KAAG1[gene] - ClinVar

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Items: 52

	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 151607	GRCh38/hg38 6p22.3(chr6:24281919-24479832)x1	DCDC2, GPLD1 +5 more	Copy number loss	See cases	GUncertain significance
Select item 683196	NM_016356.5(DCDC2):c.293+79C>T	DCDC2, KAAG1	Single nucleotide variant (intron variant)	not provided	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 593986	NM_016356.5(DCDC2):c.293dup (p.Asn98fs)	DCDC2, KAAG1 (N98fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 917935	NM_016356.5(DCDC2):c.223_293del (p.Arg75fs)	DCDC2, KAAG1 (R75fs)	Deletion (frameshift variant)	Nephronophthisis 19	GLikely pathogenic
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 3031949	NM_016356.5(DCDC2):c.258C>T (p.Tyr86=)	DCDC2, KAAG1	Single nucleotide variant (non-coding transcript variant +1 more)	DCDC2-related condition	GLikely benign
Select item 1313436	NM_016356.5(DCDC2):c.247G>C (p.Gly83Arg)	DCDC2, KAAG1 (G83R)	Single nucleotide variant (missense variant)	DCDC2-related condition +1 more	GUncertain significance
Select item 1312394	NM_016356.5(DCDC2):c.232G>C (p.Asp78His)	DCDC2, KAAG1 (D78H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502350	NM_016356.5(DCDC2):c.222C>A (p.Ile74=)	KAAG1, DCDC2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +4 more	GConflicting classifications of pathogenicity
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 2336708	NM_016356.5(DCDC2):c.209C>A (p.Thr70Asn)	KAAG1, DCDC2 (T70N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 condition	GLikely benign
Select item 466323	NM_016356.5(DCDC2):c.183C>T (p.Ala61=)	DCDC2, KAAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +2 more	GBenign
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 condition	GLikely benign
Select item 594819	NM_016356.5(DCDC2):c.151G>C (p.Val51Leu)	DCDC2, KAAG1 (V51L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 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 180688	NM_016356.5(DCDC2):c.123_124del (p.Ser42fs)	DCDC2, KAAG1 (S42fs)	Microsatellite (frameshift variant)	Isolated neonatal sclerosing cholangitis +3 more	GPathogenic
Select item 994593	NM_016356.5(DCDC2):c.117G>A (p.Lys39=)	KAAG1, DCDC2	Single nucleotide variant (synonymous variant)	not provided	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 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 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 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 1339152	NM_016356.5(DCDC2):c.71A>C (p.Asn24Thr)	DCDC2, KAAG1 (N24T)	Single nucleotide variant (missense variant)	Isolated neonatal sclerosing cholangitis	GUncertain significance
Select item 575006	NM_016356.5(DCDC2):c.68G>T (p.Arg23Leu)	DCDC2, KAAG1 (R23L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 66 +3 more	GConflicting classifications of pathogenicity
Select item 594509	NM_016356.5(DCDC2):c.57G>T (p.Val19=)	DCDC2, KAAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +2 more	GConflicting classifications of pathogenicity
Select item 417766	NM_016356.5(DCDC2):c.51G>C (p.Lys17Asn)	DCDC2, KAAG1 (K17N)	Single nucleotide variant (missense variant)	Isolated neonatal sclerosing cholangitis	GPathogenic
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 3054651	NM_016356.5(DCDC2):c.42C>T (p.Pro14=)	DCDC2, KAAG1	Single nucleotide variant (non-coding transcript variant +1 more)	DCDC2-related condition	GLikely benign
Select item 2273519	NM_016356.5(DCDC2):c.30C>T (p.His10=)	DCDC2, KAAG1	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2259880	NM_016356.5(DCDC2):c.-8C>T	KAAG1, DCDC2	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335284	NM_016356.5(DCDC2):c.-19G>C	KAAG1, DCDC2	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1190269	NM_016356.5(DCDC2):c.-24C>T	DCDC2, KAAG1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2381586	NM_016356.5(DCDC2):c.-56A>G	DCDC2, KAAG1	Single nucleotide variant (non-coding transcript variant +1 more)	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)	Inborn genetic diseases	GUncertain significance
Select item 2382216	NM_016356.5(DCDC2):c.-85C>T	KAAG1, DCDC2	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1188454	NM_016356.5(DCDC2):c.-89C>A	DCDC2, KAAG1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1191807	NM_016356.5(DCDC2):c.-192T>C	DCDC2, KAAG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1240698	NM_016356.5(DCDC2):c.-224C>T	DCDC2, KAAG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1281613	NM_016356.5(DCDC2):c.-285C>T	DCDC2, KAAG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1255344	NM_001195610.2(DCDC2):c.-97-408C>G	DCDC2, KAAG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
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 1809503	GRCh37/hg19 6p22.3(chr6:24298255-24500515)x3	ALDH5A1, DCDC2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1511269	NC_000006.11:g.(?_24278257)_(24533940_?)dup	KAAG1, MRS2 +3 more	Duplication	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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Items: 52