20908[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 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
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 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 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 more	Copy number gain	See cases	GPathogenic
Select item 57470	GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3	LOC126861817, LOC126861818 +344 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	ABCC4, ABHD13 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 150153	GRCh38/hg38 13q31.2-32.3(chr13:87944479-99866542)x1	LOC130010040, LOC130010041 +236 more	Copy number loss	See cases	GPathogenic
Select item 57678	GRCh38/hg38 13q31.2-32.3(chr13:88323009-98888644)x1	ABCC4, CLDN10 +168 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	ABCC4, ABHD13 +638 more	Copy number gain	See cases	GPathogenic
Select item 57679	GRCh38/hg38 13q31.3-32.1(chr13:89549510-96657834)x1	ABCC4, CLDN10 +88 more	Copy number loss	See cases	GPathogenic
Select item 147510	GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1	ABCC4, ABHD13 +348 more	Copy number loss	See cases	GPathogenic
Select item 57681	GRCh38/hg38 13q31.3-32.1(chr13:93571649-97428965)x1	ABCC4, CLDN10 +73 more	Copy number loss	See cases	GPathogenic
Select item 3086691	NM_198968.4(DZIP1):c.2593T>G (p.Ser865Ala)	DZIP1 (S846A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086690	NM_198968.4(DZIP1):c.2587G>A (p.Asp863Asn)	DZIP1 (D844N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588685	NM_198968.4(DZIP1):c.2581T>G (p.Trp861Gly)	DZIP1 (W861G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549384	NM_198968.4(DZIP1):c.2513C>T (p.Pro838Leu)	DZIP1 (P819L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086689	NM_198968.4(DZIP1):c.2440C>A (p.Pro814Thr)	DZIP1 (P795T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259812	NM_198968.4(DZIP1):c.2321T>A (p.Ile774Asn)	DZIP1 (I755N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352980	NM_198968.4(DZIP1):c.2308C>T (p.Pro770Ser)	DZIP1 (P751S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271683	NM_198968.4(DZIP1):c.2290G>T (p.Val764Phe)	DZIP1 (V745F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555577	NM_198968.4(DZIP1):c.2283C>G (p.Asn761Lys)	DZIP1 (N742K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086688	NM_198968.4(DZIP1):c.2276A>G (p.Asn759Ser)	DZIP1 (N740S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513090	NM_198968.4(DZIP1):c.2270G>A (p.Arg757His)	DZIP1 (R738H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2243015	NM_198968.4(DZIP1):c.2146A>C (p.Thr716Pro)	DZIP1 (T697P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274255	NM_198968.4(DZIP1):c.2057A>C (p.Gln686Pro)	DZIP1 (Q667P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086687	NM_198968.4(DZIP1):c.2020A>G (p.Thr674Ala)	DZIP1 (T674A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086686	NM_198968.4(DZIP1):c.2005C>T (p.Pro669Ser)	DZIP1 (P650S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486665	NM_198968.4(DZIP1):c.1992G>T (p.Met664Ile)	DZIP1 (M645I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776804	NM_198968.4(DZIP1):c.1990A>T (p.Met664Leu)	DZIP1 (M645L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3086685	NM_198968.4(DZIP1):c.1942G>A (p.Ala648Thr)	DZIP1 (A629T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281988	NM_198968.4(DZIP1):c.1934G>C (p.Arg645Thr)	DZIP1 (R626T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086684	NM_198968.4(DZIP1):c.1869T>G (p.Asp623Glu)	DZIP1 (D604E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086683	NM_198968.4(DZIP1):c.1865T>A (p.Met622Lys)	DZIP1 (M622K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250514	NM_198968.4(DZIP1):c.1812T>G (p.Cys604Trp)	DZIP1 (C585W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3086682	NM_198968.4(DZIP1):c.1748A>C (p.Lys583Thr)	DZIP1 (K564T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612869	NM_198968.4(DZIP1):c.1745A>G (p.His582Arg)	DZIP1 (H582R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393698	NM_198968.4(DZIP1):c.1727G>T (p.Ser576Ile)	DZIP1 (S557I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624326	NM_198968.4(DZIP1):c.1720C>A (p.Leu574Ile)	DZIP1 (L555I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510651	NM_198968.4(DZIP1):c.1717G>A (p.Val573Ile)	DZIP1 (V573I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086679	NM_198968.4(DZIP1):c.1688G>A (p.Arg563His)	DZIP1 (R563H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3347773	NM_198968.4(DZIP1):c.1490C>G (p.Ser497Trp)	DZIP1 (S478W +1 more)	Single nucleotide variant (missense variant)	DZIP1-related disorder	GUncertain significance
Select item 2242416	NM_198968.4(DZIP1):c.1490C>T (p.Ser497Leu)	DZIP1 (S478L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086678	NM_198968.4(DZIP1):c.1394C>T (p.Ser465Phe)	DZIP1 (S465F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466411	NM_198968.4(DZIP1):c.1172G>A (p.Arg391Gln)	DZIP1 (R391Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258399	NM_198968.4(DZIP1):c.1139C>G (p.Ala380Gly)	DZIP1 (A380G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398485	NM_198968.4(DZIP1):c.1094A>G (p.Gln365Arg)	DZIP1 (Q365R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274256	NM_198968.4(DZIP1):c.1064C>T (p.Pro355Leu)	DZIP1 (P355L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026157	NM_198968.4(DZIP1):c.1057C>T (p.Arg353Cys)	DZIP1 (R353C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2408674	NM_198968.4(DZIP1):c.1056C>A (p.Asp352Glu)	DZIP1 (D352E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2595027	NM_198968.4(DZIP1):c.950C>T (p.Ser317Leu)	DZIP1 (S317L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490459	NM_198968.4(DZIP1):c.916G>A (p.Glu306Lys)	DZIP1 (E306K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086693	NM_198968.4(DZIP1):c.821T>G (p.Met274Arg)	DZIP1 (M274R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086692	NM_198968.4(DZIP1):c.794C>G (p.Ala265Gly)	DZIP1 (A265G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 984962	NM_198968.4(DZIP1):c.690T>G (p.Tyr230Ter)	DZIP1 (Y230*)	Single nucleotide variant (nonsense)	Spermatogenic failure 47	GPathogenic
Select item 781123	NM_198968.4(DZIP1):c.666T>G (p.Thr222=)	DZIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2457243	NM_198968.4(DZIP1):c.629A>G (p.Gln210Arg)	DZIP1 (Q210R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588321	NM_198968.4(DZIP1):c.574G>C (p.Glu192Gln)	DZIP1 (E192Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358415	NM_198968.4(DZIP1):c.500C>T (p.Ala167Val)	DZIP1 (A167V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3274257	NM_198968.4(DZIP1):c.460T>G (p.Cys154Gly)	DZIP1 (C154G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465653	NM_198968.4(DZIP1):c.419C>T (p.Ser140Leu)	DZIP1 (S140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361183	NM_198968.4(DZIP1):c.371C>T (p.Ala124Val)	DZIP1 (A124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274258	NM_198968.4(DZIP1):c.320C>T (p.Pro107Leu)	DZIP1 (P107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457196	NM_198968.4(DZIP1):c.229G>T (p.Val77Leu)	DZIP1 (V77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 984963	NM_198968.4(DZIP1):c.188G>A (p.Arg63Gln)	DZIP1 (R63Q)	Single nucleotide variant (missense variant)	Spermatogenic failure 47	GPathogenic
Select item 3086680	NM_198968.4(DZIP1):c.172T>C (p.Phe58Leu)	DZIP1 (F58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 984961	NM_198968.4(DZIP1):c.72C>A (p.Ser24Arg)	DZIP1	Single nucleotide variant (missense variant)	DZIP1-related disorder +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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

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