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

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 163000	NM_001376256.1(CRYM):c.907G>A (p.Ala303Thr)	CRYM (A303T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 40 +2 more	GUncertain significance
Select item 44241	NM_001376256.1(CRYM):c.864C>G (p.Thr288=)	CRYM	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 40 +2 more	GBenign
Select item 178330	NM_001376256.1(CRYM):c.807T>C (p.Phe269=)	CRYM	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 179999	NM_001376256.1(CRYM):c.761C>T (p.Ala254Val)	CRYM (A254V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 40 +2 more	GConflicting classifications of pathogenicity
Select item 163002	NM_001376256.1(CRYM):c.741C>T (p.Tyr247=)	CRYM	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 40 +2 more	GBenign
Select item 227278	NM_001376256.1(CRYM):c.662C>T (p.Ala221Val)	CRYM (A221V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 179644	NM_001376256.1(CRYM):c.523_524delinsTT (p.Glu175Leu)	CRYM (E175L)	Indel (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 44240	NM_001376256.1(CRYM):c.490-12C>T	CRYM	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 179476	NM_001376256.1(CRYM):c.343A>G (p.Ile115Val)	CRYM (I115V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 44237	NM_001376256.1(CRYM):c.325-12T>C	CRYM	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 40 +2 more	GBenign
Select item 227277	NM_001376256.1(CRYM):c.279G>A (p.Gln93=)	CRYM	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 178331	NM_001376256.1(CRYM):c.108C>A (p.Ser36Arg)	CRYM, LOC130058620 (S36R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity