"Ambry Genetics"[submitter] AND "CKMT2-AS1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2476357	NM_001099735.2(CKMT2):c.34C>T (p.Arg12Cys)	CKMT2, CKMT2-AS1 (R12C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373346	NM_001099735.2(CKMT2):c.35G>A (p.Arg12His)	CKMT2-AS1, CKMT2 (R12H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346368	NM_001099735.2(CKMT2):c.41C>T (p.Ala14Val)	CKMT2-AS1, CKMT2 (A14V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473480	NM_001099735.2(CKMT2):c.172C>T (p.Arg58Cys)	CKMT2, CKMT2-AS1 (R58C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477851	NM_001099735.2(CKMT2):c.291C>A (p.Asn97Lys)	CKMT2, CKMT2-AS1 (N97K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406005	NM_001099735.2(CKMT2):c.317T>C (p.Val106Ala)	CKMT2, CKMT2-AS1 (V106A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511642	NM_001099735.2(CKMT2):c.506G>A (p.Arg169His)	CKMT2, CKMT2-AS1 (R169H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597901	NM_001099735.2(CKMT2):c.514C>T (p.Arg172Cys)	CKMT2, CKMT2-AS1 (R172C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475176	NM_001099735.2(CKMT2):c.544C>T (p.Arg182Trp)	CKMT2, CKMT2-AS1 (R182W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463263	NM_001099735.2(CKMT2):c.658C>G (p.Arg220Gly)	CKMT2, CKMT2-AS1 (R220G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238790	NM_001099735.2(CKMT2):c.671A>G (p.Asp224Gly)	CKMT2, CKMT2-AS1 (D224G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512356	NM_001099735.2(CKMT2):c.810G>C (p.Arg270Ser)	CKMT2, CKMT2-AS1 (R270S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269099	NM_001099735.2(CKMT2):c.982G>A (p.Gly328Ser)	CKMT2, CKMT2-AS1 (G328S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370096	NM_001099735.2(CKMT2):c.1060C>T (p.Arg354Cys)	CKMT2, CKMT2-AS1 (R354C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333436	NM_001099735.2(CKMT2):c.1127T>C (p.Ile376Thr)	CKMT2-AS1, CKMT2 (I376T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387010	NM_001099735.2(CKMT2):c.1208G>C (p.Arg403Thr)	CKMT2, CKMT2-AS1 (R403T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559428	NM_001099735.2(CKMT2):c.1223A>T (p.Lys408Met)	CKMT2, CKMT2-AS1 (K408M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance