Related gene-specific medical variations for Gene (Select 161497) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582669	NM_153700.2(STRC):c.4484_4485del (p.Phe1495fs)	STRC (F1495fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 2582668	NM_153700.2(STRC):c.4096G>T (p.Gly1366Ter)	STRC (G1366*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 2582667	NM_153700.2(STRC):c.3823G>T (p.Glu1275Ter)	STRC (E1275*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 2582666	NM_153700.2(STRC):c.1768T>C (p.Cys590Arg)	STRC (C590R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 16	GLikely pathogenic
Select item 1800456	NC_000015.10:g.(?_43890333)_(43940887_?)del	FRMD5, STRC	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 1799546	NC_000015.10:g.(?_43890333)_(43893072_?)del	FRMD5, STRC	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 1799545	NC_000015.10:g.(?_43890333)_(43897714_?)del	FRMD5, STRC	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 1799544	NC_000015.10:g.(?_43906612)_(43906674_)?del	STRC	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GLikely pathogenic
Select item 1323655	NM_153700.2(STRC):c.3958G>T (p.Glu1320Ter)	STRC (E1320*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 1065072	NM_153700.2:c.(?_1)_(5328_?)del	STRC	Deletion	Hearing impairment	GPathogenic
Select item 1065049	NM_153700.2:c.(?_3499)_(4993_?)del	STRC	Deletion	Hearing impairment	GPathogenic
Select item 973187	GRCh37/hg19 15q15.3(chr15:43892948-43895542)x1	STRC	Copy number loss	Autosomal recessive nonsyndromic hearing loss 16	Gnot provided
Select item 973186	GRCh37/hg19 15q15.3(chr15:43892807-43895810)x1	STRC	Copy number loss	not provided	Gnot provided
Select item 813830	15q15.3 deletion	STRC	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 812158	NM_153700.2(STRC):c.3091C>A (p.Pro1031Thr)	STRC (P1031T)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
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 520412	NM_153700.2(STRC):c.1576C>T (p.Arg526Cys)	STRC (R526C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 16	GUncertain significance
Select item 236065	15q15.3 deletion	STRC	Deletion	Autosomal dominant nonsyndromic hearing loss 16	GPathogenic