ClinVar for Gene (Select 9071) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338383	NM_006984.5(CLDN10):c.497G>A (p.Trp166Ter)	CLDN10 (W145* +2 more)	Single nucleotide variant (nonsense)	HELIX syndrome	GPathogenic
Select item 3267586	NM_006984.5(CLDN10):c.647C>T (p.Thr216Ile)	CLDN10 (T195I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267585	NM_006984.5(CLDN10):c.442G>A (p.Asp148Asn)	CLDN10 (D146N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3236047	NM_006984.5(CLDN10):c.142A>C (p.Asn48His)	CLDN10 (N48H)	Single nucleotide variant (missense variant +1 more)	HELIX syndrome	GLikely pathogenic
Select item 3145460	NM_006984.5(CLDN10):c.649A>C (p.Asn217His)	CLDN10 (N217H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145459	NM_006984.5(CLDN10):c.371T>C (p.Phe124Ser)	CLDN10 (F103S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145458	NM_006984.5(CLDN10):c.35T>C (p.Met12Thr)	CLDN10 (M12T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3145457	NM_006984.5(CLDN10):c.127G>T (p.Ala43Ser)	CLDN10 (A43S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 3044485	NM_006984.5(CLDN10):c.228A>C (p.Ile76=)	CLDN10	Single nucleotide variant (synonymous variant)	CLDN10-related disorder	GBenign
Select item 3043902	NM_006984.5(CLDN10):c.402A>C (p.Gly134=)	CLDN10	Single nucleotide variant (synonymous variant)	CLDN10-related disorder	GBenign
Select item 2685478	GRCh37/hg19 13q31.2-33.2(chr13:89012420-106371634)x1	PCCA, POGLUT2 +50 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ANKRD10, ANKRD10-IT1 +98 more	Copy number loss	not provided	GPathogenic
Select item 2685473	GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1	ABCC4, ACOD1 +78 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	GPR18, GRTP1 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 2643876	NM_006984.5(CLDN10):c.610C>T (p.Arg204Trp)	CLDN10 (R183W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574668	NM_006984.5(CLDN10):c.138G>A (p.Trp46Ter)	CLDN10 (W46*)	Single nucleotide variant	HELIX syndrome	GPathogenic
Select item 2537592	NM_006984.5(CLDN10):c.198C>A (p.Phe66Leu)	CLDN10 (F66L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508566	NM_006984.5(CLDN10):c.620A>G (p.Tyr207Cys)	CLDN10 (Y186C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464551	NM_006984.5(CLDN10):c.256G>T (p.Ala86Ser)	CLDN10 (A65S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446726	GRCh37/hg19 13q32.1-33.2(chr13:95700999-105271065)x3	DZIP1, ERCC5 +35 more	Copy number gain	See cases	GPathogenic
Select item 2425403	NC_000013.10:g.(?_93879710)_(96443284_?)dup	ABCC4, CLDN10 +7 more	Duplication	not provided	GUncertain significance
Select item 2408388	NM_006984.5(CLDN10):c.62T>C (p.Val21Ala)	CLDN10 (V21A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364803	NM_182848.4(CLDN10):c.101C>T (p.Ala34Val)	CLDN10 (A34V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316990	NM_006984.5(CLDN10):c.242G>A (p.Gly81Glu)	CLDN10 (G79E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281280	NM_006984.5(CLDN10):c.554A>G (p.Asp185Gly)	CLDN10 (D185G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220660	NM_006984.5(CLDN10):c.358G>T (p.Ala120Ser)	CLDN10 (A118S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214496	NM_006984.5(CLDN10):c.271T>C (p.Phe91Leu)	CLDN10 (F91L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809084	GRCh37/hg19 13q32.1(chr13:95924584-96152615)x3	ABCC4, CLDN10	Copy number gain	not provided	GUncertain significance
Select item 1808585	GRCh37/hg19 13q32.1(chr13:96125428-96424697)x3	CLDN10, DNAJC3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808276	GRCh37/hg19 13q31.3-33.2(chr13:93535335-105788229)x1	BIVM-ERCC5, CCDC168 +40 more	Copy number loss	not provided	GPathogenic
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1807644	GRCh37/hg19 13q32.1(chr13:95925875-96154583)x3	ABCC4, CLDN10	Copy number gain	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1707439	GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3	ABCC4, ABHD13 +93 more	Copy number gain	See cases	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527790	GRCh37/hg19 13q32.1-32.3(chr13:95677119-100521192)	ABCC4, CLDN10 +18 more	Copy number loss	not specified	GUncertain significance
Select item 1527788	GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)	ABCC4, ABHD13 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	ABCC4, ABHD13 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	DCUN1D2, ERCC5 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	MIR18A, MIR19A +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ACOD1, ADPRHL1 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1411402	NC_000013.10:g.(?_95034648)_(96443284_?)dup	ABCC4, CLDN10 +7 more	Duplication	not provided	GUncertain significance
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	GTF2F2, PRR20D +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1283407	NM_182848.4(CLDN10):c.-78A>G	CLDN10	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1278746	NM_006984.5(CLDN10):c.220+106C>T	CLDN10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271447	NM_006984.5(CLDN10):c.*11T>G	CLDN10	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1268459	NC_000013.11:g.95433626C>A	CLDN10	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1240911	NM_006984.5(CLDN10):c.220+132A>C	CLDN10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238473	NM_182848.4(CLDN10):c.215-7613del	CLDN10	Deletion (intron variant)	not provided	GBenign
Select item 1222730	NM_182848.4(CLDN10):c.215-7578G>A	CLDN10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183412	NM_182848.4(CLDN10):c.214+179C>T	CLDN10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178916	NC_000013.11:g.95433431C>T	CLDN10	Single nucleotide variant	not provided	GBenign
Select item 1077192	Single allele	ITGBL1, LIG4 +58 more	Deletion	Distal monosomy 13q	GPathogenic
Select item 1074668	NC_000013.10:g.(?_92002837)_(103343314_?)del	ABCC4, CLDN10 +41 more	Deletion	Holoprosencephaly 5	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 979989	GRCh37/hg19 13q32.1(chr13:96225567-96456089)x3	CLDN10, UGGT2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 974823	NM_006984.5(CLDN10):c.653del (p.Pro218fs)	CLDN10 (P197fs +2 more)	Deletion (frameshift variant)	HELIX syndrome	GPathogenic/Likely pathogenic
Select item 815611	GRCh37/hg19 13q31.3-32.1(chr13:94896219-96993668)x3	ABCC4, HS6ST3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	CDC16, NALCN +142 more	Copy number loss	not provided	GPathogenic
Select item 694635	NM_006984.5(CLDN10):c.431C>T (p.Thr144Met)	CLDN10 (T123M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 688855	GRCh37/hg19 13q32.1(chr13:95926571-96152630)x3	ABCC4, CLDN10	Copy number gain	not provided	GUncertain significance
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687978	GRCh37/hg19 13q32.1(chr13:95924583-96154644)x3	ABCC4, CLDN10	Copy number gain	not provided	GUncertain significance
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 687002	GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3	ABCC4, ABHD13 +86 more	Copy number gain	not provided	GUncertain significance
Select item 564082	GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3	ABCC4, ABHD13 +103 more	Copy number gain	not provided	GPathogenic
Select item 564081	GRCh37/hg19 13q31.3-33.3(chr13:94703767-109731879)x1	ABCC4, ABHD13 +49 more	Copy number loss	not provided	GPathogenic
Select item 564071	GRCh37/hg19 13q31.3-32.1(chr13:93348248-96975820)x3	GPC5, SOX21 +10 more	Copy number gain	not provided	GUncertain significance
Select item 564061	GRCh37/hg19 13q31.3-32.1(chr13:94857382-96639428)x3	SOX21, DCT +8 more	Copy number gain	not provided	GUncertain significance
Select item 564015	GRCh37/hg19 13q32.1(chr13:95924583-96152615)x3	ABCC4, CLDN10	Copy number gain	not provided	GUncertain significance
Select item 443522	GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3	ABCC4, ACOD1 +60 more	Copy number gain	See cases	GPathogenic
Select item 443213	GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	See cases	GPathogenic
Select item 442796	GRCh37/hg19 13q21.1-34(chr13:56431743-115107733)	ABCC4, ABHD13 +137 more	Copy number gain	See cases	GPathogenic
Select item 442647	GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1	ABCC4, ABHD13 +86 more	Copy number loss	See cases	GPathogenic
Select item 442311	GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3	TGDS, TM9SF2 +97 more	Copy number gain	See cases	GPathogenic
Select item 441797	GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3	ABCC4, ABHD13 +100 more	Copy number gain	See cases	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441737	GRCh37/hg19 13q31.1-33.3(chr13:80572498-108719528)x1	ABCC4, ARGLU1 +58 more	Copy number loss	See cases	GPathogenic
Select item 441662	GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4	ABCC4, ABHD13 +125 more	Copy number gain	See cases	GPathogenic
Select item 438638	NM_006984.5(CLDN10):c.2T>C (p.Met1Thr)	CLDN10 (M1T)	Single nucleotide variant (missense variant +2 more)	HELIX syndrome	GPathogenic
Select item 438637	NM_006984.5(CLDN10):c.392C>T (p.Ser131Leu)	CLDN10 (S131L +2 more)	Single nucleotide variant (missense variant)	HELIX syndrome	GPathogenic
Select item 438636	NM_006984.5(CLDN10):c.144C>G (p.Asn48Lys)	CLDN10 (N48K)	Single nucleotide variant (missense variant +1 more)	HELIX syndrome	GPathogenic
Select item 395478	GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1	MIR4500HG, MIR92A1 +102 more	Copy number loss	See cases	GPathogenic
Select item 395197	GRCh37/hg19 13q31.1-33.1(chr13:81851091-102864674)x1	ABCC4, CLDN10 +43 more	Copy number loss	See cases	GPathogenic
Select item 395156	GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3	ABCC4, ABHD13 +98 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 253491	GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1	ABCC4, ABHD13 +94 more	Copy number loss	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic

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