19162[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 2542466	NM_020759.3(STARD9):c.70A>G (p.Ile24Val)	STARD9 (I24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171029	NM_020759.3(STARD9):c.124A>T (p.Asn42Tyr)	STARD9 (N42Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350746	NM_020759.3(STARD9):c.158A>G (p.Lys53Arg)	STARD9 (K53R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3171049	NM_020759.3(STARD9):c.206A>G (p.Glu69Gly)	STARD9 (E69G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171061	NM_020759.3(STARD9):c.378A>G (p.Ile126Met)	STARD9 (I126M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171064	NM_020759.3(STARD9):c.401A>G (p.Glu134Gly)	STARD9 (E134G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559873	NM_020759.3(STARD9):c.431G>A (p.Cys144Tyr)	STARD9 (C144Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282526	NM_020759.3(STARD9):c.460T>C (p.Tyr154His)	STARD9 (Y154H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305349	NM_020759.3(STARD9):c.470G>A (p.Arg157Gln)	STARD9 (R157Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349895	NM_020759.3(STARD9):c.509C>G (p.Ser170Cys)	STARD9 (S170C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491357	NM_020759.3(STARD9):c.521G>A (p.Arg174Gln)	STARD9 (R174Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779160	NM_020759.3(STARD9):c.531G>A (p.Glu177=)	STARD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619513	NM_020759.3(STARD9):c.548C>T (p.Pro183Leu)	STARD9 (P183L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050407	NM_020759.3(STARD9):c.560-6C>T	STARD9	Single nucleotide variant (intron variant)	STARD9-related disorder	GLikely benign
Select item 2536261	NM_020759.3(STARD9):c.680T>G (p.Ile227Ser)	STARD9 (I227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171084	NM_020759.3(STARD9):c.686C>T (p.Thr229Met)	STARD9 (T229M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530988	NM_020759.3(STARD9):c.686C>A (p.Thr229Lys)	STARD9 (T229K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718236	NM_020759.3(STARD9):c.719A>G (p.Asn240Ser)	STARD9 (N240S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2490510	NM_020759.3(STARD9):c.721C>T (p.Leu241Phe)	STARD9 (L241F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038413	NM_020759.3(STARD9):c.729T>G (p.Ser243=)	STARD9	Single nucleotide variant (synonymous variant)	STARD9-related disorder	GBenign
Select item 3171091	NM_020759.3(STARD9):c.772G>A (p.Glu258Lys)	STARD9 (E258K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171093	NM_020759.3(STARD9):c.778G>A (p.Ala260Thr)	STARD9 (A260T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645239	NM_020759.3(STARD9):c.834C>T (p.Ser278=)	STARD9	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2314527	NM_020759.3(STARD9):c.880C>G (p.Gln294Glu)	STARD9 (Q294E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171105	NM_020759.3(STARD9):c.949T>C (p.Ser317Pro)	STARD9 (S317P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2920782	NM_020759.3(STARD9):c.986G>A (p.Arg329Gln)	STARD9 (R329Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 807219	NM_020759.3(STARD9):c.994T>C (p.Ser332Pro)	STARD9 (S332P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2367373	NM_020759.3(STARD9):c.1042A>G (p.Ser348Gly)	STARD9 (S348G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1675567	NM_020759.3(STARD9):c.1101C>G (p.Ser367Arg)	STARD9 (S367R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2261350	NM_020759.3(STARD9):c.1105A>C (p.Ser369Arg)	STARD9 (S369R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617315	NM_020759.3(STARD9):c.1135T>C (p.Ser379Pro)	STARD9 (S379P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1223154	NM_020759.3(STARD9):c.1254+4T>G	STARD9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2329223	NM_020759.3(STARD9):c.1293G>C (p.Glu431Asp)	STARD9 (E431D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329224	NM_020759.3(STARD9):c.1294C>A (p.Leu432Met)	STARD9 (L432M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274159	NM_020759.3(STARD9):c.1396A>C (p.Asn466His)	STARD9 (N466H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645240	NM_020759.3(STARD9):c.1411G>C (p.Gly471Arg)	STARD9 (G471R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 720964	NM_020759.3(STARD9):c.1422C>T (p.Ile474=)	STARD9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2335771	NM_020759.3(STARD9):c.1529C>T (p.Ser510Leu)	STARD9 (S510L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597000	NM_020759.3(STARD9):c.1610T>C (p.Val537Ala)	STARD9 (V537A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784312	NM_020759.3(STARD9):c.1619G>A (p.Arg540Gln)	STARD9 (R540Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2390194	NM_020759.3(STARD9):c.1628G>A (p.Arg543His)	STARD9 (R543H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171042	NM_020759.3(STARD9):c.1631G>C (p.Gly544Ala)	STARD9 (G544A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213554	NM_020759.3(STARD9):c.1636C>T (p.Arg546Cys)	STARD9 (R546C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040598	NM_020759.3(STARD9):c.1649A>G (p.Asn550Ser)	STARD9 (N550S)	Single nucleotide variant (missense variant)	STARD9-related disorder	GBenign
Select item 3171043	NM_020759.3(STARD9):c.1655G>A (p.Arg552Gln)	STARD9 (R552Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 807220	NM_020759.3(STARD9):c.1655G>T (p.Arg552Leu)	STARD9 (R552L)	Single nucleotide variant (missense variant)	STARD9-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2207397	NM_020759.3(STARD9):c.1666G>T (p.Ala556Ser)	STARD9 (A556S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257228	NM_020759.3(STARD9):c.1676G>A (p.Arg559His)	STARD9 (R559H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473131	NM_020759.3(STARD9):c.1763G>A (p.Arg588Gln)	STARD9 (R588Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608706	NM_020759.3(STARD9):c.1768C>A (p.Gln590Lys)	STARD9 (Q590K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341916	NM_020759.3(STARD9):c.1771-2A>T	STARD9	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3171044	NM_020759.3(STARD9):c.1772T>A (p.Val591Asp)	STARD9 (V591D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171045	NM_020759.3(STARD9):c.1792C>T (p.Arg598Cys)	STARD9 (R598C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291408	NM_020759.3(STARD9):c.1820A>G (p.Asp607Gly)	STARD9 (D607G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171046	NM_020759.3(STARD9):c.1840C>T (p.Arg614Trp)	STARD9 (R614W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768703	NM_020759.3(STARD9):c.1841G>A (p.Arg614Gln)	STARD9 (R614Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3171047	NM_020759.3(STARD9):c.1880C>T (p.Ala627Val)	STARD9 (A627V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2597202	NM_020759.3(STARD9):c.1916C>T (p.Pro639Leu)	STARD9 (P639L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3171048	NM_020759.3(STARD9):c.2009G>A (p.Arg670Gln)	STARD9 (R670Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2462194	NM_020759.3(STARD9):c.2125G>A (p.Glu709Lys)	STARD9 (E709K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244350	NM_020759.3(STARD9):c.2254C>T (p.Arg752Trp)	STARD9 (R752W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471554	NM_020759.3(STARD9):c.2293C>T (p.Arg765Trp)	STARD9 (R765W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171050	NM_020759.3(STARD9):c.2306C>T (p.Ser769Leu)	STARD9 (S769L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171051	NM_020759.3(STARD9):c.2360G>A (p.Arg787Lys)	STARD9 (R787K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240896	NM_020759.3(STARD9):c.2410G>A (p.Glu804Lys)	STARD9 (E804K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 708126	NM_020759.3(STARD9):c.2477C>T (p.Thr826Met)	STARD9 (T826M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2273209	NM_020759.3(STARD9):c.2495G>A (p.Ser832Asn)	STARD9 (S832N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378211	NM_020759.3(STARD9):c.2587C>T (p.Pro863Ser)	STARD9 (P863S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277641	NM_020759.3(STARD9):c.2648A>G (p.Tyr883Cys)	STARD9 (Y883C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556197	NM_020759.3(STARD9):c.2659A>G (p.Thr887Ala)	STARD9 (T887A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773560	NM_020759.3(STARD9):c.2664G>A (p.Gly888=)	STARD9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3171053	NM_020759.3(STARD9):c.2671C>T (p.Arg891Cys)	STARD9 (R891C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171054	NM_020759.3(STARD9):c.2732C>A (p.Ala911Asp)	STARD9 (A911D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171055	NM_020759.3(STARD9):c.2801T>C (p.Met934Thr)	STARD9 (M934T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048356	NM_020759.3(STARD9):c.2928G>A (p.Gly976=)	STARD9	Single nucleotide variant (synonymous variant)	STARD9-related disorder	GLikely benign
Select item 2373520	NM_020759.3(STARD9):c.3010G>A (p.Gly1004Arg)	STARD9 (G1004R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533114	NM_020759.3(STARD9):c.3089C>G (p.Thr1030Arg)	STARD9 (T1030R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296439	NM_020759.3(STARD9):c.3188C>T (p.Pro1063Leu)	STARD9 (P1063L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596530	NM_020759.3(STARD9):c.3208A>G (p.Arg1070Gly)	STARD9 (R1070G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171056	NM_020759.3(STARD9):c.3220A>G (p.Thr1074Ala)	STARD9 (T1074A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2274705	NM_020759.3(STARD9):c.3240G>A (p.Met1080Ile)	STARD9 (M1080I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319372	NM_020759.3(STARD9):c.3247C>T (p.Leu1083Phe)	STARD9 (L1083F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 807221	NM_020759.3(STARD9):c.3302C>T (p.Ser1101Phe)	STARD9 (S1101F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334521	NM_020759.3(STARD9):c.3323C>G (p.Ser1108Ter)	STARD9 (S1108*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3035131	NM_020759.3(STARD9):c.3340T>C (p.Cys1114Arg)	STARD9 (C1114R)	Single nucleotide variant (missense variant)	STARD9-related disorder	GLikely benign
Select item 2204973	NM_020759.3(STARD9):c.3422G>A (p.Ser1141Asn)	STARD9 (S1141N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241891	NM_020759.3(STARD9):c.3436C>G (p.Leu1146Val)	STARD9 (L1146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768704	NM_020759.3(STARD9):c.3490G>C (p.Gly1164Arg)	STARD9 (G1164R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2463065	NM_020759.3(STARD9):c.3494G>A (p.Gly1165Asp)	STARD9 (G1165D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171057	NM_020759.3(STARD9):c.3499C>T (p.Arg1167Cys)	STARD9 (R1167C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354877	NM_020759.3(STARD9):c.3526A>T (p.Arg1176Trp)	STARD9 (R1176W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171058	NM_020759.3(STARD9):c.3534A>T (p.Arg1178Ser)	STARD9 (R1178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645241	NM_020759.3(STARD9):c.3543T>C (p.Ala1181=)	STARD9	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 807222	NM_020759.3(STARD9):c.3568T>C (p.Ser1190Pro)	STARD9 (S1190P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 781173	NM_020759.3(STARD9):c.3569C>T (p.Ser1190Leu)	STARD9 (S1190L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2474289	NM_020759.3(STARD9):c.3589C>G (p.Gln1197Glu)	STARD9 (Q1197E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779745	NM_020759.3(STARD9):c.3684C>T (p.Asp1228=)	STARD9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3171060	NM_020759.3(STARD9):c.3685G>A (p.Glu1229Lys)	STARD9 (E1229K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250650	NM_020759.3(STARD9):c.3691C>A (p.Pro1231Thr)	STARD9 (P1231T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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