18141[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	LOC129995913, LOC129995914 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144466	GRCh38/hg38 6p22.3-22.2(chr6:22519454-25226331)x1	ACOT13, ALDH5A1 +50 more	Copy number loss	See cases	GPathogenic
Select item 149747	GRCh38/hg38 6p22.3-22.2(chr6:23252522-25967277)x1	ACOT13, ALDH5A1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 1250200	NM_016356.5(DCDC2):c.*284T>C	DCDC2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1224735	NM_016356.5(DCDC2):c.278_279insTTTGTA	DCDC2	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 1241943	NM_016356.5(DCDC2):c.*155T>G	DCDC2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1263120	NM_016356.5(DCDC2):c.*124A>T	DCDC2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3044654	NM_016356.5(DCDC2):c.*10A>G	DCDC2	Single nucleotide variant (3 prime UTR variant)	DCDC2-related condition	GLikely benign
Select item 1230061	NM_016356.5(DCDC2):c.*3C>G	DCDC2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 1215327	NM_016356.5(DCDC2):c.*3C>T	DCDC2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 593401	NM_016356.5(DCDC2):c.1423G>A (p.Val475Met)	DCDC2 (V475M)	Single nucleotide variant (missense variant)	DCDC2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1195693	NM_016356.5(DCDC2):c.1422C>T (p.Ala474=)	DCDC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2053179	NM_016356.5(DCDC2):c.1406A>C (p.Asn469Thr)	DCDC2 (N469T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
Select item 593505	NM_016356.5(DCDC2):c.1390G>A (p.Glu464Lys)	DCDC2 (E464K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596830	NM_016356.5(DCDC2):c.1378C>T (p.Pro460Ser)	DCDC2 (P460S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 508595	NM_016356.5(DCDC2):c.1368A>T (p.Lys456Asn)	DCDC2 (K456N)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 594461	NM_016356.5(DCDC2):c.1364T>C (p.Val455Ala)	DCDC2 (V455A)	Single nucleotide variant (missense variant)	Nephronophthisis 19 +3 more	GUncertain significance
Select item 593550	NM_016356.5(DCDC2):c.1359A>G (p.Pro453=)	DCDC2	Single nucleotide variant (synonymous variant)	DCDC2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 594591	NM_016356.5(DCDC2):c.1356G>A (p.Arg452=)	DCDC2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2575874	NM_016356.5(DCDC2):c.1348C>A (p.Pro450Thr)	DCDC2 (P450T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 739336	NM_016356.5(DCDC2):c.1344A>G (p.Gln448=)	DCDC2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GLikely benign
Select item 2633137	NM_016356.5(DCDC2):c.1342C>A (p.Gln448Lys)	DCDC2 (Q448K)	Single nucleotide variant (missense variant)	DCDC2-related condition	GUncertain significance
Select item 3049099	NM_016356.5(DCDC2):c.1327-9T>C	DCDC2	Single nucleotide variant (intron variant)	DCDC2-related condition	GLikely benign
Select item 1311558	NM_016356.5(DCDC2):c.1327-11T>C	DCDC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2175411	NM_016356.5(DCDC2):c.1327-15T>A	DCDC2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GLikely benign
Select item 682615	NM_016356.5(DCDC2):c.1327-62A>G	DCDC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180044	NM_016356.5(DCDC2):c.1327-257T>C	DCDC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289062	NM_016356.5(DCDC2):c.1327-264_1327-261del	DCDC2	Deletion (intron variant)	not provided	GBenign
Select item 1201958	NM_016356.5(DCDC2):c.1327-318G>C	DCDC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259301	NM_016356.5(DCDC2):c.1326+252C>T	DCDC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683198	NM_016356.5(DCDC2):c.1326+59C>T	DCDC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2926257	NM_016356.5(DCDC2):c.1326+9A>G	DCDC2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GLikely benign
Select item 2112166	NM_016356.5(DCDC2):c.1318C>T (p.Gln440Ter)	DCDC2 (Q440*)	Single nucleotide variant (nonsense)	Isolated neonatal sclerosing cholangitis +1 more	GUncertain significance
Select item 595388	NM_016356.5(DCDC2):c.1314T>C (p.Ser438=)	DCDC2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1992833	NM_016356.5(DCDC2):c.1313G>T (p.Ser438Ile)	DCDC2 (S438I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
Select item 596120	NM_016356.5(DCDC2):c.1288G>A (p.Glu430Lys)	DCDC2 (E430K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1472214	NM_016356.5(DCDC2):c.1283A>T (p.Asp428Val)	DCDC2 (D428V)	Single nucleotide variant (missense variant)	Isolated neonatal sclerosing cholangitis +1 more	GUncertain significance
Select item 2048632	NM_016356.5(DCDC2):c.1275G>T (p.Leu425=)	DCDC2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +2 more	GLikely benign
Select item 2159957	NM_016356.5(DCDC2):c.1272A>G (p.Gln424=)	DCDC2	Single nucleotide variant (synonymous variant)	DCDC2-related condition +2 more	GLikely benign
Select item 161160	NM_016356.5(DCDC2):c.1271A>C (p.Gln424Pro)	DCDC2 (Q424P)	Single nucleotide variant (missense variant)	Nonsyndromic Deafness +1 more	GPathogenic
Select item 1360754	NM_016356.5(DCDC2):c.1241A>C (p.Glu414Ala)	DCDC2 (E414A)	Single nucleotide variant (missense variant)	Isolated neonatal sclerosing cholangitis +1 more	GUncertain significance
Select item 1407612	NM_016356.5(DCDC2):c.1237G>A (p.Gly413Ser)	DCDC2 (G413S)	Single nucleotide variant (missense variant)	Isolated neonatal sclerosing cholangitis +1 more	GUncertain significance
Select item 2196211	NM_016356.5(DCDC2):c.1224C>T (p.Thr408=)	DCDC2	Single nucleotide variant (synonymous variant)	Isolated neonatal sclerosing cholangitis +1 more	GLikely benign
Select item 744777	NM_016356.5(DCDC2):c.1224C>A (p.Thr408=)	DCDC2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GLikely benign
Select item 1395243	NM_016356.5(DCDC2):c.1223C>T (p.Thr408Ile)	DCDC2 (T408I)	Single nucleotide variant (missense variant)	Isolated neonatal sclerosing cholangitis +1 more	GUncertain significance
Select item 2050229	NM_016356.5(DCDC2):c.1221C>G (p.Gly407=)	DCDC2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GLikely benign
Select item 2139266	NM_016356.5(DCDC2):c.1220G>T (p.Gly407Val)	DCDC2 (G407V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
Select item 1478170	NM_016356.5(DCDC2):c.1219G>C (p.Gly407Arg)	DCDC2 (G407R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
Select item 595877	NM_016356.5(DCDC2):c.1217G>A (p.Gly406Glu)	DCDC2 (G406E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3030817	NM_016356.5(DCDC2):c.1212A>C (p.Val404=)	DCDC2	Single nucleotide variant (synonymous variant)	DCDC2-related condition	GLikely benign
Select item 466322	NM_016356.5(DCDC2):c.1208G>A (p.Arg403His)	DCDC2 (R403H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +3 more	GBenign/Likely benign
Select item 2190530	NM_016356.5(DCDC2):c.1207C>T (p.Arg403Cys)	DCDC2 (R403C)	Single nucleotide variant (missense variant)	Isolated neonatal sclerosing cholangitis +1 more	GUncertain significance
Select item 1543612	NM_016356.5(DCDC2):c.1203T>A (p.Pro401=)	DCDC2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +2 more	GLikely benign
Select item 593218	NM_016356.5(DCDC2):c.1199G>A (p.Arg400His)	DCDC2 (R400H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 591519	NM_016356.5(DCDC2):c.1181dup (p.His394fs)	DCDC2 (H394fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2066584	NM_016356.5(DCDC2):c.1165G>A (p.Glu389Lys)	DCDC2 (E389K)	Single nucleotide variant (missense variant)	Isolated neonatal sclerosing cholangitis +1 more	GUncertain significance
Select item 707242	NM_016356.5(DCDC2):c.1164C>T (p.Val388=)	DCDC2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GLikely benign
Select item 2629455	NM_016356.5(DCDC2):c.1155del (p.Glu386fs)	DCDC2 (E386fs)	Deletion (frameshift variant)	DCDC2-related condition	GLikely pathogenic
Select item 660101	NM_016356.5(DCDC2):c.1154C>T (p.Pro385Leu)	DCDC2 (P385L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
Select item 1218739	NM_016356.5(DCDC2):c.1147G>C (p.Asp383His)	DCDC2 (D383H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 731734	NM_016356.5(DCDC2):c.1137G>A (p.Arg379=)	DCDC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2469909	NM_016356.5(DCDC2):c.1136G>A (p.Arg379Lys)	DCDC2 (R379K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 594755	NM_016356.5(DCDC2):c.1108A>G (p.Asn370Asp)	DCDC2 (N370D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502344	NM_016356.5(DCDC2):c.1102G>A (p.Gly368Arg)	DCDC2 (G368R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502738	NM_016356.5(DCDC2):c.1100C>T (p.Ser367Leu)	DCDC2 (S367L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1086769	NM_016356.5(DCDC2):c.1099T>A (p.Ser367Thr)	DCDC2 (S367T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 850513	NM_016356.5(DCDC2):c.1076A>T (p.Asp359Val)	DCDC2 (D359V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
Select item 1416245	NM_016356.5(DCDC2):c.1071C>A (p.Asn357Lys)	DCDC2 (N357K)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
Select item 2469908	NM_016356.5(DCDC2):c.1066G>C (p.Ala356Pro)	DCDC2 (A356P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 596110	NM_016356.5(DCDC2):c.1066G>A (p.Ala356Thr)	DCDC2 (A356T)	Single nucleotide variant (missense variant)	Isolated neonatal sclerosing cholangitis +3 more	GConflicting classifications of pathogenicity
Select item 2187708	NM_016356.5(DCDC2):c.1056T>G (p.Asp352Glu)	DCDC2 (D352E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
Select item 466321	NM_016356.5(DCDC2):c.1044C>T (p.Asp348=)	DCDC2	Single nucleotide variant (synonymous variant)	Isolated neonatal sclerosing cholangitis +4 more	GBenign/Likely benign
Select item 1704142	NM_016356.5(DCDC2):c.1028C>T (p.Pro343Leu)	DCDC2 (P343L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596438	NM_016356.5(DCDC2):c.1024A>T (p.Arg342Trp)	DCDC2 (R342W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2073292	NM_016356.5(DCDC2):c.1024-16C>T	DCDC2	Single nucleotide variant (intron variant)	Isolated neonatal sclerosing cholangitis +1 more	GLikely benign
Select item 675948	NM_016356.5(DCDC2):c.1024-27T>C	DCDC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269446	NM_016356.5(DCDC2):c.1024-138G>A	DCDC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276748	NM_016356.5(DCDC2):c.1024-139C>T	DCDC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238549	NM_016356.5(DCDC2):c.1024-201G>C	DCDC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259671	NM_016356.5(DCDC2):c.1023+245T>C	DCDC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183019	NM_016356.5(DCDC2):c.1023+154dup	DCDC2	Duplication (intron variant)	not provided	GBenign
Select item 973531	NM_016356.5(DCDC2):c.923-283_1023+141del	DCDC2	Deletion (splice acceptor variant +1 more)	Isolated neonatal sclerosing cholangitis	GLikely pathogenic
Select item 682718	NM_016356.5(DCDC2):c.1023+28G>C	DCDC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2195887	NM_016356.5(DCDC2):c.1023+14C>A	DCDC2	Single nucleotide variant (intron variant)	Isolated neonatal sclerosing cholangitis +1 more	GLikely benign
Select item 2935578	NM_016356.5(DCDC2):c.1023+11T>C	DCDC2	Single nucleotide variant (intron variant)	Isolated neonatal sclerosing cholangitis +1 more	GLikely benign
Select item 500877	NM_016356.5(DCDC2):c.1023+9C>T	DCDC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1175738	NM_016356.5(DCDC2):c.1018G>A (p.Asp340Asn)	DCDC2 (D340N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 517825	NM_016356.5(DCDC2):c.1017C>T (p.Val339=)	DCDC2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +3 more	GBenign
Select item 2662879	NM_016356.5(DCDC2):c.1009G>C (p.Val337Leu)	DCDC2 (V337L)	Single nucleotide variant (missense variant)	DCDC2-related condition +1 more	GUncertain significance
Select item 597070	NM_016356.5(DCDC2):c.999T>G (p.Thr333=)	DCDC2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +2 more	GConflicting classifications of pathogenicity
Select item 1957520	NM_016356.5(DCDC2):c.992A>T (p.Glu331Val)	DCDC2 (E331V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
Select item 2310256	NM_016356.5(DCDC2):c.983A>G (p.Gln328Arg)	DCDC2 (Q328R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526899	NM_016356.5(DCDC2):c.978A>C (p.Glu326Asp)	DCDC2 (E326D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 595088	NM_016356.5(DCDC2):c.970dup (p.Ala324fs)	DCDC2 (A324fs)	Duplication (frameshift variant)	Isolated neonatal sclerosing cholangitis +4 more	GPathogenic/Likely pathogenic
Select item 862889	NM_016356.5(DCDC2):c.970G>T (p.Ala324Ser)	DCDC2 (A324S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
Select item 1342839	NM_016356.5(DCDC2):c.967G>C (p.Gly323Arg)	DCDC2 (G323R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
Select item 595293	NM_016356.5(DCDC2):c.965G>C (p.Arg322Pro)	DCDC2 (R322P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 598138	NM_016356.5(DCDC2):c.954G>A (p.Arg318=)	DCDC2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +2 more	GConflicting classifications of pathogenicity
Select item 501471	NM_016356.5(DCDC2):c.942del (p.Gly315fs)	DCDC2 (G315fs)	Deletion (frameshift variant)	Isolated neonatal sclerosing cholangitis +4 more	GPathogenic/Likely pathogenic

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