ClinVar for Gene (Select 9754) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3171002	NM_001142503.3(STARD8):c.935G>A (p.Arg312His)	STARD8 (R312H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171000	NM_001142503.3(STARD8):c.745C>T (p.Arg249Cys)	STARD8 (R169C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170999	NM_001142503.3(STARD8):c.620G>A (p.Arg207His)	STARD8 (R127H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170998	NM_001142503.3(STARD8):c.611A>G (p.His204Arg)	STARD8 (H204R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170997	NM_001142503.3(STARD8):c.385T>A (p.Ser129Thr)	STARD8 (S49T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170996	NM_001142503.3(STARD8):c.298A>G (p.Asn100Asp)	STARD8 (N20D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170995	NM_001142503.3(STARD8):c.2725C>G (p.Arg909Gly)	STARD8 (R829G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170994	NM_001142503.3(STARD8):c.2678G>C (p.Gly893Ala)	STARD8 (G893A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170993	NM_001142503.3(STARD8):c.2552G>A (p.Ser851Asn)	STARD8 (S771N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170992	NM_001142503.3(STARD8):c.2272G>A (p.Ala758Thr)	STARD8 (A758T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170991	NM_001142503.3(STARD8):c.2125A>G (p.Asn709Asp)	STARD8 (N709D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170990	NM_001142503.3(STARD8):c.2112G>T (p.Glu704Asp)	STARD8 (E704D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170989	NM_001142503.3(STARD8):c.1786C>T (p.Arg596Trp)	STARD8 (R596W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170988	NM_001142503.3(STARD8):c.1747C>T (p.His583Tyr)	STARD8 (H583Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170987	NM_001142503.3(STARD8):c.1676G>A (p.Arg559His)	STARD8 (R479H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170986	NM_001142503.3(STARD8):c.1597A>C (p.Ser533Arg)	STARD8 (S533R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170985	NM_001142503.3(STARD8):c.1318G>T (p.Ala440Ser)	STARD8 (A440S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170984	NM_001142503.3(STARD8):c.1168G>A (p.Asp390Asn)	STARD8 (D390N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170983	NM_001142503.3(STARD8):c.1154A>G (p.Tyr385Cys)	STARD8 (Y305C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170982	NM_001142503.3(STARD8):c.1061C>T (p.Thr354Met)	STARD8 (T274M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062578	GRCh37/hg19 Xq12-13.1(chrX:66896135-68529063)	AR, EFNB1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TMEM31, TMEM35A +488 more	Copy number gain	not provided	GPathogenic
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	KIF4A, LOC130068402 +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 2660792	NM_001142503.3(STARD8):c.2429A>G (p.Asn810Ser)	STARD8 (N730S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2660791	NM_001142503.3(STARD8):c.1983G>A (p.Thr661=)	STARD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660790	NM_001142503.3(STARD8):c.1472C>T (p.Pro491Leu)	STARD8 (P411L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660789	NM_001142503.3(STARD8):c.1466_1483del (p.485PA[2])	STARD8	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2660788	NM_001142503.3(STARD8):c.1403C>A (p.Ala468Asp)	STARD8 (A388D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660787	NM_001142503.3(STARD8):c.1314T>C (p.Ala438=)	STARD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660786	NM_001142503.3(STARD8):c.746G>A (p.Arg249His)	STARD8 (R169H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660785	NM_001142503.3(STARD8):c.653G>A (p.Arg218Gln)	STARD8 (R138Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660784	NM_001142503.3(STARD8):c.614G>A (p.Arg205His)	STARD8 (R125H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660783	NM_001142503.3(STARD8):c.429C>T (p.Thr143=)	STARD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620514	NM_001142503.3(STARD8):c.583G>A (p.Gly195Ser)	STARD8 (G115S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611190	NM_001142503.3(STARD8):c.881G>A (p.Arg294Gln)	STARD8 (R214Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609369	NM_001142503.3(STARD8):c.1948T>C (p.Phe650Leu)	STARD8 (F650L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603381	NM_001142503.3(STARD8):c.784T>C (p.Trp262Arg)	STARD8 (W262R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2593096	NM_001142503.3(STARD8):c.2894C>A (p.Ala965Asp)	STARD8 (A885D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588518	NM_001142503.3(STARD8):c.2884C>T (p.Arg962Trp)	STARD8 (R962W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566184	NM_001142503.3(STARD8):c.1454C>T (p.Pro485Leu)	STARD8 (P405L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549432	NM_001142503.3(STARD8):c.1021C>T (p.Arg341Cys)	STARD8 (R261C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544968	NM_001142503.3(STARD8):c.3139G>A (p.Glu1047Lys)	STARD8 (E1047K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536125	NM_001142503.3(STARD8):c.1025G>A (p.Arg342Gln)	STARD8 (R262Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525825	NM_001142503.3(STARD8):c.1934G>A (p.Arg645Gln)	STARD8 (R565Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525491	NM_001142503.3(STARD8):c.1444G>A (p.Ala482Thr)	STARD8 (A482T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2513523	NM_001142503.3(STARD8):c.5C>G (p.Pro2Arg)	STARD8 (P2R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512267	NM_001142503.3(STARD8):c.196G>A (p.Gly66Ser)	STARD8 (G66S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2495674	NM_001142503.3(STARD8):c.920C>T (p.Pro307Leu)	STARD8 (P227L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494959	NM_001142503.3(STARD8):c.321G>T (p.Glu107Asp)	STARD8 (E107D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490024	NM_001142503.3(STARD8):c.880C>T (p.Arg294Trp)	STARD8 (R214W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484920	NM_001142503.3(STARD8):c.2732C>A (p.Ala911Asp)	STARD8 (A911D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484229	NM_001142503.3(STARD8):c.1220G>C (p.Arg407Pro)	STARD8 (R327P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457946	NM_001142503.3(STARD8):c.1217C>A (p.Ser406Tyr)	STARD8 (S406Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424482	NC_000023.10:g.(?_66905832)_(68060497_?)dup	STARD8, YIPF6 +3 more	Duplication	not provided	GUncertain significance
Select item 2407637	NM_001142503.3(STARD8):c.3058G>A (p.Val1020Ile)	STARD8 (V1020I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388252	NM_001142503.3(STARD8):c.1454C>G (p.Pro485Arg)	STARD8 (P485R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360956	NM_001142503.3(STARD8):c.341A>G (p.His114Arg)	STARD8 (H114R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348764	NM_001142503.3(STARD8):c.550C>T (p.Arg184Trp)	STARD8 (R184W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345333	NM_001142503.3(STARD8):c.3098C>T (p.Ser1033Leu)	STARD8 (S953L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330869	NM_001142503.3(STARD8):c.2254C>T (p.Pro752Ser)	STARD8 (P672S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300286	NM_001142503.3(STARD8):c.619C>T (p.Arg207Cys)	STARD8 (R207C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257617	NM_001142503.3(STARD8):c.901G>T (p.Val301Phe)	STARD8 (V221F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247505	NM_001142503.3(STARD8):c.280C>A (p.His94Asn)	STARD8 (H14N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239865	NM_001142503.3(STARD8):c.2617G>T (p.Ala873Ser)	STARD8 (A793S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237316	NM_001142503.3(STARD8):c.2438A>G (p.Lys813Arg)	STARD8 (K733R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226286	NM_001142503.3(STARD8):c.2740C>T (p.Arg914Cys)	STARD8 (R834C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215732	NM_001142503.3(STARD8):c.1183G>A (p.Val395Met)	STARD8 (V315M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213658	NM_001142503.3(STARD8):c.400G>A (p.Ala134Thr)	STARD8 (A134T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213485	NM_001142503.3(STARD8):c.2632C>T (p.Pro878Ser)	STARD8 (P798S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1802182	NM_001142503.3(STARD8):c.2978G>A (p.Ser993Asn)	STARD8 (S993N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	H2AB3, H2BW1 +502 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1526811	GRCh37/hg19 Xq12-13.1(chrX:67570138-68576809)	EFNB1, OPHN1 +3 more	Copy number gain	not specified	GLikely pathogenic
Select item 1526809	GRCh37/hg19 Xq12-13.1(chrX:67317059-68072263)	EFNB1, OPHN1 +2 more	Copy number gain	not specified	GPathogenic
Select item 1526808	GRCh37/hg19 Xq12-13.1(chrX:65734663-68081523)	AR, EDA2R +4 more	Copy number loss	not specified	GPathogenic
Select item 1526804	GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1526803	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	ABCB7, ABCD1 +510 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ABCB7, ABCD1 +514 more	Copy number gain	See cases	GPathogenic
Select item 979825	GRCh37/hg19 Xq13.1(chrX:67822737-68635666)x3	EFNB1, STARD8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 793381	NM_001142503.3(STARD8):c.2409G>A (p.Ala803=)	STARD8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777794	NM_001142503.3(STARD8):c.1284A>C (p.Glu428Asp)	STARD8 (E348D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775460	NM_001142503.3(STARD8):c.2488A>C (p.Arg830=)	STARD8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 754786	NM_001142503.3(STARD8):c.1978C>T (p.Arg660Cys)	STARD8 (R660C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 711733	NM_001142503.3(STARD8):c.739A>G (p.Ser247Gly)	STARD8 (S167G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 710680	NM_001142503.3(STARD8):c.1164A>G (p.Leu388=)	STARD8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +270 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 689241	GRCh37/hg19 Xq11.1-13.1(chrX:61882086-69173640)x1	AMER1, AR +19 more	Copy number loss	not provided	GPathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	RBMX2, RBMXL3 +525 more	Copy number loss	not provided	GUncertain significance
Select item 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AMOT, APLN +503 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	ZNF275, ZNF280C +821 more	Copy number gain	not provided	GPathogenic

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