ClinVar for Gene (Select 29801) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334284	NM_013373.4(ZDHHC8):c.1402C>G (p.His468Asp)	ZDHHC8 (H468D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334282	NM_013373.4(ZDHHC8):c.227C>T (p.Ala76Val)	ZDHHC8 (A76V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334281	NM_013373.4(ZDHHC8):c.913C>T (p.Arg305Trp)	ZDHHC8 (R305W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334280	NM_013373.4(ZDHHC8):c.*1752C>T	ZDHHC8 (A753V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334279	NM_013373.4(ZDHHC8):c.2087C>T (p.Thr696Met)	ZDHHC8 (T696M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334278	NM_013373.4(ZDHHC8):c.1280C>T (p.Ser427Leu)	ZDHHC8 (S427L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334277	NM_013373.4(ZDHHC8):c.1568G>A (p.Arg523His)	ZDHHC8 (R523H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242338	GRCh37/hg19 22q11.21(chr22:19016502-21464637)x1	AIFM3, ARVCF +43 more	Copy number loss	not provided	GPathogenic
Select item 3242337	GRCh37/hg19 22q11.1-11.21(chr22:16849364-20311389)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3242284	GRCh37/hg19 22q11.21(chr22:18888685-21465668)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 3192801	NM_013373.4(ZDHHC8):c.830G>A (p.Arg277Gln)	ZDHHC8 (R277Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192800	NM_013373.4(ZDHHC8):c.776T>A (p.Leu259Gln)	ZDHHC8 (L259Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192799	NM_013373.4(ZDHHC8):c.773G>A (p.Arg258Gln)	ZDHHC8 (R258Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192798	NM_013373.4(ZDHHC8):c.551C>A (p.Thr184Asn)	ZDHHC8 (T184N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192797	NM_013373.4(ZDHHC8):c.542C>T (p.Ala181Val)	ZDHHC8 (A181V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192796	NM_013373.4(ZDHHC8):c.344C>T (p.Pro115Leu)	ZDHHC8 (P115L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192795	NM_013373.4(ZDHHC8):c.*1754G>A	ZDHHC8 (G754R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192794	NM_013373.4(ZDHHC8):c.*1734C>T	ZDHHC8 (A747V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192793	NM_013373.4(ZDHHC8):c.*1707G>A	LOC130066980, ZDHHC8 (R738H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192792	NM_013373.4(ZDHHC8):c.*1667C>G	LOC130066980, ZDHHC8 (P725A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192791	NM_013373.4(ZDHHC8):c.*1665A>C	LOC130066980, ZDHHC8 (Q724P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192790	NM_013373.4(ZDHHC8):c.1903G>A (p.Val635Met)	ZDHHC8 (V635M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192789	NM_013373.4(ZDHHC8):c.1723G>A (p.Asp575Asn)	ZDHHC8 (D575N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192788	NM_013373.4(ZDHHC8):c.1651T>C (p.Ser551Pro)	ZDHHC8 (S551P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192787	NM_013373.4(ZDHHC8):c.1607C>T (p.Pro536Leu)	ZDHHC8 (P536L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192786	NM_013373.4(ZDHHC8):c.1607C>A (p.Pro536His)	ZDHHC8 (P536H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192785	NM_013373.4(ZDHHC8):c.1595G>A (p.Arg532His)	ZDHHC8 (R532H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192784	NM_013373.4(ZDHHC8):c.1564C>G (p.Pro522Ala)	ZDHHC8 (P522A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192783	NM_013373.4(ZDHHC8):c.1483G>C (p.Ala495Pro)	ZDHHC8 (A495P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192782	NM_013373.4(ZDHHC8):c.1327G>A (p.Gly443Arg)	ZDHHC8 (G443R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192781	NM_013373.4(ZDHHC8):c.1291C>T (p.Arg431Cys)	ZDHHC8 (R431C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192779	NM_013373.4(ZDHHC8):c.1264G>A (p.Ala422Thr)	ZDHHC8 (A422T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192778	NM_013373.4(ZDHHC8):c.1147A>G (p.Thr383Ala)	ZDHHC8 (T383A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192777	NM_013373.4(ZDHHC8):c.1109G>A (p.Cys370Tyr)	ZDHHC8 (C370Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148947	GRCh37/hg19 22q11.21(chr22:18648856-21800471)x1	AIFM3, ARVCF +49 more	Copy number loss	See cases	GPathogenic
Select item 3148946	GRCh37/hg19 22q11.21(chr22:18649190-21800471)x3	AIFM3, ARVCF +49 more	Copy number gain	not provided	GPathogenic
Select item 3148922	GRCh37/hg19 22q11.21(chr22:18919478-21461017)x3	AIFM3, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3148919	GRCh37/hg19 22q11.21(chr22:18649190-21022258)x3	ARVCF, C22orf39 +37 more	Copy number gain	See cases	GPathogenic
Select item 3148863	GRCh37/hg19 22q11.1-11.21(chr22:16888900-20312661)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3148859	GRCh37/hg19 22q11.21(chr22:18919478-21927646)x3	AIFM3, ARVCF +50 more	Copy number gain	not provided	GPathogenic
Select item 2685672	GRCh37/hg19 22q11.1-11.21(chr22:17832142-20945625)x1	RTL10, RTN4R +45 more	Copy number loss	not provided	GPathogenic
Select item 2684927	GRCh37/hg19 22q11.21(chr22:18916843-20716903)x3	ARVCF, C22orf39 +30 more	Copy number gain	not provided	GPathogenic
Select item 2672921	GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1	CLTCL1, COMT +46 more	Copy number loss	not provided	GPathogenic
Select item 2663892	GRCh38/hg38 22q11.21(chr22:18856290-21070117)x3	AIFM3, ARVCF +174 more	Copy number gain	Microcephaly-digital anomalies-intellectual disability syndrome	GPathogenic
Select item 2652883	NM_013373.4(ZDHHC8):c.2055C>T (p.Tyr685=)	ZDHHC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618322	NM_013373.4(ZDHHC8):c.2099A>G (p.Glu700Gly)	ZDHHC8 (E700G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616154	NM_013373.4(ZDHHC8):c.1367G>A (p.Gly456Glu)	ZDHHC8 (G456E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615064	NM_013373.4(ZDHHC8):c.1312T>G (p.Ser438Ala)	ZDHHC8 (S438A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591894	NM_013373.4(ZDHHC8):c.1541C>T (p.Thr514Met)	ZDHHC8 (T514M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580321	GRCh37/hg19 22q11.21(chr22:18893838-20307561)x1	ARVCF, C22orf39 +27 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 2580309	GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3	AIFM3, ARVCF +45 more	Copy number gain	Chromosome 22q11.2 deletion syndrome, distal +1 more	GPathogenic
Select item 2580291	GRCh37/hg19 22q11.21(chr22:18893838-20508931)x3	ARVCF, C22orf39 +30 more	Copy number gain	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 2579266	GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1	AIFM3, ARVCF +169 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 2574689	GRCh37/hg19 22q11.21(chr22:18916842-20311810)	COMT, ARVCF +26 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2574134	NC_000022.11:g.18948676_21110520del	LOC130066999, LOC130067004 +170 more	Deletion	Velocardiofacial syndrome	GPathogenic
Select item 2572172	NC_000022.11:g.18948676_21110520dup	LOC130066967, TSSK2 +170 more	Duplication	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2571168	GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 2559511	NM_013373.4(ZDHHC8):c.480G>A (p.Met160Ile)	ZDHHC8 (M160I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558561	NM_013373.4(ZDHHC8):c.*1641C>T	LOC130066980, ZDHHC8 (T716I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551472	NM_013373.4(ZDHHC8):c.1204C>G (p.Leu402Val)	ZDHHC8 (L402V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547087	NM_013373.4(ZDHHC8):c.1949A>G (p.Gln650Arg)	ZDHHC8 (Q650R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546228	NM_013373.4(ZDHHC8):c.1783G>A (p.Glu595Lys)	ZDHHC8 (E595K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521612	NM_013373.4(ZDHHC8):c.*1805C>T	LOC130066981, ZDHHC8 (L771F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498202	Single allele	AIFM3, ARVCF +190 more	Deletion	22q11.2 deletion syndrome	GPathogenic
Select item 2492547	NM_013373.4(ZDHHC8):c.1575C>A (p.Phe525Leu)	ZDHHC8 (F525L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487436	NM_013373.4(ZDHHC8):c.*1758C>T	ZDHHC8 (A755V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2475647	NM_013373.4(ZDHHC8):c.1730G>A (p.Gly577Asp)	ZDHHC8 (G577D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460424	NM_013373.4(ZDHHC8):c.901G>A (p.Gly301Ser)	ZDHHC8 (G301S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445211	Single allele	AIFM3, ARVCF +45 more	Deletion	See cases	GPathogenic
Select item 2405107	NM_013373.4(ZDHHC8):c.*1626G>A	LOC130066980, ZDHHC8 (R711Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393260	NM_013373.4(ZDHHC8):c.1120G>A (p.Glu374Lys)	ZDHHC8 (E374K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391761	NM_013373.4(ZDHHC8):c.677G>A (p.Arg226His)	ZDHHC8 (R226H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385034	NM_013373.4(ZDHHC8):c.1347G>T (p.Gln449His)	ZDHHC8 (Q449H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361382	NM_013373.4(ZDHHC8):c.1801G>A (p.Ala601Thr)	ZDHHC8 (A601T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2348929	NM_013373.4(ZDHHC8):c.*1736C>A	ZDHHC8 (P748T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339764	NM_013373.4(ZDHHC8):c.2119G>A (p.Val707Met)	ZDHHC8 (V707M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2334556	NM_013373.4(ZDHHC8):c.*1727C>G	ZDHHC8 (L745V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331249	NM_013373.4(ZDHHC8):c.809T>G (p.Leu270Arg)	ZDHHC8 (L270R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327630	NM_013373.4(ZDHHC8):c.*1767G>A	LOC130066981, ZDHHC8 (R758H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327263	NM_013373.4(ZDHHC8):c.1256C>T (p.Pro419Leu)	ZDHHC8 (P419L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327196	NM_013373.4(ZDHHC8):c.2060G>A (p.Gly687Asp)	ZDHHC8 (G687D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323712	NM_013373.4(ZDHHC8):c.1370C>T (p.Pro457Leu)	ZDHHC8 (P457L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303723	NM_013373.4(ZDHHC8):c.1820G>A (p.Arg607Lys)	ZDHHC8 (R607K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282609	NM_013373.4(ZDHHC8):c.2027C>G (p.Pro676Arg)	ZDHHC8 (P676R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282499	NM_013373.4(ZDHHC8):c.1301G>A (p.Ser434Asn)	ZDHHC8 (S434N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245841	NM_013373.4(ZDHHC8):c.830G>T (p.Arg277Leu)	ZDHHC8 (R277L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243479	NM_013373.4(ZDHHC8):c.1046C>T (p.Pro349Leu)	ZDHHC8 (P349L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233569	NM_013373.4(ZDHHC8):c.1487A>C (p.His496Pro)	ZDHHC8 (H496P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218573	NM_013373.4(ZDHHC8):c.*1751G>A	ZDHHC8 (A753T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212575	NM_013373.4(ZDHHC8):c.1028C>T (p.Ser343Leu)	ZDHHC8 (S343L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212003	NM_013373.4(ZDHHC8):c.1664G>A (p.Arg555His)	ZDHHC8 (R555H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206549	NM_013373.4(ZDHHC8):c.772C>T (p.Arg258Trp)	ZDHHC8 (R258W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879568	GRCh37/hg19 22q11.21(chr22:19184000-21416024)x1	AIFM3, ARVCF +38 more	Copy number loss	not provided	GPathogenic
Select item 1879567	GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1	GP1BB, SCARF2 +45 more	Copy number loss	not provided	GPathogenic
Select item 1879566	GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1	AIFM3, ARVCF +46 more	Copy number loss	not provided	GPathogenic
Select item 1879565	GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1	TXNRD2, USP41 +45 more	Copy number loss	not provided	GPathogenic
Select item 1808875	GRCh37/hg19 22q11.21(chr22:18644791-21041014)x1	MRPL40, PRODH +37 more	Copy number loss	not provided	GPathogenic
Select item 1808741	GRCh37/hg19 22q11.21(chr22:18916843-21465659)x1	AIFM3, ARVCF +44 more	Copy number loss	not provided	GPathogenic
Select item 1808737	GRCh37/hg19 22q11.21(chr22:18916843-21075592)x1	ARVCF, C22orf39 +36 more	Copy number loss	not provided	GPathogenic
Select item 1808679	GRCh37/hg19 22q11.21(chr22:19336598-21208828)x1	ARVCF, C22orf39 +30 more	Copy number loss	not provided	GPathogenic

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