ClinVar for MedGen (Select 482927) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3779505	NM_001039213.4(CEACAM16):c.1203C>A (p.Tyr401Ter)	CEACAM16, CEACAM16-AS1 (Y401*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 4B +1 more	GLikely pathogenic
Select item 3765552	NM_001039213.4(CEACAM16):c.703dup (p.Arg235fs)	CEACAM16, CEACAM16-AS1 (R235fs)	Duplication (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 4B	GLikely pathogenic
Select item 1484989	NM_001039213.4(CEACAM16):c.1097C>T (p.Pro366Leu)	CEACAM16, CEACAM16-AS1 (P366L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4B +1 more	GConflicting classifications of pathogenicity
Select item 1185559	NM_001039213.4(CEACAM16):c.763A>G (p.Arg255Gly)	CEACAM16, CEACAM16-AS1 (R255G)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4B	GPathogenic
Select item 1065067	NM_001039213.4(CEACAM16):c.1135C>T (p.Arg379Trp)	CEACAM16, CEACAM16-AS1 (R379W)	Single nucleotide variant (missense variant)	Hearing impairment +3 more	GUncertain significance
Select item 1034400	NM_001039213.4(CEACAM16):c.-8G>A	CEACAM16, CEACAM16-AS1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 4B	GUncertain significance
Select item 1034399	NM_001039213.4(CEACAM16):c.245C>T (p.Thr82Met)	CEACAM16, CEACAM16-AS1 (T82M)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4B	GUncertain significance
Select item 667087	NM_001039213.4(CEACAM16):c.520G>A (p.Ala174Thr)	CEACAM16, CEACAM16-AS1 (A174T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 667086	NM_001039213.4(CEACAM16):c.565C>T (p.His189Tyr)	CEACAM16, CEACAM16-AS1 (H189Y)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 514246	NM_001039213.4(CEACAM16):c.95_96delinsTT (p.Ser32Ile)	CEACAM16, CEACAM16-AS1 (S32I)	Indel (missense variant)	Hearing loss, autosomal recessive 113 +2 more	GBenign/Likely benign
Select item 504817	NM_001039213.4(CEACAM16):c.234C>T (p.Gly78=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 283090	NM_001039213.4(CEACAM16):c.1191C>A (p.Asp397Glu)	CEACAM16, CEACAM16-AS1 (D397E)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 113 +2 more	GUncertain significance
Select item 235136	NM_001039213.4(CEACAM16):c.505G>A (p.Gly169Arg)	CEACAM16, CEACAM16-AS1 (G169R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4B	GPathogenic
Select item 31238	NM_001039213.4(CEACAM16):c.418A>C (p.Thr140Pro)	CEACAM16, CEACAM16-AS1 (T140P)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4B	GPathogenic