THOP1[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 2300770	NM_003249.5(THOP1):c.40G>A (p.Ala14Thr)	THOP1 (A14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470207	NM_003249.5(THOP1):c.74G>A (p.Arg25Gln)	THOP1 (R25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377262	NM_003249.5(THOP1):c.208G>A (p.Asp70Asn)	THOP1 (D70N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481630	NM_003249.5(THOP1):c.220A>G (p.Thr74Ala)	THOP1 (T74A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519868	NM_003249.5(THOP1):c.224A>G (p.Tyr75Cys)	THOP1 (Y75C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404589	NM_003249.5(THOP1):c.325G>A (p.Asp109Asn)	THOP1 (D109N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317514	NM_003249.5(THOP1):c.344G>C (p.Arg115Thr)	THOP1 (R115T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302189	NM_003249.5(THOP1):c.397T>C (p.Ser133Pro)	THOP1 (S133P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398548	NM_003249.5(THOP1):c.416C>T (p.Ala139Val)	THOP1 (A139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177118	NM_003249.5(THOP1):c.448C>T (p.Arg150Trp)	THOP1 (R150W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286201	NM_003249.5(THOP1):c.499A>T (p.Ile167Phe)	THOP1 (I167F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277761	NM_003249.5(THOP1):c.575C>T (p.Thr192Met)	THOP1 (T192M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325948	NM_003249.5(THOP1):c.581A>G (p.Gln194Arg)	THOP1 (Q194R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177119	NM_003249.5(THOP1):c.740G>A (p.Arg247Gln)	THOP1 (R247Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177120	NM_003249.5(THOP1):c.745A>G (p.Lys249Glu)	THOP1 (K249E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361467	NM_003249.5(THOP1):c.863G>A (p.Ser288Asn)	THOP1 (S288N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328136	NM_003249.5(THOP1):c.871G>A (p.Val291Met)	THOP1 (V291M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291140	NM_003249.5(THOP1):c.875C>T (p.Ala292Val)	THOP1 (A292V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359504	NM_003249.5(THOP1):c.896C>T (p.Ala299Val)	THOP1 (A299V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290950	NM_003249.5(THOP1):c.910C>A (p.Pro304Thr)	THOP1 (P304T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368371	NM_003249.5(THOP1):c.934G>A (p.Val312Met)	THOP1 (V312M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359601	NM_003249.5(THOP1):c.943G>A (p.Glu315Lys)	THOP1 (E315K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594431	NM_003249.5(THOP1):c.952C>T (p.Arg318Cys)	THOP1 (R318C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264466	NM_003249.5(THOP1):c.953G>A (p.Arg318His)	THOP1 (R318H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387266	NM_003249.5(THOP1):c.967C>T (p.Arg323Cys)	THOP1 (R323C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248969	NM_003249.5(THOP1):c.998G>A (p.Arg333His)	THOP1 (R333H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518026	NM_003249.5(THOP1):c.1021A>G (p.Met341Val)	THOP1 (M341V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386093	NM_003249.5(THOP1):c.1042C>T (p.Arg348Cys)	THOP1 (R348C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037413	NM_003249.5(THOP1):c.1048T>C (p.Cys350Arg)	THOP1 (C350R)	Single nucleotide variant (missense variant)	THOP1-related disorder	GLikely benign
Select item 2618524	NM_003249.5(THOP1):c.1097C>T (p.Thr366Met)	THOP1 (T366M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541503	NM_003249.5(THOP1):c.1112G>A (p.Gly371Asp)	THOP1 (G371D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177110	NM_003249.5(THOP1):c.1159G>A (p.Ala387Thr)	THOP1 (A387T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281863	NM_003249.5(THOP1):c.1174G>A (p.Glu392Lys)	THOP1 (E392K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325947	NM_003249.5(THOP1):c.1184G>A (p.Arg395Gln)	THOP1 (R395Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325950	NM_003249.5(THOP1):c.1225G>C (p.Gly409Arg)	THOP1 (G409R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591786	NM_003249.5(THOP1):c.1297G>A (p.Gly433Ser)	THOP1 (G433S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177111	NM_003249.5(THOP1):c.1337C>T (p.Ala446Val)	THOP1 (A446V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356779	NM_003249.5(THOP1):c.1412A>T (p.Tyr471Phe)	THOP1 (Y471F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177112	NM_003249.5(THOP1):c.1442A>G (p.Gln481Arg)	THOP1 (Q481R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461494	NM_003249.5(THOP1):c.1454A>T (p.Gln485Leu)	THOP1 (Q485L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393341	NM_003249.5(THOP1):c.1508C>T (p.Ala503Val)	THOP1 (A503V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495008	NM_003249.5(THOP1):c.1537T>C (p.Trp513Arg)	THOP1 (W513R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319279	NM_003249.5(THOP1):c.1567C>T (p.Arg523Trp)	THOP1 (R523W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265038	NM_003249.5(THOP1):c.1597C>T (p.Arg533Trp)	THOP1 (R533W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325945	NM_003249.5(THOP1):c.1598G>A (p.Arg533Gln)	THOP1 (R533Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376125	NM_003249.5(THOP1):c.1676A>G (p.Lys559Arg)	THOP1 (K559R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177113	NM_003249.5(THOP1):c.1696A>C (p.Thr566Pro)	THOP1 (T566P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491294	NM_003249.5(THOP1):c.1697C>G (p.Thr566Arg)	THOP1 (T566R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325946	NM_003249.5(THOP1):c.1717G>A (p.Ala573Thr)	THOP1 (A573T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177114	NM_003249.5(THOP1):c.1733G>A (p.Arg578Gln)	THOP1 (R578Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332920	NM_003249.5(THOP1):c.1756G>T (p.Val586Phe)	THOP1 (V586F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560306	NM_003249.5(THOP1):c.1783C>T (p.Pro595Ser)	THOP1 (P595S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459722	NM_003249.5(THOP1):c.1794C>G (p.Phe598Leu)	THOP1 (F598L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177115	NM_003249.5(THOP1):c.1838T>C (p.Leu613Pro)	THOP1 (L613P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325949	NM_003249.5(THOP1):c.1850T>C (p.Val617Ala)	THOP1 (V617A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509277	NM_003249.5(THOP1):c.1874C>T (p.Thr625Met)	THOP1 (T625M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318864	NM_003249.5(THOP1):c.1991G>A (p.Arg664His)	THOP1 (R664H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473254	NM_003249.5(THOP1):c.2020A>C (p.Ser674Arg)	THOP1 (S674R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177117	NM_003249.5(THOP1):c.2047G>A (p.Glu683Lys)	THOP1 (E683K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592161	NM_003249.5(THOP1):c.2051C>T (p.Pro684Leu)	THOP1 (P684L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248515	NC_000019.9:g.(?_2430909)_(4171966_?)del	APBA3, ATCAY +42 more	Deletion	RASopathy	GUncertain significance
Select item 3248492	NC_000019.9:g.(?_2430909)_(3121177_?)dup	DIRAS1, GADD45B +13 more	Duplication	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 929386	GRCh37/hg19 19p13.3(chr19:2273150-2897133)x3	DIRAS1, GADD45B +15 more	Copy number gain	See cases	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
Select item 688246	GRCh37/hg19 19p13.3(chr19:2389731-2925532)x1	DIRAS1, GADD45B +10 more	Copy number loss	not provided	GUncertain significance
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 635917	NC_000019.9:g.1406030_3597207dup	AP3D1, SPPL2B +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 635915	Single allele	ATCAY, CACTIN +50 more	Deletion	Internal malformations	GUncertain significance
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	NDUFS7, OAZ1 +100 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 83