ClinVar for Gene (Select 152137) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379524	NM_178335.3(CCDC50):c.427A>C (p.Ser143Arg)	CCDC50 (S143R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375356	NM_178335.3(CCDC50):c.330+18C>T	CCDC50	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3370206	NM_178335.3(CCDC50):c.56G>A (p.Arg19Gln)	CCDC50 (R19Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368042	NM_178335.3(CCDC50):c.1271A>C (p.Lys424Thr)	CCDC50 (K248T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367698	NM_178335.3(CCDC50):c.765G>T (p.Glu255Asp)	CCDC50 (E255D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367403	NM_178335.3(CCDC50):c.1159G>A (p.Ala387Thr)	CCDC50 (A211T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3264220	NM_178335.3(CCDC50):c.1087C>G (p.Leu363Val)	CCDC50 (L187V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264219	NM_178335.3(CCDC50):c.1397G>A (p.Arg466Gln)	CCDC50 (R466Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251432	NM_178335.3(CCDC50):c.566A>G (p.Glu189Gly)	CCDC50 (E189G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3251201	NM_178335.3(CCDC50):c.1051G>A (p.Asp351Asn)	CCDC50 (D175N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247003	NC_000003.11:g.(?_189357602)_(192126012_?)del	CCDC50, CLDN1 +10 more	Deletion	not provided	GPathogenic
Select item 3234700	NM_178335.3(CCDC50):c.735G>A (p.Val245=)	CCDC50	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3139184	NM_178335.3(CCDC50):c.776A>T (p.Asn259Ile)	CCDC50 (N259I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139182	NM_178335.3(CCDC50):c.743G>A (p.Ser248Asn)	CCDC50 (S248N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139181	NM_178335.3(CCDC50):c.629G>T (p.Gly210Val)	CCDC50 (G210V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139180	NM_178335.3(CCDC50):c.620C>T (p.Ser207Phe)	CCDC50 (S207F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067443	NM_178335.3(CCDC50):c.973G>A (p.Ala325Thr)	CCDC50 (A325T)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 3062704	GRCh37/hg19 3q28-29(chr3:190400378-192919373)x1	CCDC50, FGF12 +5 more	Copy number loss	not specified	GUncertain significance
Select item 3050168	NM_178335.3(CCDC50):c.1143C>T (p.Ile381=)	CCDC50	Single nucleotide variant (synonymous variant)	CCDC50-related disorder	GLikely benign
Select item 3038329	NM_178335.3(CCDC50):c.977-7_977-5dup	CCDC50	Duplication (intron variant)	CCDC50-related disorder	GBenign
Select item 3032560	NM_178335.3(CCDC50):c.448+5C>G	CCDC50	Single nucleotide variant (intron variant)	CCDC50-related disorder	GLikely benign
Select item 3031138	NM_178335.3(CCDC50):c.788G>C (p.Arg263Pro)	CCDC50 (R263P)	Single nucleotide variant (missense variant +1 more)	CCDC50-related disorder	GLikely benign
Select item 3030599	NM_178335.3(CCDC50):c.302G>A (p.Arg101Lys)	CCDC50 (R101K)	Single nucleotide variant (missense variant)	CCDC50-related disorder	GUncertain significance
Select item 3027427	NM_178335.3(CCDC50):c.1105G>T (p.Asp369Tyr)	CCDC50 (D193Y +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 44	GUncertain significance
Select item 3022480	NM_178335.3(CCDC50):c.659dup (p.Asn220fs)	CCDC50 (N220fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3021697	NM_178335.3(CCDC50):c.1322+19A>G	CCDC50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015759	NM_178335.3(CCDC50):c.977-10_977-9insG	CCDC50	Insertion (intron variant)	not provided	GLikely benign
Select item 3005877	NM_178335.3(CCDC50):c.925A>G (p.Arg309Gly)	CCDC50 (R309G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3005401	NM_178335.3(CCDC50):c.49+6G>T	CCDC50, UTS2B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2982588	NM_178335.3(CCDC50):c.655_656dup (p.Asn219fs)	CCDC50 (N219fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2980245	NM_178335.3(CCDC50):c.976+19G>T	CCDC50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964551	NM_178335.3(CCDC50):c.643A>G (p.Asn215Asp)	CCDC50 (N215D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2956294	NM_178335.3(CCDC50):c.1137+11G>T	CCDC50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893720	NM_178335.3(CCDC50):c.1321C>T (p.Arg441Trp)	CCDC50 (R265W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844076	NM_178335.3(CCDC50):c.1368T>G (p.Thr456=)	CCDC50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790825	NM_178335.3(CCDC50):c.977-19T>C	CCDC50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754752	NM_178335.3(CCDC50):c.84C>T (p.Thr28=)	CCDC50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752172	NM_178335.3(CCDC50):c.895G>A (p.Gly299Ser)	CCDC50 (G299S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2737513	NM_178335.3(CCDC50):c.1261G>A (p.Ala421Thr)	CCDC50 (A245T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2654354	NM_178335.3(CCDC50):c.698C>T (p.Pro233Leu)	CCDC50 (P233L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2632635	NM_178335.3(CCDC50):c.1234G>A (p.Glu412Lys)	CCDC50 (E236K +1 more)	Single nucleotide variant (missense variant)	CCDC50-related disorder	GUncertain significance
Select item 2632482	NM_178335.3(CCDC50):c.171G>C (p.Gln57His)	CCDC50 (Q57H)	Single nucleotide variant (missense variant)	CCDC50-related disorder	GUncertain significance
Select item 2623304	NM_178335.3(CCDC50):c.680G>A (p.Arg227Gln)	CCDC50 (R227Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2606405	NM_178335.3(CCDC50):c.1231C>A (p.Pro411Thr)	CCDC50 (P235T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573889	NM_178335.3(CCDC50):c.7_14del	CCDC50	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 2539538	NM_178335.3(CCDC50):c.1358C>T (p.Ala453Val)	CCDC50 (A453V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528770	NM_178335.3(CCDC50):c.83C>T (p.Thr28Ile)	CCDC50 (T28I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524281	NM_178335.3(CCDC50):c.666G>T (p.Gln222His)	CCDC50 (Q222H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523839	NM_178335.3(CCDC50):c.1156A>G (p.Met386Val)	CCDC50 (M210V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506746	NM_178335.3(CCDC50):c.574G>C (p.Glu192Gln)	CCDC50 (E192Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2493762	NM_178335.3(CCDC50):c.1308T>A (p.Asn436Lys)	CCDC50 (N260K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468865	NM_178335.3(CCDC50):c.753T>G (p.Cys251Trp)	CCDC50 (C251W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2442773	NM_178335.3(CCDC50):c.669T>G (p.His223Gln)	CCDC50 (H223Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2426654	NC_000003.11:g.(?_189455509)_(192126012_?)dup	CCDC50, CLDN1 +10 more	Duplication	not provided	GUncertain significance
Select item 2424748	NC_000003.11:g.(?_188118572)_(192126012_?)dup	CCDC50, CLDN1 +13 more	Duplication	not provided	GUncertain significance
Select item 2424746	NC_000003.11:g.(?_188118572)_(192126012_?)del	CCDC50, CLDN1 +13 more	Deletion	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2410608	NM_178335.3(CCDC50):c.1339A>G (p.Met447Val)	CCDC50 (M447V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394712	NM_178335.3(CCDC50):c.1195C>T (p.Arg399Trp)	CCDC50 (R399W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2370846	NM_178335.3(CCDC50):c.800A>G (p.Lys267Arg)	CCDC50 (K267R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2331497	NM_178335.3(CCDC50):c.997A>C (p.Lys333Gln)	CCDC50 (K157Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251621	NM_178335.3(CCDC50):c.1087C>T (p.Leu363Phe)	CCDC50 (L187F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2190888	NM_178335.3(CCDC50):c.932C>T (p.Pro311Leu)	CCDC50 (P311L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2181676	NM_178335.3(CCDC50):c.1216A>G (p.Lys406Glu)	CCDC50 (K406E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2179413	NM_178335.3(CCDC50):c.627G>A (p.Ser209=)	CCDC50	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2172305	NM_178335.3(CCDC50):c.698C>A (p.Pro233His)	CCDC50 (P233H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2158588	NM_178335.3(CCDC50):c.983A>T (p.Lys328Met)	CCDC50 (K328M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2156695	NM_178335.3(CCDC50):c.972C>T (p.Asp324=)	CCDC50	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2136049	NM_178335.3(CCDC50):c.967C>T (p.His323Tyr)	CCDC50 (H323Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2120974	NM_178335.3(CCDC50):c.1093-5_1093-3del	CCDC50	Deletion (intron variant)	not provided	GUncertain significance
Select item 2113304	NM_178335.3(CCDC50):c.808C>G (p.Arg270Gly)	CCDC50 (R270G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2101399	NM_178335.3(CCDC50):c.678_679inv (p.Arg227Trp)	CCDC50 (R227W)	Inversion (missense variant +1 more)	not provided	GUncertain significance
Select item 2097239	NM_178335.3(CCDC50):c.873A>G (p.Val291=)	CCDC50	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2071579	NM_178335.3(CCDC50):c.321G>A (p.Lys107=)	CCDC50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063872	NM_178335.3(CCDC50):c.1426A>G (p.Lys476Glu)	CCDC50 (K300E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031280	NM_178335.3(CCDC50):c.419A>T (p.Tyr140Phe)	CCDC50 (Y140F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005146	NM_178335.3(CCDC50):c.1430-11C>G	CCDC50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1952650	NM_178335.3(CCDC50):c.1258G>A (p.Ala420Thr)	CCDC50 (A244T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934009	NM_178335.3(CCDC50):c.1057G>C (p.Glu353Gln)	CCDC50 (E177Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922003	NM_178335.3(CCDC50):c.988A>G (p.Arg330Gly)	CCDC50 (R154G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921804	NM_178335.3(CCDC50):c.240-4T>A	CCDC50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897760	NM_178335.3(CCDC50):c.1092+12T>C	CCDC50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1810666	NM_178335.3(CCDC50):c.809G>A (p.Arg270Gln)	CCDC50 (R270Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1810183	NM_178335.3(CCDC50):c.1439A>G (p.Tyr480Cys)	CCDC50 (Y304C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805828	NM_178335.3(CCDC50):c.372G>C (p.Glu124Asp)	CCDC50 (E124D)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 44	GUncertain significance
Select item 1803672	NM_178335.3(CCDC50):c.1106A>C (p.Asp369Ala)	CCDC50 (D193A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1801014	NM_178335.3(CCDC50):c.459G>T (p.Gly153=)	CCDC50	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1800758	NM_178335.3(CCDC50):c.33G>A (p.Leu11=)	CCDC50, UTS2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1800619	NM_178335.3(CCDC50):c.464G>A (p.Arg155Lys)	CCDC50 (R155K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1723817	NM_178335.3(CCDC50):c.718A>G (p.Thr240Ala)	CCDC50 (T240A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1693095	NM_178335.3(CCDC50):c.1148G>A (p.Arg383Gln)	CCDC50 (R207Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686739	NM_178335.3(CCDC50):c.413G>C (p.Arg138Pro)	CCDC50 (R138P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675241	NM_178335.3(CCDC50):c.113-36C>T	CCDC50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1673613	NM_178335.3(CCDC50):c.1419C>T (p.Ser473=)	CCDC50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1671447	NM_178335.3(CCDC50):c.1137+17A>C	CCDC50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663700	NM_178335.3(CCDC50):c.239+16G>A	CCDC50	Single nucleotide variant (intron variant)	not provided	GLikely benign

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