"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "STRC"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 505381	NM_153700.2(STRC):c.5125A>G (p.Thr1709Ala)	STRC (T1709A)	Single nucleotide variant (missense variant)	Rare genetic deafness +1 more	GLikely pathogenic
Select item 165308	NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys)	STRC (W1475C)	Single nucleotide variant (missense variant)	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic
Select item 505435	NM_153700.2(STRC):c.4219-1G>A	STRC	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 16 +4 more	GPathogenic/Likely pathogenic
Select item 165311	NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly)	STRC (R1391G)	Single nucleotide variant (missense variant)	Rare genetic deafness +3 more	GConflicting classifications of pathogenicity
Select item 165318	NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr)	STRC (C1092Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 16 +5 more	GUncertain significance
Select item 165320	NM_153700.2(STRC):c.3218G>A (p.Arg1073Gln)	STRC (R1073Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 229276	NM_153700.2(STRC):c.2494C>T (p.Arg832Trp)	STRC (R832W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3380271	NM_153700.2(STRC):c.2480+3A>G	STRC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2683302	NM_153700.2(STRC):c.1919C>A (p.Ala640Asp)	STRC (A640D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683303	NM_153700.2(STRC):c.1753G>A (p.Gly585Arg)	STRC (G585R)	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
Select item 506243	NM_153700.2(STRC):c.995C>G (p.Ser332Cys)	STRC (S332C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance