ClinVar for Gene (Select 51473) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271038	NM_016356.5(DCDC2):c.1034A>T (p.Glu345Val)	DCDC2 (E345V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271037	NM_016356.5(DCDC2):c.1085A>G (p.Gln362Arg)	DCDC2 (Q362R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246010	NC_000006.11:g.(?_24291140)_(24291326_?)dup	DCDC2	Duplication	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GUncertain significance
Select item 3080428	NM_016356.5(DCDC2):c.499G>T (p.Asp167Tyr)	DCDC2 (D167Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080427	NM_016356.5(DCDC2):c.356C>T (p.Pro119Leu)	DCDC2 (P119L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080426	NM_016356.5(DCDC2):c.239T>C (p.Ile80Thr)	DCDC2, KAAG1 (I80T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080424	NM_016356.5(DCDC2):c.1177G>T (p.Asp393Tyr)	DCDC2 (D393Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064930	NM_016356.5(DCDC2):c.349-1G>T	DCDC2	Single nucleotide variant (splice acceptor variant)	Nephronophthisis 19	GUncertain significance
Select item 3064383	NM_016356.5(DCDC2):c.698C>T (p.Pro233Leu)	DCDC2 (P233L)	Single nucleotide variant (missense variant)	Nephronophthisis 19	GUncertain significance
Select item 3064075	NM_016356.5(DCDC2):c.901C>T (p.Gln301Ter)	DCDC2 (Q301*)	Single nucleotide variant (nonsense)	Nephronophthisis 19	GLikely pathogenic
Select item 3061641	NM_016356.5(DCDC2):c.618T>C (p.Phe206=)	DCDC2	Single nucleotide variant (synonymous variant)	DCDC2-related disorder	GLikely benign
Select item 3057280	NM_016356.5(DCDC2):c.745A>C (p.Lys249Gln)	DCDC2 (K249Q)	Single nucleotide variant (missense variant)	DCDC2-related disorder	GUncertain significance
Select item 3054651	NM_016356.5(DCDC2):c.42C>T (p.Pro14=)	DCDC2, KAAG1	Single nucleotide variant (non-coding transcript variant +1 more)	DCDC2-related disorder	GLikely benign
Select item 3049099	NM_016356.5(DCDC2):c.1327-9T>C	DCDC2	Single nucleotide variant (intron variant)	DCDC2-related disorder	GLikely benign
Select item 3048480	NM_016356.5(DCDC2):c.162C>T (p.Gly54=)	DCDC2, KAAG1	Single nucleotide variant (non-coding transcript variant +1 more)	DCDC2-related disorder	GLikely benign
Select item 3044654	NM_016356.5(DCDC2):c.*10A>G	DCDC2	Single nucleotide variant (3 prime UTR variant)	DCDC2-related disorder	GLikely benign
Select item 3035838	NM_016356.5(DCDC2):c.206G>A (p.Arg69Gln)	DCDC2, KAAG1 (R69Q)	Single nucleotide variant (non-coding transcript variant +1 more)	DCDC2-related disorder	GLikely benign
Select item 3032679	NM_016356.5(DCDC2):c.704+6T>C	DCDC2	Single nucleotide variant (intron variant)	DCDC2-related disorder	GLikely benign
Select item 3031949	NM_016356.5(DCDC2):c.258C>T (p.Tyr86=)	DCDC2, KAAG1	Single nucleotide variant (non-coding transcript variant +1 more)	DCDC2-related disorder	GLikely benign
Select item 3030817	NM_016356.5(DCDC2):c.1212A>C (p.Val404=)	DCDC2	Single nucleotide variant (synonymous variant)	DCDC2-related disorder	GLikely benign
Select item 3028896	NM_016356.5(DCDC2):c.76G>C (p.Asp26His)	DCDC2, KAAG1 (D26H)	Single nucleotide variant (non-coding transcript variant +1 more)	Isolated neonatal sclerosing cholangitis	GLikely pathogenic
Select item 2952344	NM_016356.5(DCDC2):c.558-5G>T	DCDC2	Single nucleotide variant (intron variant)	DCDC2-related disorder +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)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2685198	GRCh37/hg19 6p22.3(chr6:24104231-24268740)x1	DCDC2, NRSN1	Copy number loss	not provided	GUncertain significance
Select item 2685197	GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1	ACOT13, ALDH5A1 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2663132	NM_016356.5(DCDC2):c.650A>T (p.Lys217Ile)	DCDC2 (K217I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662879	NM_016356.5(DCDC2):c.1009G>C (p.Val337Leu)	DCDC2 (V337L)	Single nucleotide variant (missense variant)	DCDC2-related disorder +1 more	GUncertain significance
Select item 2634418	NM_016356.5(DCDC2):c.705-2A>G	DCDC2	Single nucleotide variant (splice acceptor variant)	DCDC2-related disorder +2 more	GPathogenic
Select item 2633137	NM_016356.5(DCDC2):c.1342C>A (p.Gln448Lys)	DCDC2 (Q448K)	Single nucleotide variant (missense variant)	DCDC2-related disorder	GUncertain significance
Select item 2629455	NM_016356.5(DCDC2):c.1155del (p.Glu386fs)	DCDC2 (E386fs)	Deletion (frameshift variant)	DCDC2-related disorder	GLikely pathogenic
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 2526899	NM_016356.5(DCDC2):c.978A>C (p.Glu326Asp)	DCDC2 (E326D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522357	NM_016356.5(DCDC2):c.378C>G (p.Asn126Lys)	DCDC2 (N126K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2469909	NM_016356.5(DCDC2):c.1136G>A (p.Arg379Lys)	DCDC2 (R379K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2464291	NM_016356.5(DCDC2):c.-83C>T	DCDC2, KAAG1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2440713	NM_016356.5(DCDC2):c.215A>G (p.His72Arg)	DCDC2, KAAG1 (H72R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 2382216	NM_016356.5(DCDC2):c.-85C>T	DCDC2, KAAG1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2381586	NM_016356.5(DCDC2):c.-56A>G	DCDC2, KAAG1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2336708	NM_016356.5(DCDC2):c.209C>A (p.Thr70Asn)	DCDC2, KAAG1 (T70N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335284	NM_016356.5(DCDC2):c.-19G>C	DCDC2, KAAG1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2311516	NM_016356.5(DCDC2):c.755G>A (p.Gly252Glu)	DCDC2 (G252E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2273519	NM_016356.5(DCDC2):c.30C>T (p.His10=)	DCDC2, KAAG1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2259880	NM_016356.5(DCDC2):c.-8C>T	DCDC2, KAAG1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2200102	NM_016356.5(DCDC2):c.923-12_923-9del	DCDC2	Deletion (intron variant)	Autosomal recessive nonsyndromic hearing loss 66 +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)	Isolated neonatal sclerosing cholangitis +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)	Isolated neonatal sclerosing cholangitis +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)	DCDC2-related disorder +2 more	GLikely benign
Select item 2047908	NM_016356.5(DCDC2):c.366T>C (p.His122=)	DCDC2	Single nucleotide variant (synonymous variant)	Isolated neonatal sclerosing cholangitis +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 1809503	GRCh37/hg19 6p22.3(chr6:24298255-24500515)x3	ALDH5A1, DCDC2 +3 more	Copy number gain	not provided	GUncertain significance
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 1687593	NM_016356.5(DCDC2):c.557+1G>T	DCDC2	Single nucleotide variant (splice donor variant)	Nephronophthisis 19	GPathogenic
Select item 1687288	NM_016356.5(DCDC2):c.536_537del (p.Leu179fs)	DCDC2 (L179fs)	Deletion (frameshift variant)	Isolated neonatal sclerosing cholangitis	GPathogenic
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

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