ClinVar for MedGen (Select 350211) - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255070	NM_153700.2(STRC):c.2539G>A (p.Ala847Thr)	STRC (A847T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 16	GUncertain significance
Select item 3254742	NM_153700.2(STRC):c.5060C>A (p.Ala1687Asp)	STRC (A1687D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 16	GUncertain significance
Select item 3252030	NM_153700.2(STRC):c.4819C>T (p.Gln1607Ter)	STRC (Q1607*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 3250402	NM_153700.2(STRC):c.5185C>T (p.Arg1729Ter)	STRC (R1729*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
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 2445652	NM_153700.2(STRC):c.1469T>C (p.Leu490Pro)	STRC (L490P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 16	GLikely pathogenic
Select item 2445651	NM_153700.2(STRC):c.2545C>T (p.Arg849Ter)	STRC (R849*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
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 1687399	NM_153700.2(STRC):c.583C>T (p.Gln195Ter)	STRC (Q195*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 1325151	NM_153700.2(STRC):c.4510del (p.Glu1504fs)	STRC (E1504fs)	Deletion (frameshift variant)	Rare genetic deafness +1 more	GPathogenic/Likely 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 1185131	NM_153700.2(STRC):c.4765G>T (p.Val1589Phe)	STRC (V1589F)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 16	GUncertain significance
Select item 1185096	NM_153700.2(STRC):c.64+1_3138+1del	STRC	Deletion (splice acceptor variant +1 more)	Autosomal recessive nonsyndromic hearing loss 16	GLikely pathogenic
Select item 1185095	NM_153700.2(STRC):c.3557_5328del (p.Gln1186fs)	STRC (Q1186fs)	Deletion (frameshift variant +2 more)	Autosomal recessive nonsyndromic hearing loss 16	GLikely pathogenic
Select item 1175707	NC_000015.9:g.(43851199_43890391)_(?_44038820)del	CATSPER2, CKMT1A +4 more	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 1175705	NC_000015.9:g.(43851199_43890333)_(43897676_43924279)del	CATSPER2, CKMT1B +2 more	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 1174526	NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del	CATSPER2, CKMT1A +4 more	Deletion	Autosomal recessive nonsyndromic hearing loss 16 +1 more	GPathogenic/Likely pathogenic
Select item 1120110	NM_153700.2(STRC):c.22CTG[10] (p.Leu18del)	STRC (L18del)	Microsatellite (inframe_deletion)	not specified +2 more	GBenign
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 817586	NM_153700.2(STRC):c.4251del (p.Leu1417_Leu1418insTer)	STRC	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 813830	15q15.3 deletion	STRC	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
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 692158	NM_153700.2(STRC):c.3499_4701+1del	STRC	Deletion (splice acceptor variant +1 more)	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 666761	NM_153700.2(STRC):c.3681+11G>A	STRC	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 666606	NM_153700.2(STRC):c.3794C>T (p.Pro1265Leu)	STRC (P1265L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 16 +1 more	GConflicting classifications of pathogenicity
Select item 627479	NM_153700.2(STRC):c.4564G>T (p.Gly1522Ter)	STRC (G1522*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 16	GLikely pathogenic
Select item 625830	GRCh37/hg19 15q15.3(chr15:43890409-43939642)	CATSPER2, CKMT1B +1 more	Copy number loss	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 625827	GRCh37/hg19 15q15.3(chr15:43891364-43939659)	CATSPER2, CKMT1B +1 more	Copy number loss	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 623234	NM_153700.2(STRC):c.4543C>T (p.Gln1515Ter)	STRC (Q1515*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 16	GLikely pathogenic
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 618400	NM_153700.2(STRC):c.4012C>T (p.Arg1338Ter)	STRC (R1338*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 16 +1 more	GPathogenic/Likely pathogenic
Select item 618399	NM_153700.2(STRC):c.3460C>T (p.Arg1154Ter)	STRC (R1154*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 16 +1 more	GPathogenic/Likely pathogenic
Select item 562140	NC_000015.9:g.(43886857_43888004)_(43984930_43992627)del	CATSPER2, CKMT1A +4 more	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 560061	Single allele	CATSPER2, LOC130056948 +2 more	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
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 505435	NM_153700.2(STRC):c.4219-1G>A	STRC	Single nucleotide variant (splice acceptor variant)	Rare genetic deafness +4 more	GPathogenic/Likely pathogenic
Select item 505325	NM_153700.2(STRC):c.379C>T (p.Arg127Ter)	STRC (R127*)	Single nucleotide variant (nonsense)	Rare genetic deafness	GPathogenic
Select item 505196	NM_153700.2(STRC):c.5200T>C (p.Trp1734Arg)	STRC (W1734R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 505036	NM_153700.2(STRC):c.2303_2313+1del	STRC	Microsatellite (splice donor variant)	not provided	GUncertain significance
Select item 499237	NM_153700.2(STRC):c.4837G>T (p.Glu1613Ter)	STRC (E1613*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 448908	NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter)	STRC (Q1343*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 16 +1 more	GPathogenic/Likely pathogenic
Select item 445408	NM_153700.2(STRC):c.4127+8C>T	STRC	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 16 +2 more	GBenign/Likely benign
Select item 440309	NM_153700.2(STRC):c.274C>T (p.Arg92Trp)	STRC (R92W)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 16 +1 more	GUncertain significance
Select item 424817	NM_153700.2(STRC):c.[4057C>T];[4171C>G]			Autosomal dominant nonsyndromic hearing loss 16	GPathogenic
Select item 417924	NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe)	STRC (L1640F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 388811	NM_153700.2(STRC):c.4845C>T (p.Ser1615=)	STRC	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 242391	NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter)	STRC (Q1353*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 228402	NM_153700.2(STRC):c.3217C>T (p.Arg1073Ter)	STRC (R1073*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 16 +1 more	GPathogenic
Select item 227966	NM_153700.2(STRC):c.3555G>A (p.Leu1185=)	STRC	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 16 +2 more	GLikely benign
Select item 227965	NM_153700.2(STRC):c.3540T>G (p.Leu1180=)	STRC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 227082	NM_153700.2(STRC):c.3360T>C (p.Cys1120=)	STRC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 212742	NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter)	STRC (R1451*)	Single nucleotide variant (nonsense)	Deafness-infertility syndrome +1 more	GPathogenic/Likely pathogenic
Select item 179758	NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter)	STRC (R1468*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 178635	NM_153700.2(STRC):c.4845-13T>C	STRC	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 178634	NM_153700.2(STRC):c.4878C>G (p.Leu1626=)	STRC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 177982	NM_153700.2(STRC):c.4842C>T (p.Phe1614=)	STRC	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 16 +2 more	GBenign
Select item 165324	NM_153700.2(STRC):c.498G>A (p.Pro166=)	STRC	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 16 +2 more	GBenign/Likely benign
Select item 165320	NM_153700.2(STRC):c.3218G>A (p.Arg1073Gln)	STRC (R1073Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 16 +2 more	GUncertain significance
Select item 165318	NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr)	STRC (C1092Y)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 165317	NM_153700.2(STRC):c.3307-5T>G	STRC	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 165315	NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter)	STRC (R1224*)	Single nucleotide variant (nonsense)	Deafness-infertility syndrome +4 more	GPathogenic
Select item 165313	NM_153700.2(STRC):c.3702G>A (p.Glu1234=)	STRC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 165312	NM_153700.2(STRC):c.3893A>G (p.His1298Arg)	STRC (H1298R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 165311	NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly)	STRC (R1391G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 16 +3 more	GConflicting classifications of pathogenicity
Select item 165308	NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys)	STRC (W1475C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 165307	NM_153700.2(STRC):c.4035G>C (p.Leu1345=)	STRC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 165305	NM_153700.2(STRC):c.4701+1G>A	STRC	Single nucleotide variant (splice donor variant)	Rare genetic deafness +1 more	GPathogenic/Likely pathogenic
Select item 165302	NM_153700.2(STRC):c.4796_4800del (p.Cys1599fs)	STRC (C1599fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 16 +1 more	GPathogenic
Select item 165301	NC_000015.10:g.43600609_43600610delinsAG	STRC	Indel	not provided +3 more	GConflicting classifications of pathogenicity
Select item 165298	NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter)	STRC (R1730*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 16 +2 more	GPathogenic/Likely pathogenic
Select item 156030	NM_153700.2(STRC):c.179T>C (p.Phe60Ser)	STRC (F60S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 4345	NC_000015.10:g.(?_43599438)_(43608225_43613711)del	STRC	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 4344	NM_153700.2(STRC):c.2171_2174del (p.Val724fs)	STRC (V724fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 16 +1 more	GPathogenic
Select item 4343	NM_153700.2(STRC):c.3156dup (p.Cys1053fs)	STRC (C1053fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic

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Items: 80