10225[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +186 more	Copy number loss	See cases	GPathogenic
Select item 2175676	NM_005816.5(CD96):c.2T>C (p.Met1Thr)	CD96 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2882301	NM_005816.5(CD96):c.46A>G (p.Ile16Val)	CD96 (I16V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 225311	NM_005816.5(CD96):c.54dup (p.Val19fs)	CD96 (V19fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1601496	NM_005816.5(CD96):c.61+17T>C	CD96	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2544784	NM_005816.5(CD96):c.86C>G (p.Thr29Arg)	CD96 (T29R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264908	NM_005816.5(CD96):c.95A>G (p.Asn32Ser)	CD96 (N32S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2715386	NM_005816.5(CD96):c.131C>T (p.Thr44Ile)	CD96 (T44I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 754449	NM_005816.5(CD96):c.177C>T (p.Ser59=)	CD96	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 342519	NM_005816.5(CD96):c.177C>A (p.Ser59=)	CD96	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1524983	NM_005816.5(CD96):c.181G>A (p.Val61Ile)	CD96 (V61I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3140721	NM_005816.5(CD96):c.199C>A (p.Leu67Met)	CD96 (L67M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2018078	NM_005816.5(CD96):c.278A>T (p.Glu93Val)	CD96 (E93V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2654027	NM_005816.5(CD96):c.329G>A (p.Cys110Tyr)	CD96 (C110Y)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2594837	NM_005816.5(CD96):c.349G>C (p.Glu117Gln)	CD96 (E117Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1448107	NM_005816.5(CD96):c.359T>C (p.Leu120Pro)	CD96 (L120P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3060763	NM_005816.5(CD96):c.377G>A (p.Gly126Asp)	CD96 (G126D)	Single nucleotide variant (missense variant +1 more)	CD96-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 591779	NM_005816.5(CD96):c.411_413delinsAAT (p.Thr138Ile)	CD96 (T138I)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 3037822	NM_005816.5(CD96):c.418+7A>G	CD96	Single nucleotide variant (intron variant)	CD96-related disorder	GLikely benign
Select item 2260077	NM_005816.5(CD96):c.422C>A (p.Thr141Lys)	CD96 (T141K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1315542	NM_005816.5(CD96):c.422C>G (p.Thr141Arg)	CD96 (T141R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1538658	NM_005816.5(CD96):c.424G>C (p.Ala142Pro)	CD96 (A142P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 3264911	NM_005816.5(CD96):c.449C>A (p.Thr150Lys)	CD96 (T150K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2989018	NM_005816.5(CD96):c.449C>T (p.Thr150Met)	CD96 (T150M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2382179	NM_005816.5(CD96):c.452T>C (p.Ile151Thr)	CD96 (I151T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298818	NM_005816.5(CD96):c.484C>T (p.Pro162Ser)	CD96 (P162S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1048843	NM_005816.5(CD96):c.500G>C (p.Ser167Thr)	CD96 (S167T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3065393	NM_005816.5(CD96):c.505T>C (p.Ser169Pro)	CD96 (S169P)	Single nucleotide variant (missense variant +1 more)	C syndrome	GUncertain significance
Select item 2893110	NM_005816.5(CD96):c.534A>G (p.Ala178=)	CD96	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2385817	NM_005816.5(CD96):c.544-1485G>A	CD96 (G195D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1064615	NM_005816.5(CD96):c.544-1477_544-1459del	CD96	Deletion (splice donor variant +1 more)	C syndrome	GUncertain significance
Select item 3140722	NM_005816.5(CD96):c.575C>G (p.Ser192Cys)	CD96 (S192C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 342525	NM_005816.5(CD96):c.578A>C (p.Gln193Pro)	CD96 (Q209P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3140723	NM_005816.5(CD96):c.579A>T (p.Gln193His)	CD96 (Q209H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2754045	NM_005816.5(CD96):c.586C>T (p.Leu196Phe)	CD96 (L212F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3140724	NM_005816.5(CD96):c.614A>G (p.Asp205Gly)	CD96 (D221G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2143830	NM_005816.5(CD96):c.670G>A (p.Asp224Asn)	CD96 (D224N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 342527	NM_005816.5(CD96):c.680G>A (p.Arg227Gln)	CD96 (R243Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1314282	NM_005816.5(CD96):c.689C>T (p.Ser230Phe)	CD96 (S230F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3063638	NM_005816.5(CD96):c.706G>A (p.Gly236Ser)	CD96 (G236S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 816889	NM_005816.5(CD96):c.718dup (p.Ile240fs)	CD96 (I256fs +1 more)	Duplication (frameshift variant +1 more)	C syndrome	GUncertain significance
Select item 759165	NM_005816.5(CD96):c.741C>T (p.Val247=)	CD96	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2021894	NM_005816.5(CD96):c.743A>G (p.Lys248Arg)	CD96 (K248R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2021895	NM_005816.5(CD96):c.745G>T (p.Val249Phe)	CD96 (V265F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2418485	NM_005816.5(CD96):c.747T>G (p.Val249=)	CD96	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3338015	NM_005816.5(CD96):c.765_773delinsTTAGCTTGTGGAAATTAAC (p.Pro256_Ile258delinsTer)	CD96	Indel (nonsense +1 more)	not specified	GUncertain significance
Select item 1921974	NM_005816.5(CD96):c.766C>T (p.Pro256Ser)	CD96 (P272S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2409444	NM_005816.5(CD96):c.769G>T (p.Val257Leu)	CD96 (V257L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 4640	NM_005816.5(CD96):c.791C>T (p.Thr264Met)	CD96 (T280M +1 more)	Single nucleotide variant (missense variant +1 more)	C syndrome	GPathogenic
Select item 1028428	NM_005816.5(CD96):c.794A>G (p.Asp265Gly)	CD96 (D265G +1 more)	Single nucleotide variant (missense variant +1 more)	C syndrome	GUncertain significance
Select item 1646850	NM_005816.5(CD96):c.807+14A>C	CD96	Single nucleotide variant (intron variant)	C syndrome +1 more	GBenign/Likely benign
Select item 2550698	NM_024508.5(ZBED2):c.590C>T (p.Ala197Val)	CD96, ZBED2 (A197V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605195	NM_024508.5(ZBED2):c.513G>C (p.Glu171Asp)	CD96, ZBED2 (E171D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191799	NM_024508.5(ZBED2):c.509G>T (p.Arg170Leu)	CD96, ZBED2 (R170L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221817	NM_024508.5(ZBED2):c.481C>A (p.Leu161Ile)	CD96, ZBED2 (L161I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333809	NM_024508.5(ZBED2):c.412A>T (p.Asn138Tyr)	CD96, ZBED2 (N138Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261919	NM_024508.5(ZBED2):c.409G>A (p.Gly137Ser)	CD96, ZBED2 (G137S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333807	NM_024508.5(ZBED2):c.382G>A (p.Gly128Arg)	CD96, ZBED2 (G128R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191798	NM_024508.5(ZBED2):c.362G>A (p.Arg121His)	CD96, ZBED2 (R121H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374755	NM_024508.5(ZBED2):c.361C>G (p.Arg121Gly)	CD96, ZBED2 (R121G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239912	NM_024508.5(ZBED2):c.353C>A (p.Ala118Asp)	CD96, ZBED2 (A118D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486901	NM_024508.5(ZBED2):c.209A>G (p.His70Arg)	CD96, ZBED2 (H70R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191797	NM_024508.5(ZBED2):c.157C>T (p.Arg53Trp)	CD96, ZBED2 (R53W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191796	NM_024508.5(ZBED2):c.124A>T (p.Met42Leu)	CD96, ZBED2 (M42L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598079	NM_024508.5(ZBED2):c.124A>G (p.Met42Val)	CD96, ZBED2 (M42V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473217	NM_024508.5(ZBED2):c.110C>G (p.Pro37Arg)	CD96, ZBED2 (P37R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333810	NM_024508.5(ZBED2):c.94G>A (p.Gly32Arg)	CD96, ZBED2 (G32R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624013	NM_024508.5(ZBED2):c.41T>C (p.Met14Thr)	CD96, ZBED2 (M14T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1468484	NM_005816.5(CD96):c.808-17_816del	CD96	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 709665	NM_005816.5(CD96):c.811A>G (p.Arg271Gly)	CD96 (R287G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1569624	NM_005816.5(CD96):c.816T>C (p.Phe272=)	CD96	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3054074	NM_005816.5(CD96):c.848C>G (p.Ala283Gly)	CD96 (A283G +1 more)	Single nucleotide variant (missense variant +1 more)	CD96-related disorder	GUncertain significance
Select item 1964417	NM_005816.5(CD96):c.898G>A (p.Gly300Arg)	CD96 (G300R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1199409	NM_005816.5(CD96):c.934del (p.Asp312fs)	CD96 (D312fs +1 more)	Deletion (frameshift variant +1 more)	C syndrome	GUncertain significance
Select item 1559716	NM_005816.5(CD96):c.966A>G (p.Thr322=)	CD96	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2350252	NM_005816.5(CD96):c.1036C>T (p.Pro346Ser)	CD96 (P346S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2795854	NM_005816.5(CD96):c.1087+6T>C	CD96	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2306978	NM_005816.5(CD96):c.1088G>T (p.Gly363Val)	CD96 (G363V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264912	NM_005816.5(CD96):c.1093G>A (p.Glu365Lys)	CD96 (E365K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 759591	NM_005816.5(CD96):c.1101C>G (p.Ser367=)	CD96	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2328245	NM_005816.5(CD96):c.1126A>G (p.Thr376Ala)	CD96 (T376A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140718	NM_005816.5(CD96):c.1138C>T (p.Leu380Phe)	CD96 (L380F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224004	NM_005816.5(CD96):c.1151C>T (p.Pro384Leu)	CD96 (P384L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2073830	NM_005816.5(CD96):c.1166G>A (p.Ser389Asn)	CD96 (S405N +1 more)	Single nucleotide variant (missense variant +1 more)	CD96-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3045654	NM_005816.5(CD96):c.1180+38A>T	CD96	Single nucleotide variant (3 prime UTR variant +1 more)	CD96-related disorder	GLikely benign
Select item 2498215	NM_005816.5(CD96):c.1181-12T>C	CD96	Single nucleotide variant (intron variant)	C syndrome	GUncertain significance
Select item 342537	NM_005816.5(CD96):c.1181-1G>A	CD96	Single nucleotide variant (splice acceptor variant)	not provided	GBenign
Select item 2150647	NM_005816.5(CD96):c.1216G>T (p.Val406Leu)	CD96 (V422L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1535246	NM_005816.5(CD96):c.1236C>T (p.Asn412=)	CD96	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 759400	NM_005816.5(CD96):c.1239C>G (p.Thr413=)	CD96	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 342540	NM_005816.5(CD96):c.1247A>T (p.Gln416Leu)	CD96 (Q432L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2439821	NM_005816.5(CD96):c.1249+1G>A	CD96	Single nucleotide variant (splice donor variant)	not provided +1 more	GUncertain significance
Select item 342541	NM_005816.5(CD96):c.1251C>A (p.Pro417=)	CD96	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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