4):c.1776A>G (p.Glu592=)	WASHC4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3189649	NM_015275.3(WASHC4):c.1783G>A (p.Glu595Lys)	WASHC4 (E595K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713251	NM_015275.3(WASHC4):c.1795A>T (p.Thr599Ser)	WASHC4 (T599S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3189650	NM_015275.3(WASHC4):c.1832C>T (p.Ala611Val)	WASHC4 (A612V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 502310	NM_015275.3(WASHC4):c.1912C>T (p.Arg638Cys)	WASHC4 (R638C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 435584	NM_015275.3(WASHC4):c.1913G>A (p.Arg638His)	WASHC4 (R638H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189651	NM_015275.3(WASHC4):c.1933A>T (p.Met645Leu)	WASHC4 (M645L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 235553	NM_015275.3(WASHC4):c.2054G>A (p.Arg685Gln)	WASHC4 (R685Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3189652	NM_015275.3(WASHC4):c.2069C>G (p.Thr690Ser)	WASHC4 (T690S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189653	NM_015275.3(WASHC4):c.2086G>T (p.Asp696Tyr)	WASHC4 (D696Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435587	NM_015275.3(WASHC4):c.2132del (p.Phe711fs)	WASHC4 (F712fs +1 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1013013	NM_015275.3(WASHC4):c.2130T>C (p.Phe710=)	WASHC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1878289	NM_015275.3(WASHC4):c.2133dup (p.Ser712fs)	WASHC4 (S712fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal recessive 43	GLikely pathogenic
Select item 3189654	NM_015275.3(WASHC4):c.2150G>A (p.Arg717Gln)	WASHC4 (R717Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435588	NM_015275.3(WASHC4):c.2159A>G (p.Asn720Ser)	WASHC4 (N720S +1 more)	Single nucleotide variant (missense variant)	WASHC4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 435577	NM_015275.3(WASHC4):c.2162G>A (p.Arg721His)	WASHC4 (R721H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 435578	NM_015275.3(WASHC4):c.2176C>T (p.Arg726Trp)	WASHC4 (R726W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770413	NM_015275.3(WASHC4):c.2180-5G>T	WASHC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 779442	NM_015275.3(WASHC4):c.2180-4G>T	WASHC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2643257	NM_015275.3(WASHC4):c.2180C>T (p.Ala727Val)	WASHC4 (A727V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2559251	NM_015275.3(WASHC4):c.2207C>T (p.Thr736Ile)	WASHC4 (T737I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189655	NM_015275.3(WASHC4):c.2230G>T (p.Ala744Ser)	WASHC4 (A744S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1702799	NM_015275.3(WASHC4):c.2236C>T (p.His746Tyr)	WASHC4 (H746Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3189656	NM_015275.3(WASHC4):c.2282G>A (p.Arg761His)	WASHC4 (R761H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532103	NM_015275.3(WASHC4):c.2389C>T (p.Leu797Phe)	WASHC4 (L798F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752067	NM_015275.3(WASHC4):c.2410-7A>G	WASHC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 787929	NM_015275.3(WASHC4):c.2415T>C (p.Phe805=)	WASHC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1098607	NM_015275.3(WASHC4):c.2423G>A (p.Arg808Gln)	WASHC4 (R808Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 43 +1 more	GUncertain significance
Select item 435579	NM_015275.3(WASHC4):c.2465A>G (p.His822Arg)	WASHC4 (H822R +1 more)	Single nucleotide variant (missense variant)	WASHC4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 739619	NM_015275.3(WASHC4):c.2511A>G (p.Thr837=)	WASHC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786423	NM_015275.3(WASHC4):c.2565A>G (p.Gln855=)	WASHC4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3189657	NM_015275.3(WASHC4):c.2608A>G (p.Ile870Val)	WASHC4 (I870V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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