"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 666807	NM_001039213.4(CEACAM16):c.35G>A (p.Ser12Asn)	CEACAM16, CEACAM16-AS1 (S12N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 226507	NM_001039213.4(CEACAM16):c.43T>C (p.Phe15Leu)	CEACAM16, CEACAM16-AS1 (F15L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 504865	NM_001039213.4(CEACAM16):c.61G>A (p.Glu21Lys)	CEACAM16, CEACAM16-AS1 (E21K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 226511	NM_001039213.4(CEACAM16):c.95G>T (p.Ser32Ile)	CEACAM16, CEACAM16-AS1 (S32I)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 226512	NM_001039213.4(CEACAM16):c.96C>T (p.Ser32=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 226502	NM_001039213.4(CEACAM16):c.114G>A (p.Thr38=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 504866	NM_001039213.4(CEACAM16):c.116T>A (p.Leu39Gln)	CEACAM16, CEACAM16-AS1 (L39Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 666669	NM_001039213.4(CEACAM16):c.246G>A (p.Thr82=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 505181	NM_001039213.4(CEACAM16):c.359G>C (p.Gly120Ala)	CEACAM16, CEACAM16-AS1 (G120A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 226508	NM_001039213.4(CEACAM16):c.508G>A (p.Ala170Thr)	CEACAM16, CEACAM16-AS1 (A170T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 930023	NM_001039213.4(CEACAM16):c.517G>A (p.Val173Ile)	CEACAM16, CEACAM16-AS1 (V173I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 227241	NM_001039213.4(CEACAM16):c.519C>T (p.Val173=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 667087	NM_001039213.4(CEACAM16):c.520G>A (p.Ala174Thr)	CEACAM16, CEACAM16-AS1 (A174T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 420499	NM_001039213.4(CEACAM16):c.527G>A (p.Arg176His)	CEACAM16-AS1, CEACAM16 (R176H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 226509	NM_001039213.4(CEACAM16):c.539C>T (p.Ser180Phe)	CEACAM16, CEACAM16-AS1 (S180F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 227242	NM_001039213.4(CEACAM16):c.546C>T (p.Asp182=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 667086	NM_001039213.4(CEACAM16):c.565C>T (p.His189Tyr)	CEACAM16, CEACAM16-AS1 (H189Y)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4B +2 more	GConflicting classifications of pathogenicity
Select item 3075945	NM_001039213.4(CEACAM16):c.588C>T (p.Ala196=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 228510	NM_001039213.4(CEACAM16):c.626T>A (p.Val209Asp)	CEACAM16, CEACAM16-AS1 (V209D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 226510	NM_001039213.4(CEACAM16):c.941-14C>T	CEACAM16, CEACAM16-AS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 227243	NM_001039213.4(CEACAM16):c.941-8C>T	CEACAM16, CEACAM16-AS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 228515	NM_001039213.4(CEACAM16):c.970G>A (p.Val324Met)	CEACAM16, CEACAM16-AS1 (V324M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 504818	NM_001039213.4(CEACAM16):c.999C>T (p.Asp333=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 666667	NM_001039213.4(CEACAM16):c.1045G>A (p.Ala349Thr)	CEACAM16, CEACAM16-AS1 (A349T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 930137	NM_001039213.4(CEACAM16):c.1054C>T (p.Arg352Cys)	CEACAM16-AS1, CEACAM16 (R352C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 505715	NM_001039213.4(CEACAM16):c.1104A>G (p.Gly368=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 228513	NM_001039213.4(CEACAM16):c.1186A>G (p.Thr396Ala)	CEACAM16, CEACAM16-AS1 (T396A)	Single nucleotide variant (missense variant)	Rare genetic deafness	GLikely pathogenic
Select item 504819	NM_001039213.4(CEACAM16):c.1203C>T (p.Tyr401=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 769228	NM_001039213.4(CEACAM16):c.1215T>C (p.Thr405=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 226503	NM_001039213.4(CEACAM16):c.1215= (p.Thr405=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (no sequence alteration)	not specified +1 more	GBenign
Select item 227240	NM_001039213.4(CEACAM16):c.1249G>C (p.Val417Leu)	CEACAM16, CEACAM16-AS1 (V417L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 228514	NM_001039213.4(CEACAM16):c.1267+1G>A	CEACAM16, CEACAM16-AS1	Single nucleotide variant (splice donor variant)	not provided +1 more	GUncertain significance
Select item 226504	NM_001039213.4(CEACAM16):c.1268-13A>G	CEACAM16, CEACAM16-AS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 226505	NM_001039213.4(CEACAM16):c.1278A>G (p.Ter426=)	CEACAM16, CEACAM16-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 666668	NM_001039213.4(CEACAM16):c.*4C>A	CEACAM16, CEACAM16-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign

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Items: 40