ClinVar for MedGen (Select 346659) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2952344	NM_016356.5(DCDC2):c.558-5G>T	DCDC2	Single nucleotide variant (intron variant)	Isolated neonatal sclerosing cholangitis +2 more	GLikely benign
Select item 2949099	NM_016356.5(DCDC2):c.555C>T (p.His185=)	DCDC2	Single nucleotide variant (synonymous variant)	Isolated neonatal sclerosing cholangitis +1 more	GLikely benign
Select item 2944136	NM_016356.5(DCDC2):c.662G>A (p.Ser221Asn)	DCDC2 (S221N)	Single nucleotide variant (missense variant)	Isolated neonatal sclerosing cholangitis +1 more	GUncertain significance
Select item 2941915	NM_016356.5(DCDC2):c.558-4A>G	DCDC2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GLikely benign
Select item 2938618	NM_016356.5(DCDC2):c.760-7C>T	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 2931603	NM_016356.5(DCDC2):c.144G>C (p.Leu48=)	DCDC2, KAAG1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GLikely benign
Select item 2930001	NM_016356.5(DCDC2):c.656C>T (p.Pro219Leu)	DCDC2 (P219L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
Select item 2926912	NM_016356.5(DCDC2):c.425+11A>T	DCDC2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GLikely benign
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 2924571	NM_016356.5(DCDC2):c.326C>T (p.Pro109Leu)	DCDC2 (P109L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
Select item 2634418	NM_016356.5(DCDC2):c.705-2A>G	DCDC2	Single nucleotide variant (splice acceptor variant)	DCDC2-related condition +2 more	GPathogenic
Select item 2498997	NM_016356.5(DCDC2):c.803A>G (p.Asn268Ser)	DCDC2 (N268S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2426298	NC_000006.11:g.(?_24174958)_(24178880_?)dup	DCDC2	Duplication	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
Select item 2421955	NM_016356.5(DCDC2):c.923-8C>T	DCDC2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GLikely benign
Select item 2200102	NM_016356.5(DCDC2):c.923-12_923-9del	DCDC2	Deletion (intron variant)	DCDC2-related condition +2 more	GLikely benign
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 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 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 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 2186477	NM_016356.5(DCDC2):c.463C>T (p.Arg155Cys)	DCDC2 (R155C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
Select item 2185534	NM_016356.5(DCDC2):c.922+19T>C	DCDC2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GLikely benign
Select item 2183684	NM_016356.5(DCDC2):c.732T>C (p.Ile244=)	DCDC2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GLikely benign
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 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 2142443	NM_016356.5(DCDC2):c.293+20C>T	DCDC2, KAAG1	Single nucleotide variant (intron variant +1 more)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GLikely benign
Select item 2140544	NM_016356.5(DCDC2):c.660_661inv (p.Ser221Gly)	DCDC2 (S221G)	Inversion (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
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 2134198	NM_016356.5(DCDC2):c.349-8T>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 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 2071413	NM_016356.5(DCDC2):c.23C>T (p.Ser8Phe)	DCDC2, KAAG1 (S8F)	Single nucleotide variant (non-coding transcript variant +1 more)	Isolated neonatal sclerosing cholangitis +1 more	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 2056227	NM_016356.5(DCDC2):c.558-6C>T	DCDC2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 66 +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 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 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 2047908	NM_016356.5(DCDC2):c.366T>C (p.His122=)	DCDC2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +2 more	GLikely benign
Select item 2035476	NM_016356.5(DCDC2):c.696G>T (p.Arg232Ser)	DCDC2 (R232S)	Single nucleotide variant (missense variant)	Isolated neonatal sclerosing cholangitis +1 more	GUncertain significance
Select item 2031844	NM_016356.5(DCDC2):c.294-11T>A	DCDC2	Single nucleotide variant (intron variant)	Isolated neonatal sclerosing cholangitis +1 more	GLikely benign
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 1988817	NM_016356.5(DCDC2):c.866C>T (p.Thr289Met)	DCDC2 (T289M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
Select item 1982632	NM_016356.5(DCDC2):c.886A>G (p.Lys296Glu)	DCDC2 (K296E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
Select item 1980179	NM_016356.5(DCDC2):c.467T>A (p.Leu156His)	DCDC2 (L156H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
Select item 1973303	NM_016356.5(DCDC2):c.690G>A (p.Met230Ile)	DCDC2 (M230I)	Single nucleotide variant (missense variant)	Isolated neonatal sclerosing cholangitis +1 more	GUncertain significance
Select item 1973200	NM_016356.5(DCDC2):c.759+17T>G	DCDC2	Single nucleotide variant (intron variant)	Isolated neonatal sclerosing cholangitis +1 more	GLikely benign
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 1954576	NM_016356.5(DCDC2):c.99C>T (p.Arg33=)	DCDC2, KAAG1	Single nucleotide variant (synonymous variant +1 more)	Isolated neonatal sclerosing cholangitis +1 more	GLikely benign
Select item 1950987	NM_016356.5(DCDC2):c.923-10G>T	DCDC2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GLikely benign
Select item 1949715	NM_016356.5(DCDC2):c.755G>C (p.Gly252Ala)	DCDC2 (G252A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
Select item 1934544	NM_016356.5(DCDC2):c.388C>T (p.Arg130Cys)	DCDC2 (R130C)	Single nucleotide variant (missense variant)	Isolated neonatal sclerosing cholangitis +1 more	GUncertain significance
Select item 1919363	NM_016356.5(DCDC2):c.125C>T (p.Ser42Phe)	DCDC2, KAAG1 (S42F)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
Select item 1904109	NM_016356.5(DCDC2):c.557+14A>G	DCDC2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GLikely benign
Select item 1643839	NM_016356.5(DCDC2):c.456A>G (p.Pro152=)	DCDC2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GLikely benign
Select item 1626746	NM_016356.5(DCDC2):c.923-12T>G	DCDC2	Single nucleotide variant (intron variant)	Isolated neonatal sclerosing cholangitis +1 more	GLikely benign
Select item 1622660	NM_016356.5(DCDC2):c.923-18G>A	DCDC2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 66 +2 more	GLikely benign
Select item 1619444	NM_016356.5(DCDC2):c.705-10G>T	DCDC2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GLikely benign
Select item 1614159	NM_016356.5(DCDC2):c.918T>C (p.Asn306=)	DCDC2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GLikely benign
Select item 1586785	NM_016356.5(DCDC2):c.349-16dup	DCDC2	Duplication (intron variant)	Isolated neonatal sclerosing cholangitis +2 more	GBenign/Likely benign
Select item 1584008	NM_016356.5(DCDC2):c.705-11del	DCDC2	Deletion (intron variant)	Isolated neonatal sclerosing cholangitis +1 more	GLikely benign
Select item 1569385	NM_016356.5(DCDC2):c.93G>A (p.Gly31=)	DCDC2, KAAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GLikely benign
Select item 1546124	NM_016356.5(DCDC2):c.349-15C>T	DCDC2	Single nucleotide variant (intron variant)	Isolated neonatal sclerosing cholangitis +2 more	GLikely benign
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 1518942	NM_016356.5(DCDC2):c.85T>C (p.Tyr29His)	DCDC2, KAAG1 (Y29H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
Select item 1492885	NM_016356.5(DCDC2):c.426-2A>G	DCDC2	Single nucleotide variant (splice acceptor variant)	Isolated neonatal sclerosing cholangitis +1 more	GLikely pathogenic
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 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 1435804	NM_016356.5(DCDC2):c.401C>T (p.Pro134Leu)	DCDC2 (P134L)	Single nucleotide variant (missense variant)	not provided +2 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 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 1405263	NM_016356.5(DCDC2):c.802A>G (p.Asn268Asp)	DCDC2 (N268D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
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 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 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 1338443	NM_016356.5(DCDC2):c.840AGA[1] (p.Glu281del)	DCDC2 (E281del)	Microsatellite (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 66 +4 more	GUncertain significance
Select item 1255459	NM_016356.5(DCDC2):c.426-13C>T	DCDC2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 66 +3 more	GBenign
Select item 1250526	NM_016356.5(DCDC2):c.425+14C>A	DCDC2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 1205790	NM_016356.5(DCDC2):c.45C>A (p.Val15=)	KAAG1, DCDC2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +2 more	GLikely benign
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 1141230	NM_016356.5(DCDC2):c.705-4A>C	DCDC2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GLikely benign
Select item 1109295	NM_016356.5(DCDC2):c.471T>G (p.Leu157=)	DCDC2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GLikely benign
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 1035839	NM_016356.5(DCDC2):c.685A>G (p.Thr229Ala)	DCDC2 (T229A)	Single nucleotide variant (missense variant)	Nephronophthisis 19 +2 more	GUncertain significance
Select item 1033408	NM_016356.5(DCDC2):c.278C>A (p.Ala93Asp)	KAAG1, DCDC2 (A93D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +3 more	GUncertain significance
Select item 942438	NM_016356.5(DCDC2):c.728C>G (p.Pro243Arg)	DCDC2 (P243R)	Single nucleotide variant (missense variant)	Isolated neonatal sclerosing cholangitis +1 more	GUncertain significance
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 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 838322	NM_016356.5(DCDC2):c.349G>A (p.Val117Ile)	DCDC2 (V117I)	Single nucleotide variant (missense variant)	Isolated neonatal sclerosing cholangitis +2 more	GUncertain significance
Select item 804454	NM_016356.5(DCDC2):c.549dup (p.Val184fs)	DCDC2 (V184fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 66 +2 more	GLikely pathogenic
Select item 802191	NM_016356.5(DCDC2):c.829A>T (p.Lys277Ter)	DCDC2 (K277*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 66	GLikely pathogenic
Select item 767488	NM_016356.5(DCDC2):c.750T>G (p.Ser250=)	DCDC2	Single nucleotide variant (synonymous variant)	DCDC2-related condition +3 more	GConflicting classifications of pathogenicity
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 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 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 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 654576	NM_016356.5(DCDC2):c.785C>T (p.Thr262Ile)	DCDC2 (T262I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 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 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 596798	NM_016356.5(DCDC2):c.402G>A (p.Pro134=)	DCDC2	Single nucleotide variant (synonymous variant)	DCDC2-related condition +3 more	GConflicting classifications of pathogenicity

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