ClinVar for Gene (Select 26086) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282542	NM_001145638.3(GPSM1):c.497A>G (p.Asn166Ser)	GPSM1 (N166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282541	NM_001145638.3(GPSM1):c.683C>G (p.Ala228Gly)	GPSM1 (A228G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282540	NM_001145638.3(GPSM1):c.463G>T (p.Val155Leu)	GPSM1 (V155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282539	NM_001145638.3(GPSM1):c.1760G>A (p.Arg587Gln)	GPSM1 (R587Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282538	NM_001145638.3(GPSM1):c.137C>T (p.Thr46Ile)	GPSM1 (T46I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282537	NM_001145638.3(GPSM1):c.1600G>C (p.Glu534Gln)	GPSM1 (E25Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282536	NM_001145638.3(GPSM1):c.808G>A (p.Glu270Lys)	GPSM1 (E270K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238707	GRCh38/hg38 9q34.3(chr9:135203306-138100471)	LOC130003123, LOC130003124 +345 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238701	GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	ABCA2, AGPAT2 +388 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238700	GRCh38/hg38 9q34.3(chr9:136032451-138125938)	LOC130003044, LOC130003045 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	EHMT1, ENTPD2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238669	GRCh38/hg38 9q34.3(chr9:135954288-138125938)	LOC130003073, LOC130003074 +310 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238658	GRCh38/hg38 9q34.3(chr9:135969078-138104469)	LOC126860801, LOC129390118 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3102064	NM_001145638.3(GPSM1):c.952A>G (p.Ile318Val)	GPSM1 (I318V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102063	NM_001145638.3(GPSM1):c.923C>T (p.Ala308Val)	GPSM1 (A308V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102062	NM_001145638.3(GPSM1):c.791G>A (p.Arg264His)	GPSM1 (R264H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102061	NM_001145638.3(GPSM1):c.742G>A (p.Glu248Lys)	GPSM1 (E248K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102060	NM_001145638.3(GPSM1):c.620C>T (p.Ala207Val)	GPSM1 (A207V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102059	NM_001145638.3(GPSM1):c.486A>C (p.Gln162His)	GPSM1 (Q162H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102058	NM_001145638.3(GPSM1):c.456C>G (p.Ile152Met)	GPSM1 (I152M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102057	NM_001145638.3(GPSM1):c.272A>T (p.His91Leu)	GPSM1 (H91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102056	NM_001145638.3(GPSM1):c.251G>A (p.Arg84Gln)	GPSM1 (R84Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102055	NM_001145638.3(GPSM1):c.1960G>A (p.Gly654Arg)	GPSM1 (G145R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102054	NM_001145638.3(GPSM1):c.1834G>A (p.Asp612Asn)	GPSM1 (D103N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102053	NM_001145638.3(GPSM1):c.1567G>A (p.Gly523Arg)	GPSM1 (G14R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102051	NM_001145638.3(GPSM1):c.1534G>A (p.Asp512Asn)	GPSM1 (D512N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102050	NM_001145638.3(GPSM1):c.1276C>T (p.Arg426Trp)	GPSM1 (R426W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102049	NM_001145638.3(GPSM1):c.1031G>A (p.Arg344His)	GPSM1 (R344H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
Select item 2659731	NM_001145638.3(GPSM1):c.1208-6C>T	GPSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2617681	NM_001145638.3(GPSM1):c.1160G>T (p.Ser387Ile)	GPSM1 (S387I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608882	NM_001145638.3(GPSM1):c.17C>T (p.Pro6Leu)	GPSM1 (P6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602848	NM_001145638.3(GPSM1):c.1085T>C (p.Ile362Thr)	GPSM1 (I362T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598131	NM_001145638.3(GPSM1):c.1078C>G (p.Gln360Glu)	GPSM1 (Q360E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594001	NM_001145638.3(GPSM1):c.1681C>T (p.Arg561Cys)	GPSM1 (R561C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592868	NM_001145638.3(GPSM1):c.445C>T (p.Leu149Phe)	GPSM1 (L149F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592444	NM_001145638.3(GPSM1):c.941G>A (p.Arg314Gln)	GPSM1 (R314Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591229	NM_001145638.3(GPSM1):c.502G>A (p.Ala168Thr)	GPSM1 (A168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589817	NM_001145638.3(GPSM1):c.613C>T (p.Arg205Cys)	GPSM1 (R205C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589530	NM_001145638.3(GPSM1):c.545G>A (p.Arg182Gln)	GPSM1 (R182Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559673	NM_001145638.3(GPSM1):c.1441C>T (p.His481Tyr)	GPSM1 (H481Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551066	NM_001145638.3(GPSM1):c.1454C>T (p.Thr485Met)	GPSM1 (T485M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534122	NM_001145638.3(GPSM1):c.1643C>T (p.Thr548Ile)	GPSM1 (T39I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525966	NM_001145638.3(GPSM1):c.1930C>T (p.Arg644Cys)	GPSM1 (R135C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518059	NM_001145638.3(GPSM1):c.163G>A (p.Val55Met)	GPSM1 (V55M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516937	NM_001145638.3(GPSM1):c.1375C>T (p.Pro459Ser)	GPSM1 (P459S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514193	NM_001145638.3(GPSM1):c.1359G>T (p.Arg453Ser)	GPSM1 (R453S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513741	NM_001145638.3(GPSM1):c.1841A>G (p.Gln614Arg)	GPSM1 (Q614R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487531	NM_001145638.3(GPSM1):c.2024G>A (p.Ser675Asn)	GPSM1 (S675N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473478	NM_001145638.3(GPSM1):c.1906C>G (p.Leu636Val)	GPSM1 (L127V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468349	NM_001145638.3(GPSM1):c.686C>T (p.Thr229Met)	GPSM1 (T229M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	STKLD1, STPG3 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	NOXA1, NPDC1 +85 more	Deletion	Adams-Oliver syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2423367	NC_000009.11:g.(?_139089171)_(141016451_?)del	ABCA2, AGPAT2 +73 more	Deletion	Rafiq syndrome	GPathogenic
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	REXO4, RNU6ATAC +100 more	Duplication	Tuberous sclerosis 1 +4 more	GUncertain significance
Select item 2403298	NM_001145638.3(GPSM1):c.1984G>A (p.Gly662Ser)	GPSM1 (G153S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402544	NM_001145638.3(GPSM1):c.523G>A (p.Gly175Arg)	GPSM1 (G175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392329	NM_001145638.3(GPSM1):c.1381G>A (p.Ala461Thr)	GPSM1 (A461T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387029	NM_001145638.3(GPSM1):c.712A>G (p.Ile238Val)	GPSM1 (I238V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383692	NM_001145638.3(GPSM1):c.1429G>A (p.Asp477Asn)	GPSM1 (D477N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372241	NM_001145638.3(GPSM1):c.1988C>T (p.Pro663Leu)	GPSM1 (P154L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368847	NM_001145638.3(GPSM1):c.1436G>A (p.Arg479Gln)	GPSM1 (R479Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364884	NM_001145638.3(GPSM1):c.790C>T (p.Arg264Cys)	GPSM1 (R264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363598	NM_001145638.3(GPSM1):c.1309G>A (p.Asp437Asn)	GPSM1 (D437N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355777	NM_001145638.3(GPSM1):c.838C>T (p.Arg280Trp)	GPSM1 (R280W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352262	NM_001145638.3(GPSM1):c.1753C>A (p.His585Asn)	GPSM1 (H585N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350051	NM_001145638.3(GPSM1):c.1555G>A (p.Asp519Asn)	GPSM1 (D519N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338036	NM_001145638.3(GPSM1):c.1924G>A (p.Ala642Thr)	GPSM1 (A133T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328560	NM_001145638.3(GPSM1):c.1321C>T (p.Pro441Ser)	GPSM1 (P441S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319680	NM_001145638.3(GPSM1):c.223G>A (p.Ala75Thr)	GPSM1 (A75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306896	NM_001145638.3(GPSM1):c.1179G>T (p.Lys393Asn)	GPSM1 (K393N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303448	NM_001145638.3(GPSM1):c.1692C>A (p.Asp564Glu)	GPSM1 (D564E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282093	NM_001145638.3(GPSM1):c.392G>A (p.Arg131Gln)	GPSM1 (R131Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263235	NM_001145638.3(GPSM1):c.859G>A (p.Val287Met)	GPSM1 (V287M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245323	NM_001145638.3(GPSM1):c.1896C>G (p.Asp632Glu)	GPSM1 (D123E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241532	NM_001145638.3(GPSM1):c.463G>A (p.Val155Met)	GPSM1 (V155M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236077	NM_001145638.3(GPSM1):c.1094G>T (p.Arg365Leu)	GPSM1 (R365L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231211	NM_001145638.3(GPSM1):c.1454C>G (p.Thr485Arg)	GPSM1 (T485R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227338	NM_001145638.3(GPSM1):c.2021C>T (p.Ala674Val)	GPSM1 (A674V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220069	NM_001145638.3(GPSM1):c.839G>A (p.Arg280Gln)	GPSM1 (R280Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219821	NM_001145638.3(GPSM1):c.430G>A (p.Gly144Arg)	GPSM1 (G144R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217354	NM_001145638.3(GPSM1):c.1622C>T (p.Ser541Leu)	GPSM1 (S541L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216282	NM_001145638.3(GPSM1):c.704G>A (p.Arg235His)	GPSM1 (R235H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214764	NM_001145638.3(GPSM1):c.41G>A (p.Gly14Asp)	GPSM1 (G14D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LOC124375251, LOC126860788 +265 more	Copy number loss	See cases	GPathogenic

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