"Eurofins Ntd Llc (ga)"[submitter] AND "CEACAM16"[gene] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 196306	NM_001039213.4(CEACAM16):c.51T>C (p.Asn17=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 226506	NM_001039213.4(CEACAM16):c.352G>A (p.Glu118Lys)	CEACAM16, CEACAM16-AS1 (E118K)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 288919	NM_001039213.4(CEACAM16):c.589G>A (p.Gly197Ser)	CEACAM16, CEACAM16-AS1 (G197S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 500433	NM_001039213.4(CEACAM16):c.738G>A (p.Thr246=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 281644	NM_001039213.4(CEACAM16):c.869C>T (p.Thr290Met)	CEACAM16, CEACAM16-AS1 (T290M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 500429	NM_001039213.4(CEACAM16):c.1125G>A (p.Ala375=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 283090	NM_001039213.4(CEACAM16):c.1191C>A (p.Asp397Glu)	CEACAM16, CEACAM16-AS1 (D397E)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4B +2 more	GUncertain significance