"PreventionGenetics, part of Exact Sciences"[submitter] AND "CRYM"[gen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058056	NM_001376256.1(CRYM):c.3_6del (p.Ter315=)	CRYM	Deletion (no sequence alteration)	CRYM-related disorder	GLikely benign
Select item 44241	NM_001376256.1(CRYM):c.864C>G (p.Thr288=)	CRYM	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1272764	NM_001376256.1(CRYM):c.820G>C (p.Glu274Gln)	CRYM (E274Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3029841	NM_001376256.1(CRYM):c.778G>C (p.Asp260His)	CRYM (D260H)	Single nucleotide variant (missense variant)	CRYM-related disorder	GUncertain significance
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 785526	NM_001376256.1(CRYM):c.524A>T (p.Glu175Val)	CRYM (E175V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 40 +2 more	GBenign/Likely benign
Select item 785527	NM_001376256.1(CRYM):c.523G>T (p.Glu175Ter)	CRYM (E175*)	Single nucleotide variant (nonsense)	CRYM-related disorder +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 498287	NM_001376256.1(CRYM):c.474G>A (p.Gln158=)	CRYM	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3034801	NM_001376256.1(CRYM):c.360A>G (p.Thr120=)	CRYM	Single nucleotide variant (synonymous variant)	CRYM-related disorder	GLikely benign
Select item 44237	NM_001376256.1(CRYM):c.325-12T>C	CRYM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign