"Athena Diagnostics"[submitter] AND "STRC"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 505196	NM_153700.2(STRC):c.5200T>C (p.Trp1734Arg)	STRC (W1734R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 16 +2 more	GBenign/Likely benign
Select item 417924	NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe)	STRC (L1640F)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 16 +1 more	GConflicting classifications of pathogenicity
Select item 805531	NM_153700.2(STRC):c.4917A>C (p.Leu1639=)	STRC	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 16 +3 more	GBenign/Likely benign
Select item 618401	NM_153700.2(STRC):c.4675C>T (p.Gln1559Ter)	STRC (Q1559*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 16 +1 more	GLikely pathogenic
Select item 805530	NM_153700.2(STRC):c.4472G>T (p.Cys1491Phe)	STRC (C1491F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805529	NM_153700.2(STRC):c.4237A>T (p.Thr1413Ser)	STRC (T1413S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 227966	NM_153700.2(STRC):c.3555G>A (p.Leu1185=)	STRC	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 227965	NM_153700.2(STRC):c.3540T>G (p.Leu1180=)	STRC	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 16 +2 more	GBenign/Likely benign
Select item 805528	NM_153700.2(STRC):c.2640G>T (p.Glu880Asp)	STRC (E880D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 805527	NM_153700.2(STRC):c.2344C>T (p.Arg782Cys)	STRC (R782C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805526	NM_153700.2(STRC):c.1466G>C (p.Ser489Thr)	STRC (S489T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance