ClinVar for Gene (Select 22873) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 139

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3274258	NM_198968.4(DZIP1):c.320C>T (p.Pro107Leu)	DZIP1 (P107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3274256	NM_198968.4(DZIP1):c.1064C>T (p.Pro355Leu)	DZIP1 (P355L)	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 3250514	NM_198968.4(DZIP1):c.1812T>G (p.Cys604Trp)	DZIP1 (C585W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 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 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 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 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 3086680	NM_198968.4(DZIP1):c.172T>C (p.Phe58Leu)	DZIP1 (F58L)	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 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 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 3026157	NM_198968.4(DZIP1):c.1057C>T (p.Arg353Cys)	DZIP1 (R353C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 2595027	NM_198968.4(DZIP1):c.950C>T (p.Ser317Leu)	DZIP1 (S317L)	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 2588321	NM_198968.4(DZIP1):c.574G>C (p.Glu192Gln)	DZIP1 (E192Q)	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 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 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 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 2490459	NM_198968.4(DZIP1):c.916G>A (p.Glu306Lys)	DZIP1 (E306K)	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 2466411	NM_198968.4(DZIP1):c.1172G>A (p.Arg391Gln)	DZIP1 (R391Q)	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 2457243	NM_198968.4(DZIP1):c.629A>G (p.Gln210Arg)	DZIP1 (Q210R)	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 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 2408674	NM_198968.4(DZIP1):c.1056C>A (p.Asp352Glu)	DZIP1 (D352E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 2361183	NM_198968.4(DZIP1):c.371C>T (p.Ala124Val)	DZIP1 (A124V)	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 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 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 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 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 2258399	NM_198968.4(DZIP1):c.1139C>G (p.Ala380Gly)	DZIP1 (A380G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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
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 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 984963	NM_198968.4(DZIP1):c.188G>A (p.Arg63Gln)	DZIP1 (R63Q)	Single nucleotide variant (missense variant)	Spermatogenic failure 47	GPathogenic
Select item 984962	NM_198968.4(DZIP1):c.690T>G (p.Tyr230Ter)	DZIP1 (Y230*)	Single nucleotide variant (nonsense)	Spermatogenic failure 47	GPathogenic
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 979989	GRCh37/hg19 13q32.1(chr13:96225567-96456089)x3	CLDN10, UGGT2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815612	GRCh37/hg19 13q32.1-33.2(chr13:96240346-106103782)x1	BIVM, BIVM-ERCC5 +33 more	Copy number loss	not provided	GPathogenic
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 781123	NM_198968.4(DZIP1):c.666T>G (p.Thr222=)	DZIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
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 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

<< First< Prev

Page of 2