ClinVar for MedGen (Select 481290) - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065219	NM_001146079.2(CLDN14):c.639_645del (p.Ala215fs)	CLDN14, CLDN14-AS1 (A215fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 1676253	NM_001146079.2(CLDN14):c.664del (p.Ala222fs)	CLDN14, CLDN14-AS1 (A222fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 1301806	NM_001146079.2(CLDN14):c.523C>T (p.Leu175Phe)	CLDN14, CLDN14-AS1 (L175F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1065076	NM_001146079.2(CLDN14):c.364G>A (p.Gly122Ser)	CLDN14, CLDN14-AS1 (G122S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 994398	NM_001146079.2(CLDN14):c.430G>A (p.Val144Met)	CLDN14, CLDN14-AS1 (V144M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 898997	NM_001146079.2(CLDN14):c.-5G>A	CLDN14, CLDN14-AS1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 29 +1 more	GConflicting classifications of pathogenicity
Select item 898996	NM_001146079.2(CLDN14):c.129C>T (p.Ala43=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 898995	NM_001146079.2(CLDN14):c.262T>C (p.Cys88Arg)	CLDN14, CLDN14-AS1 (C88R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 897927	NM_001146079.2(CLDN14):c.-531G>A	CLDN14, CLDN14-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 897926	NM_001146079.2(CLDN14):c.-445G>A	CLDN14, CLDN14-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 897925	NM_001146079.2(CLDN14):c.-436G>A	CLDN14, CLDN14-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 897924	NM_001146079.2(CLDN14):c.-426C>T	CLDN14, CLDN14-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 897845	NM_001146079.2(CLDN14):c.513G>C (p.Ser171=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 896238	NM_001146079.2(CLDN14):c.578C>T (p.Pro193Leu)	CLDN14, CLDN14-AS1 (P193L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 896237	NM_001146079.2(CLDN14):c.681G>A (p.Ser227=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 29 +1 more	GConflicting classifications of pathogenicity
Select item 895962	NM_001146079.2(CLDN14):c.*48G>A	CLDN14, CLDN14-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 895961	NM_001146079.2(CLDN14):c.*66G>A	CLDN14, CLDN14-AS1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 895960	NM_001146079.2(CLDN14):c.*222T>C	CLDN14, CLDN14-AS1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 895959	NM_144492.2(CLDN14):c.*356T>C	CLDN14, CLDN14-AS1	Single nucleotide variant (non-coding transcript variant)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 894861	NM_001146079.2(CLDN14):c.-130G>A	CLDN14, CLDN14-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 894860	NM_001146079.2(CLDN14):c.-82+2044A>C	CLDN14, CLDN14-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 894859	NM_001146079.2(CLDN14):c.-76C>T	CLDN14, CLDN14-AS1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 599168	NM_001146079.2(CLDN14):c.191G>A (p.Cys64Tyr)	CLDN14, CLDN14-AS1 (C64Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 29	GLikely pathogenic
Select item 375673	NM_152524.5:c.1453_1454delGA,NM_012130.3:c.254T>A	CLDN14, CLDN14-AS1 +1 more (V85D +1 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome	GPathogenic
Select item 339908	NM_001146079.2(CLDN14):c.-645G>T	CLDN14, CLDN14-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 339907	NM_001146079.2(CLDN14):c.-634G>A	CLDN14, CLDN14-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 339906	NM_001146079.2(CLDN14):c.-492C>T	CLDN14, CLDN14-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 339905	NM_001146079.2(CLDN14):c.-390G>A	CLDN14, CLDN14-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 339904	NM_001146079.2(CLDN14):c.-337C>G	CLDN14, CLDN14-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 339903	NM_001146079.2(CLDN14):c.-297G>A	CLDN14, CLDN14-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 339902	NM_001146079.2(CLDN14):c.-290A>G	CLDN14-AS1, CLDN14	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 29 +1 more	GBenign
Select item 339901	NM_001146079.2(CLDN14):c.-264G>C	CLDN14, CLDN14-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 29 +1 more	GBenign
Select item 339900	NM_001146079.2(CLDN14):c.-242C>T	CLDN14, CLDN14-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 339899	NM_001146079.2(CLDN14):c.-187C>T	CLDN14, CLDN14-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 339898	NM_001146079.2(CLDN14):c.-136G>A	CLDN14, CLDN14-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 339897	NM_001146079.2(CLDN14):c.-82+9G>C	CLDN14, CLDN14-AS1	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 339896	NM_001146079.2(CLDN14):c.-82+2024G>A	CLDN14, CLDN14-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 29 +1 more	GLikely benign
Select item 339895	NM_001146079.2(CLDN14):c.-75G>T	CLDN14, CLDN14-AS1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 339894	NM_001146079.2(CLDN14):c.-54G>A	CLDN14, CLDN14-AS1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 339893	NM_001146079.2(CLDN14):c.-46G>A	CLDN14, CLDN14-AS1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 29 +1 more	GConflicting classifications of pathogenicity
Select item 339892	NM_001146079.2(CLDN14):c.96G>C (p.Arg32Ser)	CLDN14, CLDN14-AS1 (R32S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 339891	NM_001146079.2(CLDN14):c.295G>A (p.Val99Ile)	CLDN14, CLDN14-AS1 (V99I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 339890	NM_001146079.2(CLDN14):c.378C>G (p.Ile126Met)	CLDN14, CLDN14-AS1 (I126M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 339889	NM_001146079.2(CLDN14):c.450G>T (p.Pro150=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 339888	NM_001146079.2(CLDN14):c.522G>A (p.Ser174=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 29 +1 more	GConflicting classifications of pathogenicity
Select item 339887	NM_001146079.2(CLDN14):c.535A>G (p.Thr179Ala)	CLDN14, CLDN14-AS1 (T179A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 29	GUncertain significance
Select item 339886	NM_001146079.2(CLDN14):c.587C>T (p.Ala196Val)	CLDN14, CLDN14-AS1 (A196V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 29 +1 more	GUncertain significance
Select item 339885	NM_001146079.2(CLDN14):c.*51G>A	CLDN14, CLDN14-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 339884	NM_001146079.2(CLDN14):c.*107G>A	CLDN14, CLDN14-AS1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 29 +1 more	GUncertain significance
Select item 290065	NM_001146079.2(CLDN14):c.321C>T (p.Cys107=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 228519	NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val)	CLDN14, CLDN14-AS1 (A163V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 196574	NM_001146079.2(CLDN14):c.*10G>C	CLDN14, CLDN14-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 189333	NM_001146079.2(CLDN14):c.694G>A (p.Gly232Arg)	CLDN14, CLDN14-AS1 (G232R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 29	GPathogenic/Likely pathogenic
Select item 189332	NM_001146079.2(CLDN14):c.167G>A (p.Trp56Ter)	CLDN14, CLDN14-AS1 (W56*)	Single nucleotide variant (nonsense)	CLDN14-related disorder	GPathogenic
Select item 189331	NM_001146079.2(CLDN14):c.242G>A (p.Arg81His)	CLDN14-AS1, CLDN14 (R81H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 178603	NM_001146079.2(CLDN14):c.300C>T (p.Ile100=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 162967	NM_001146079.2(CLDN14):c.369C>A (p.Thr123=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 64487	NM_001146079.2(CLDN14):c.18G>A (p.Val6=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 29 +1 more	GConflicting classifications of pathogenicity
Select item 44089	NM_001146079.2(CLDN14):c.690C>T (p.His230=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 44088	NM_001146079.2(CLDN14):c.687G>A (p.Thr229=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 44087	NM_001146079.2(CLDN14):c.63G>A (p.Thr21=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 44086	NM_001146079.2(CLDN14):c.633C>T (p.Tyr211=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 29 +2 more	GBenign
Select item 44085	NM_001146079.2(CLDN14):c.621C>T (p.Thr207=)	CLDN14-AS1, CLDN14	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 44084	NM_001146079.2(CLDN14):c.243C>T (p.Arg81=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 44083	NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met)	CLDN14, CLDN14-AS1 (T4M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 4852	NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg)	CLDN14, CLDN14-AS1 (G101R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 29 +1 more	GConflicting classifications of pathogenicity
Select item 4851	NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp)	CLDN14, CLDN14-AS1 (V85D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 29	GPathogenic
Select item 4850	NM_001146079.2(CLDN14):c.398del (p.Met133fs)	CLDN14, CLDN14-AS1 (M133fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 29	GPathogenic

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Items: 68