CWC27[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 152782	GRCh38/hg38 5q12.3(chr5:64636054-64813311)x3	CWC27, LOC121725205 +5 more	Copy number gain	See cases	GUncertain significance
Select item 1255435	NM_005869.4(CWC27):c.-31G>A	CWC27, LOC123493324	Single nucleotide variant (5 prime UTR variant)	Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome	GBenign
Select item 1403669	NM_005869.4(CWC27):c.10A>G (p.Ile4Val)	CWC27, LOC123493324 (I4V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1441533	NM_005869.4(CWC27):c.17_20del (p.Ile6fs)	CWC27, LOC123493324 (I6fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 970063	NM_005869.4(CWC27):c.16A>G (p.Ile6Val)	CWC27, LOC123493324 (I6V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1056737	NM_005869.4(CWC27):c.20A>C (p.Gln7Pro)	CWC27, LOC123493324 (Q7P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1489931	NM_005869.4(CWC27):c.32C>T (p.Thr11Met)	LOC123493324, CWC27 (T11M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013633	NM_005869.4(CWC27):c.33G>A (p.Thr11=)	CWC27, LOC123493324	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103908	NM_005869.4(CWC27):c.42+1G>A	CWC27, LOC123493324	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2061233	NM_005869.4(CWC27):c.42+8C>T	CWC27, LOC123493324	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1102934	NM_005869.4(CWC27):c.42+16A>G	CWC27, LOC123493324	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1999483	NM_005869.4(CWC27):c.43-18G>T	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1053548	NM_005869.4(CWC27):c.43G>A (p.Val15Ile)	CWC27 (V15I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 749565	NM_005869.4(CWC27):c.49T>C (p.Leu17=)	CWC27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 854246	NM_005869.4(CWC27):c.53A>G (p.Lys18Arg)	CWC27 (K18R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2150347	NM_005869.4(CWC27):c.56C>G (p.Thr19Ser)	CWC27 (T19S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978499	NM_005869.4(CWC27):c.60A>C (p.Thr20=)	CWC27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1007615	NM_005869.4(CWC27):c.71T>C (p.Ile24Thr)	CWC27 (I24T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1444829	NM_005869.4(CWC27):c.76A>C (p.Ile26Leu)	CWC27 (I26L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 843649	NM_005869.4(CWC27):c.77_78del (p.Ile26fs)	CWC27 (I26fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2607427	NM_005869.4(CWC27):c.86G>C (p.Trp29Ser)	CWC27 (W29S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1454227	NM_005869.4(CWC27):c.94G>T (p.Glu32Ter)	CWC27 (E32*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1643820	NM_005869.4(CWC27):c.99T>C (p.Ala33=)	CWC27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1360521	NM_005869.4(CWC27):c.100C>T (p.Pro34Ser)	CWC27 (P34S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1059307	NM_005869.4(CWC27):c.100C>A (p.Pro34Thr)	CWC27 (P34T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816802	NM_005869.4(CWC27):c.120dup (p.Ile41fs)	CWC27 (I41fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 967779	NM_005869.4(CWC27):c.121A>G (p.Ile41Val)	CWC27 (I41V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 843494	NM_005869.4(CWC27):c.121A>C (p.Ile41Leu)	CWC27 (I41L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1161263	NM_005869.4(CWC27):c.129T>C (p.Leu43=)	CWC27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1513461	NM_005869.4(CWC27):c.139+3_139+4insAATTATGA	CWC27	Insertion (intron variant)	not provided	GUncertain significance
Select item 1169277	NM_005869.4(CWC27):c.139+3_139+4insAATTATGAC	CWC27	Insertion (intron variant)	not provided	GBenign
Select item 1666536	NM_005869.4(CWC27):c.139+13T>C	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663813	NM_005869.4(CWC27):c.139+18C>A	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640436	NM_005869.4(CWC27):c.140-4dup	CWC27	Duplication (intron variant)	not provided	GBenign
Select item 1157093	NM_005869.4(CWC27):c.140-13A>T	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1096899	NM_005869.4(CWC27):c.140-13del	CWC27	Deletion (intron variant)	not provided	GLikely benign
Select item 1165786	NM_005869.4(CWC27):c.140-4del	CWC27	Deletion (intron variant)	CWC27-related disorder +1 more	GBenign/Likely benign
Select item 938876	NM_005869.4(CWC27):c.140C>A (p.Ala47Asp)	CWC27 (A47D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1010981	NM_005869.4(CWC27):c.143A>G (p.Tyr48Cys)	CWC27 (Y48C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1053460	NM_005869.4(CWC27):c.151A>C (p.Asn51His)	CWC27 (N51H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1382354	NM_005869.4(CWC27):c.175C>T (p.Pro59Ser)	CWC27 (P59S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972073	NM_005869.4(CWC27):c.189C>G (p.Val63=)	CWC27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1515893	NM_005869.4(CWC27):c.195C>T (p.Gly65=)	CWC27	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1408194	NM_005869.4(CWC27):c.196G>A (p.Gly66Arg)	CWC27 (G66R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1016448	NM_005869.4(CWC27):c.202C>T (p.Pro68Ser)	CWC27 (P68S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814806	NM_005869.4(CWC27):c.203C>T (p.Pro68Leu)	CWC27 (P68L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931701	NM_005869.4(CWC27):c.207T>A (p.Thr69=)	CWC27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1504462	NM_005869.4(CWC27):c.212C>A (p.Thr71Lys)	CWC27 (T71K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2304730	NM_005869.4(CWC27):c.219T>G (p.Ser73Arg)	CWC27 (S73R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1432599	NM_005869.4(CWC27):c.225dup (p.Glu76fs)	CWC27 (E76fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3270374	NM_005869.4(CWC27):c.232A>G (p.Ile78Val)	CWC27 (I78V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1496721	NM_005869.4(CWC27):c.235T>A (p.Tyr79Asn)	CWC27 (Y79N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1009083	NM_005869.4(CWC27):c.236A>G (p.Tyr79Cys)	CWC27 (Y79C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1412369	NM_005869.4(CWC27):c.238G>A (p.Gly80Arg)	CWC27 (G80R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164776	NM_005869.4(CWC27):c.242C>T (p.Ala81Val)	CWC27 (A81V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1082716	NM_005869.4(CWC27):c.243G>A (p.Ala81=)	CWC27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1461795	NM_005869.4(CWC27):c.250A>G (p.Lys84Glu)	CWC27 (K84E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963690	NM_005869.4(CWC27):c.252+1G>A	CWC27	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1063203	NM_005869.4(CWC27):c.252+4del	CWC27	Deletion (intron variant)	not provided	GUncertain significance
Select item 1141082	NM_005869.4(CWC27):c.252+9G>A	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1533508	NM_005869.4(CWC27):c.253-18A>C	CWC27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1659149	NM_005869.4(CWC27):c.253-8C>T	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1050902	NM_005869.4(CWC27):c.253-8_253-7insTAAATTCACTAA	CWC27	Insertion (intron variant)	not provided	GUncertain significance
Select item 2068425	NM_005869.4(CWC27):c.255T>A (p.Asp85Glu)	CWC27 (D85E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1349899	NM_005869.4(CWC27):c.265T>C (p.Ser89Pro)	CWC27 (S89P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2420253	NM_005869.4(CWC27):c.268C>T (p.Arg90Trp)	CWC27 (R90W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 936323	NM_005869.4(CWC27):c.274C>T (p.Arg92Cys)	CWC27 (R92C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 936383	NM_005869.4(CWC27):c.275G>A (p.Arg92His)	CWC27 (R92H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1989468	NM_005869.4(CWC27):c.281A>C (p.Asn94Thr)	CWC27 (N94T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431876	NM_005869.4(CWC27):c.284G>A (p.Arg95Gln)	CWC27 (R95Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106168	NM_005869.4(CWC27):c.289G>A (p.Gly97Arg)	CWC27 (G97R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1477459	NM_005869.4(CWC27):c.299C>T (p.Ala100Val)	CWC27 (A100V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066826	NM_005869.4(CWC27):c.301A>G (p.Met101Val)	CWC27 (M101V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 970622	NM_005869.4(CWC27):c.304G>A (p.Ala102Thr)	CWC27 (A102T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881903	NM_005869.4(CWC27):c.309T>C (p.Asn103=)	CWC27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769599	NM_005869.4(CWC27):c.326del (p.Asn109fs)	CWC27 (N109fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1488441	NM_005869.4(CWC27):c.326A>G (p.Asn109Ser)	CWC27 (N109S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899527	NM_005869.4(CWC27):c.327T>C (p.Asn109=)	CWC27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 956541	NM_005869.4(CWC27):c.328G>A (p.Gly110Ser)	CWC27 (G110S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008533	NM_005869.4(CWC27):c.330C>T (p.Gly110=)	CWC27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1041057	NM_005869.4(CWC27):c.353G>T (p.Gly118Val)	CWC27 (G118V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2971458	NM_005869.4(CWC27):c.355C>T (p.Arg119Ter)	CWC27 (R119*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1001484	NM_005869.4(CWC27):c.355C>G (p.Arg119Gly)	CWC27 (R119G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2493394	NM_005869.4(CWC27):c.356G>A (p.Arg119Gln)	CWC27 (R119Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1411640	NM_005869.4(CWC27):c.372C>G (p.Asn124Lys)	CWC27 (N124K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717621	NM_005869.4(CWC27):c.377A>G (p.Lys126Arg)	CWC27 (K126R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1053452	NM_005869.4(CWC27):c.396+5G>T	CWC27	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1956276	NM_005869.4(CWC27):c.396+6T>C	CWC27	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2990043	NM_005869.4(CWC27):c.396+10C>G	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1590081	NM_005869.4(CWC27):c.396+10C>T	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881636	NM_005869.4(CWC27):c.396+11A>G	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820452	NM_005869.4(CWC27):c.396+19T>C	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967912	NM_005869.4(CWC27):c.397-16A>G	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998051	NM_005869.4(CWC27):c.397-12T>C	CWC27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1693112	NM_005869.4(CWC27):c.397-1G>A	CWC27	Single nucleotide variant (splice acceptor variant)	Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome	GLikely pathogenic
Select item 1363115	NM_005869.4(CWC27):c.405G>T (p.Gly135=)	CWC27	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1974708	NM_005869.4(CWC27):c.413T>C (p.Val138Ala)	CWC27 (V138A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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