23397[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 2511384	NM_001860.3(SLC31A2):c.155A>G (p.Asn52Ser)	FKBP15, SLC31A2 (N52S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319532	NM_001860.3(SLC31A2):c.299A>G (p.His100Arg)	FKBP15, SLC31A2 (H100R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095306	NM_015258.2(FKBP15):c.3637G>A (p.Asp1213Asn)	FKBP15 (D1213N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493618	NM_015258.2(FKBP15):c.3608C>T (p.Thr1203Met)	FKBP15 (T1203M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095305	NM_015258.2(FKBP15):c.3595C>T (p.Arg1199Cys)	FKBP15 (R1199C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095304	NM_015258.2(FKBP15):c.3506A>G (p.Asp1169Gly)	FKBP15 (D1169G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095303	NM_015258.2(FKBP15):c.3440T>C (p.Val1147Ala)	FKBP15 (V1147A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2549449	NM_015258.2(FKBP15):c.3419G>A (p.Ser1140Asn)	FKBP15 (S1140N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537720	NM_015258.2(FKBP15):c.3392C>G (p.Ser1131Cys)	FKBP15 (S1131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509627	NM_015258.2(FKBP15):c.3386C>T (p.Thr1129Ile)	FKBP15 (T1129I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468742	NM_015258.2(FKBP15):c.3365A>C (p.Gln1122Pro)	FKBP15 (Q1122P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525283	NM_015258.2(FKBP15):c.3316G>A (p.Asp1106Asn)	FKBP15 (D1106N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307155	NM_015258.2(FKBP15):c.3314G>C (p.Gly1105Ala)	FKBP15 (G1105A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306698	NM_015258.2(FKBP15):c.3311A>G (p.Glu1104Gly)	FKBP15 (E1104G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290332	NM_015258.2(FKBP15):c.3257A>G (p.Asp1086Gly)	FKBP15 (D1086G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254748	NM_015258.2(FKBP15):c.3224C>T (p.Ser1075Leu)	FKBP15 (S1075L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3095302	NM_015258.2(FKBP15):c.3199A>G (p.Met1067Val)	FKBP15 (M1067V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2275273	NM_015258.2(FKBP15):c.3142C>T (p.Pro1048Ser)	FKBP15 (P1048S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278946	NM_015258.2(FKBP15):c.3118C>T (p.Pro1040Ser)	FKBP15 (P1040S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278952	NM_015258.2(FKBP15):c.3047C>A (p.Ala1016Glu)	FKBP15 (A1016E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336094	NM_015258.2(FKBP15):c.3010G>A (p.Asp1004Asn)	FKBP15 (D1004N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322493	NM_015258.2(FKBP15):c.2998A>G (p.Thr1000Ala)	FKBP15 (T1000A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539107	NM_015258.2(FKBP15):c.2981T>G (p.Leu994Trp)	FKBP15 (L994W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278950	NM_015258.2(FKBP15):c.2945T>A (p.Val982Glu)	FKBP15 (V982E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305388	NM_015258.2(FKBP15):c.2936C>T (p.Ser979Phe)	FKBP15 (S979F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469527	NM_015258.2(FKBP15):c.2900A>G (p.Gln967Arg)	FKBP15 (Q967R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278942	NM_015258.2(FKBP15):c.2890A>T (p.Ser964Cys)	FKBP15 (S964C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095300	NM_015258.2(FKBP15):c.2817C>A (p.Ser939Arg)	FKBP15 (S939R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278947	NM_015258.2(FKBP15):c.2770G>A (p.Val924Met)	FKBP15 (V924M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278945	NM_015258.2(FKBP15):c.2768T>C (p.Met923Thr)	FKBP15 (M923T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461177	NM_015258.2(FKBP15):c.2707G>A (p.Glu903Lys)	FKBP15 (E903K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278957	NM_015258.2(FKBP15):c.2701G>A (p.Glu901Lys)	FKBP15 (E901K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246431	NM_015258.2(FKBP15):c.2653G>A (p.Glu885Lys)	FKBP15 (E885K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278948	NM_015258.2(FKBP15):c.2635G>C (p.Ala879Pro)	FKBP15 (A879P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483562	NM_015258.2(FKBP15):c.2588T>A (p.Ile863Asn)	FKBP15 (I863N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590808	NM_015258.2(FKBP15):c.2494G>A (p.Asp832Asn)	FKBP15 (D832N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399402	NM_015258.2(FKBP15):c.2433T>A (p.His811Gln)	FKBP15 (H811Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538323	NM_015258.2(FKBP15):c.2365G>A (p.Ala789Thr)	FKBP15 (A789T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095298	NM_015258.2(FKBP15):c.2306A>T (p.Gln769Leu)	FKBP15 (Q769L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412561	NM_015258.2(FKBP15):c.2272G>A (p.Glu758Lys)	FKBP15 (E758K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278949	NM_015258.2(FKBP15):c.2226C>A (p.Asn742Lys)	FKBP15 (N742K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 157152	NM_139286.3(CDC26):c.369_91225dup	FKBP15, LOC130002411 +4 more	Duplication	Normal pregnancy	Gnot provided
Select item 2216831	NM_015258.2(FKBP15):c.2126A>G (p.Lys709Arg)	FKBP15 (K709R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278944	NM_015258.2(FKBP15):c.2063C>G (p.Thr688Ser)	FKBP15 (T688S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366726	NM_015258.2(FKBP15):c.2030T>C (p.Leu677Pro)	FKBP15 (L677P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622386	NM_015258.2(FKBP15):c.1895T>G (p.Leu632Trp)	FKBP15 (L632W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095297	NM_015258.2(FKBP15):c.1841A>G (p.Glu614Gly)	FKBP15 (E614G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549074	NM_015258.2(FKBP15):c.1821G>C (p.Glu607Asp)	FKBP15 (E607D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618761	NM_015258.2(FKBP15):c.1763T>G (p.Ile588Arg)	FKBP15 (I588R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275254	NM_015258.2(FKBP15):c.1759C>T (p.Arg587Trp)	FKBP15 (R587W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471078	NM_015258.2(FKBP15):c.1733A>T (p.Lys578Met)	FKBP15 (K578M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367903	NM_015258.2(FKBP15):c.1706G>A (p.Arg569Gln)	FKBP15 (R569Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396511	NM_015258.2(FKBP15):c.1429G>A (p.Val477Ile)	FKBP15 (V477I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263704	NM_015258.2(FKBP15):c.1342G>T (p.Asp448Tyr)	FKBP15, LOC126860733 (D448Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095296	NM_015258.2(FKBP15):c.1280C>T (p.Pro427Leu)	FKBP15, LOC126860733 (P427L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350350	NM_015258.2(FKBP15):c.1280C>G (p.Pro427Arg)	FKBP15, LOC126860733 (P427R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278939	NM_015258.2(FKBP15):c.1222G>A (p.Val408Ile)	FKBP15, LOC126860733 (V408I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2338343	NM_015258.2(FKBP15):c.1166A>G (p.Glu389Gly)	FKBP15 (E389G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278953	NM_015258.2(FKBP15):c.1145A>G (p.Gln382Arg)	FKBP15 (Q382R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095295	NM_015258.2(FKBP15):c.1096T>C (p.Ser366Pro)	FKBP15 (S366P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306368	NM_015258.2(FKBP15):c.994C>T (p.Pro332Ser)	FKBP15 (P332S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 873211	NM_015258.2(FKBP15):c.865-269A>T	FKBP15	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3095309	NM_015258.2(FKBP15):c.827C>T (p.Thr276Met)	FKBP15 (T276M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278956	NM_015258.2(FKBP15):c.824C>T (p.Ala275Val)	FKBP15 (A275V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278955	NM_015258.2(FKBP15):c.823G>T (p.Ala275Ser)	FKBP15 (A275S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3278954	NM_015258.2(FKBP15):c.817A>G (p.Thr273Ala)	FKBP15 (T273A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539390	NM_015258.2(FKBP15):c.790G>A (p.Val264Ile)	FKBP15 (V264I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404176	NM_015258.2(FKBP15):c.735G>T (p.Met245Ile)	FKBP15 (M245I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265256	NM_015258.2(FKBP15):c.655G>A (p.Asp219Asn)	FKBP15 (D219N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095308	NM_015258.2(FKBP15):c.623T>C (p.Leu208Pro)	FKBP15 (L208P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362196	NM_015258.2(FKBP15):c.619T>C (p.Trp207Arg)	FKBP15 (W207R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589460	NM_015258.2(FKBP15):c.616G>A (p.Gly206Ser)	FKBP15 (G206S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2411691	NM_015258.2(FKBP15):c.616G>C (p.Gly206Arg)	FKBP15 (G206R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352058	NM_015258.2(FKBP15):c.500T>C (p.Val167Ala)	FKBP15 (V167A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095307	NM_015258.2(FKBP15):c.403C>T (p.Arg135Trp)	FKBP15 (R135W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095301	NM_015258.2(FKBP15):c.289G>A (p.Gly97Ser)	FKBP15 (G97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095299	NM_015258.2(FKBP15):c.275A>G (p.Lys92Arg)	FKBP15 (K92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278943	NM_015258.2(FKBP15):c.253T>C (p.Tyr85His)	FKBP15 (Y85H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542074	NM_015258.2(FKBP15):c.242A>G (p.His81Arg)	FKBP15 (H81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207217	NM_015258.2(FKBP15):c.89C>T (p.Ala30Val)	FKBP15 (A30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 873240	NM_015258.2(FKBP15):c.54-172A>C	FKBP15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1707440	GRCh37/hg19 9q31.3-32(chr9:113673200-115935268)x1	DNAJC25, DNAJC25-GNG10 +19 more	Copy number loss	See cases	GUncertain significance
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527544	GRCh37/hg19 9q32(chr9:115883313-116179965)	ALAD, BSPRY +10 more	Copy number gain	not specified	GUncertain significance

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