PTRH1[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	LOC130003073, LOC130003074 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130002603, LOC130002604 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 57204	GRCh38/hg38 9q33.3-34.11(chr9:126081595-127781685)x1	ANGPTL2, CFAP157 +93 more	Copy number loss	See cases	GPathogenic
Select item 663424	NC_000009.11:g.(?_130216797)_(130953151_?)dup	LOC130002656, LOC130002657 +93 more	Duplication	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002653, LOC130002654 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
Select item 2659509	NM_001374314.1(STXBP1):c.*40ATG[9]	PTRH1, STXBP1	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 2659510	NM_001374314.1(STXBP1):c.*64A>G	PTRH1, STXBP1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2240144	NM_001012502.3(CFAP157):c.160C>T (p.Arg54Trp)	CFAP157, PTRH1 (R54W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266014	NM_001012502.3(CFAP157):c.284T>G (p.Val95Gly)	PTRH1, CFAP157 (V95G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461169	NM_001012502.3(CFAP157):c.307G>A (p.Glu103Lys)	CFAP157, PTRH1 (E103K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610709	NM_001012502.3(CFAP157):c.318G>C (p.Gln106His)	CFAP157, PTRH1 (Q106H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398840	NM_001012502.3(CFAP157):c.362C>T (p.Ala121Val)	PTRH1, CFAP157 (A121V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591547	NM_001012502.3(CFAP157):c.416C>T (p.Thr139Met)	CFAP157, PTRH1 (T139M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620766	NM_001012502.3(CFAP157):c.419A>G (p.Glu140Gly)	CFAP157, PTRH1 (E140G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351103	NM_001012502.3(CFAP157):c.434G>T (p.Gly145Val)	CFAP157, PTRH1 (G145V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391245	NM_001012502.3(CFAP157):c.440A>G (p.Lys147Arg)	PTRH1, CFAP157 (K147R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275624	NM_001012502.3(CFAP157):c.441G>C (p.Lys147Asn)	PTRH1, CFAP157 (K147N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276930	NM_001012502.3(CFAP157):c.463C>T (p.Arg155Trp)	CFAP157, PTRH1 (R155W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217603	NM_001012502.3(CFAP157):c.521A>G (p.Lys174Arg)	CFAP157, PTRH1 (K174R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515953	NM_001012502.3(CFAP157):c.608A>G (p.Gln203Arg)	CFAP157, PTRH1 (Q203R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393779	NM_001012502.3(CFAP157):c.857T>A (p.Ile286Asn)	PTRH1, CFAP157 (I286N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286785	NM_001012502.3(CFAP157):c.867G>A (p.Met289Ile)	CFAP157, PTRH1 (M289I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272283	NM_001012502.3(CFAP157):c.923G>A (p.Arg308His)	PTRH1, CFAP157 (R308H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599657	NM_001012502.3(CFAP157):c.967G>A (p.Val323Met)	CFAP157, PTRH1 (V323M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467910	NM_001012502.3(CFAP157):c.1041G>T (p.Gln347His)	PTRH1, CFAP157 (Q347H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520293	NM_001012502.3(CFAP157):c.1079G>A (p.Arg360Gln)	CFAP157, PTRH1 (R360Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399187	NM_001012502.3(CFAP157):c.1094C>T (p.Ala365Val)	CFAP157, PTRH1 (A365V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536680	NM_001012502.3(CFAP157):c.1139T>C (p.Met380Thr)	CFAP157, PTRH1 (M380T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2567118	NM_001012502.3(CFAP157):c.1186T>C (p.Trp396Arg)	CFAP157, PTRH1 (W396R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406738	NM_001012502.3(CFAP157):c.1241C>T (p.Thr414Met)	PTRH1, CFAP157 (T414M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391719	NM_001012502.3(CFAP157):c.1336T>C (p.Ser446Pro)	PTRH1, CFAP157 (S446P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205177	NM_001012502.3(CFAP157):c.1495C>T (p.Arg499Cys)	PTRH1, CFAP157 (R499C)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2357700	NM_001002913.3(PTRH1):c.581G>A (p.Arg194Gln)	PTRH1, CFAP157 (R163Q +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2605223	NM_001002913.3(PTRH1):c.538T>A (p.Phe180Ile)	CFAP157, PTRH1 (F180I)	Single nucleotide variant (missense variant +4 more)	Inborn genetic diseases	GUncertain significance
Select item 2243353	NM_001002913.3(PTRH1):c.517C>G (p.Gln173Glu)	CFAP157, PTRH1 (Q173E +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2466160	NM_001002913.3(PTRH1):c.497C>T (p.Pro166Leu)	CFAP157, PTRH1 (P166L +2 more)	Single nucleotide variant (missense variant +4 more)	Inborn genetic diseases	GUncertain significance
Select item 2350439	NM_001002913.3(PTRH1):c.433C>T (p.Arg145Cys)	CFAP157, PTRH1 (R145C)	Single nucleotide variant (missense variant +4 more)	Inborn genetic diseases	GUncertain significance
Select item 2374925	NM_001002913.3(PTRH1):c.425A>G (p.Asn142Ser)	CFAP157, PTRH1 (M109V +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2483049	NM_001002913.3(PTRH1):c.317C>T (p.Ala106Val)	CFAP157, PTRH1 (A106V)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2555547	NM_001002913.3(PTRH1):c.224A>T (p.Asp75Val)	CFAP157, PTRH1 (D75V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2360385	NM_001002913.3(PTRH1):c.208C>T (p.Arg70Trp)	CFAP157, PTRH1 (R70W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2598894	NM_001002913.3(PTRH1):c.203G>T (p.Arg68Leu)	CFAP157, PTRH1 (R68L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2398817	NM_001002913.3(PTRH1):c.192G>C (p.Glu64Asp)	CFAP157, PTRH1 (E64D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2474235	NM_001002913.3(PTRH1):c.73C>T (p.Arg25Cys)	CFAP157, LOC130002654 +1 more (R25C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2541654	NM_001002913.3(PTRH1):c.23G>A (p.Gly8Asp)	CFAP157, LOC130002654 +1 more (G8D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 585041	NM_001002913.3(PTRH1):c.20T>C (p.Leu7Ser)	CFAP157, LOC130002654 +1 more (L7S)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1527563	GRCh37/hg19 9q34.11(chr9:130392953-130526044)	CFAP157, PTRH1 +4 more	Copy number loss	not specified	GPathogenic
Select item 1527562	GRCh37/hg19 9q34.11(chr9:130390139-132760275)	AK1, ASB6 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527561	GRCh37/hg19 9q34.11(chr9:130306022-130522616)	CFAP157, NIBAN2 +5 more	Copy number loss	not specified	GPathogenic
Select item 1527560	GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)	AK1, ANGPTL2 +29 more	Copy number loss	not specified	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1457478	NC_000009.11:g.(?_130216807)_(130953136_?)del	AK1, BBLN +22 more	Deletion	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GPathogenic
Select item 1340206	GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3	AK1, ANGPTL2 +75 more	Copy number gain	not provided	GPathogenic
Select item 1056169	NC_000009.11:g.(?_129376729)_(131016993_?)del	AK1, EEIG1 +33 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 984763	GRCh37/hg19 9q34.11(chr9:130412438-131423964)x1	COQ4, DNM1 +33 more	Copy number loss	Infantile epilepsy syndrome	GPathogenic
Select item 983307	GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1	AK1, ANGPTL2 +27 more	Copy number loss	Developmental and epileptic encephalopathy, 4 +1 more	GPathogenic
Select item 932281	GRCh37/hg19 9q34.11(chr9:130435492-130485618)x1	CFAP157, PTRH1 +2 more	Copy number loss	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 625638	GRCh37/hg19 9q34.11(chr9:130335766-130517907)	CFAP157, NIBAN2 +5 more	Copy number loss	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	SUSD3, SVEP1 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	PPP1R26, PPP3R2 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 81