23562[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	NCAM2, NDUFV3 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	PDE9A-AS1, PDXK +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	LOC130066843, LOC130066844 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653343, LOC126653344 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	LINC00315, LINC00316 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	ATP5PF, ATP5PO +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653350, LOC126653351 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LINC00111, LINC00112 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	ADAMTS1, ADAMTS5 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	TSPEAR-AS1, TSPEAR-AS2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066578, LOC130066579 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	LOC126653316, LOC126653317 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	LOC130066758, LOC130066759 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	LOC130066717, LOC130066718 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC125418051, LOC125418052 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	ABCG1, ADAMTS1 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	HSF2BP, HSPA13 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LOC130066756, LOC130066757 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	KRTAP12-3, KRTAP12-4 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC107403153, LOC107548109 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SON, SPATC1L +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066735, LOC130066736 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 146086	GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1	B3GALT5, B3GALT5-AS1 +177 more	Copy number loss	See cases	GPathogenic
Select item 144137	GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)x1	CBR1, CBR1-AS1 +110 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 59249	GRCh38/hg38 21q22.12-22.2(chr21:36396699-38951223)x3	CHAF1B, CLDN14 +99 more	Copy number gain	See cases	GPathogenic
Select item 895959	NR_183532.1(CLDN14-AS1):n.799A>G	CLDN14-AS1, CLDN14	Single nucleotide variant (non-coding transcript 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 1189276	NM_001146079.2(CLDN14):c.*214dup	CLDN14, CLDN14-AS1	Duplication (3 prime UTR variant)	not provided	GLikely 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	GUncertain significance
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 339885	NM_001146079.2(CLDN14):c.*51G>A	CLDN14, CLDN14-AS1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 29 +1 more	GBenign/Likely benign
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 196574	NM_001146079.2(CLDN14):c.*10G>C	CLDN14, CLDN14-AS1	Single nucleotide variant (3 prime UTR variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2189001	NM_001146079.2(CLDN14):c.715G>A (p.Val239Met)	CLDN14, CLDN14-AS1 (V239M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 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 specified +2 more	GBenign
Select item 896237	NM_001146079.2(CLDN14):c.681G>A (p.Ser227=)	CLDN14-AS1, CLDN14	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 64489	NM_001146079.2(CLDN14):c.663G>A (p.Arg221=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2364068	NM_001146079.2(CLDN14):c.661C>G (p.Arg221Gly)	CLDN14, CLDN14-AS1 (R221G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1684101	NM_001146079.2(CLDN14):c.661C>T (p.Arg221Trp)	CLDN14, CLDN14-AS1 (R221W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044961	NM_001146079.2(CLDN14):c.653A>G (p.Lys218Arg)	CLDN14, CLDN14-AS1 (K218R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3145466	NM_001146079.2(CLDN14):c.646G>T (p.Ala216Ser)	CLDN14, CLDN14-AS1 (A216S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 1400729	NM_001146079.2(CLDN14):c.626C>T (p.Pro209Leu)	CLDN14, CLDN14-AS1 (P209L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022968	NM_001146079.2(CLDN14):c.622G>A (p.Ala208Thr)	CLDN14, CLDN14-AS1 (A208T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44085	NM_001146079.2(CLDN14):c.621C>T (p.Thr207=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	CLDN14-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2543824	NM_001146079.2(CLDN14):c.614C>T (p.Ala205Val)	CLDN14, CLDN14-AS1 (A205V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 754785	NM_001146079.2(CLDN14):c.606G>C (p.Thr202=)	CLDN14-AS1, CLDN14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1896199	NM_001146079.2(CLDN14):c.605C>T (p.Thr202Met)	CLDN14, CLDN14-AS1 (T202M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166295	NM_001146079.2(CLDN14):c.603C>A (p.Thr201=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748472	NM_001146079.2(CLDN14):c.591G>A (p.Pro197=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074442	NM_001146079.2(CLDN14):c.548_588dup (p.Pro197fs)	CLDN14, CLDN14-AS1 (P197fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2903779	NM_001146079.2(CLDN14):c.588C>A (p.Ala196=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1588462	NM_001146079.2(CLDN14):c.588C>G (p.Ala196=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3145465	NM_001146079.2(CLDN14):c.580T>C (p.Tyr194His)	CLDN14, CLDN14-AS1 (Y194H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3145464	NM_001146079.2(CLDN14):c.569C>T (p.Pro190Leu)	CLDN14, CLDN14-AS1 (P190L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2683553	NM_001146079.2(CLDN14):c.562G>A (p.Glu188Lys)	CLDN14, CLDN14-AS1 (E188K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 228520	NM_001146079.2(CLDN14):c.559G>T (p.Asp187Tyr)	CLDN14, CLDN14-AS1 (D187Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1551166	NM_001146079.2(CLDN14):c.549G>A (p.Leu183=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 684204	NM_001146079.2(CLDN14):c.525C>T (p.Leu175=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2876291	NM_001146079.2(CLDN14):c.513G>A (p.Ser171=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1928989	NM_001146079.2(CLDN14):c.512C>T (p.Ser171Leu)	CLDN14, CLDN14-AS1 (S171L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 505062	NM_001146079.2(CLDN14):c.505A>G (p.Ile169Val)	CLDN14, CLDN14-AS1 (I169V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 227253	NM_001146079.2(CLDN14):c.495C>T (p.Tyr165=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1314704	NM_001146079.2(CLDN14):c.490C>A (p.Leu164Met)	CLDN14-AS1, CLDN14 (L164M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 162966	NM_001146079.2(CLDN14):c.471G>A (p.Lys157=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1473507	NM_001146079.2(CLDN14):c.463G>A (p.Gly155Ser)	CLDN14, CLDN14-AS1 (G155S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810054	NM_001146079.2(CLDN14):c.462C>A (p.Ser154Arg)	CLDN14, CLDN14-AS1 (S154R)	Single nucleotide variant (missense variant)	not provided	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 257579	NM_001146079.2(CLDN14):c.450G>A (p.Pro150=)	CLDN14, CLDN14-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 1344632	NM_001146079.2(CLDN14):c.427G>A (p.Val143Met)	CLDN14, CLDN14-AS1 (V143M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304003	NM_001146079.2(CLDN14):c.424G>A (p.Asp142Asn)	CLDN14, CLDN14-AS1 (D142N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2552512	NM_001146079.2(CLDN14):c.416C>T (p.Thr139Ile)	CLDN14, CLDN14-AS1 (T139I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1810013	NM_001146079.2(CLDN14):c.414G>A (p.Trp138Ter)	CLDN14, CLDN14-AS1 (W138*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 287605	NM_001146079.2(CLDN14):c.406G>A (p.Val136Ile)	CLDN14, CLDN14-AS1 (V136I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2250275	NM_001146079.2(CLDN14):c.403G>T (p.Ala135Ser)	CLDN14, CLDN14-AS1 (A135S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 497748	NM_001146079.2(CLDN14):c.401del (p.Val134fs)	CLDN14, CLDN14-AS1 (V134fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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
Select item 2574288	NM_001146079.2(CLDN14):c.397A>G (p.Met133Val)	CLDN14, CLDN14-AS1 (M133V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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