"Ambry Genetics"[submitter] AND "CLDN14-AS1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2189001	NM_001146079.2(CLDN14):c.715G>A (p.Val239Met)	CLDN14, CLDN14-AS1 (V239M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2364068	NM_001146079.2(CLDN14):c.661C>G (p.Arg221Gly)	CLDN14, CLDN14-AS1 (R221G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543824	NM_001146079.2(CLDN14):c.614C>T (p.Ala205Val)	CLDN14, CLDN14-AS1 (A205V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552512	NM_001146079.2(CLDN14):c.416C>T (p.Thr139Ile)	CLDN14, CLDN14-AS1 (T139I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250275	NM_001146079.2(CLDN14):c.403G>T (p.Ala135Ser)	CLDN14, CLDN14-AS1 (A135S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2168685	NM_001146079.2(CLDN14):c.316C>T (p.Arg106Cys)	CLDN14, CLDN14-AS1 (R106C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2236241	NM_001146079.2(CLDN14):c.130G>A (p.Val44Met)	CLDN14, CLDN14-AS1 (V44M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251099	NM_001146079.2(CLDN14):c.101C>T (p.Ala34Val)	CLDN14, CLDN14-AS1 (A34V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381286	NM_001146079.2(CLDN14):c.92G>A (p.Arg31Gln)	CLDN14, CLDN14-AS1 (R31Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance