PTRH1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 117

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 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	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +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	LOC108281127, LOC113839508 +93 more	Duplication	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002704, LOC130002705 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
Select item 2659509	NC_000009.12:g.127695056ATG[9]	PTRH1, STXBP1	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 2659510	NC_000009.12:g.127695080A>G	PTRH1, STXBP1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3143329	NM_001012502.3(CFAP157):c.10A>C (p.Lys4Gln)	CFAP157, PTRH1 (K4Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266393	NM_001012502.3(CFAP157):c.85G>A (p.Val29Met)	CFAP157, PTRH1 (V29M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3143334	NM_001012502.3(CFAP157):c.152G>T (p.Arg51Leu)	CFAP157, PTRH1 (R51L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240144	NM_001012502.3(CFAP157):c.160C>T (p.Arg54Trp)	CFAP157, PTRH1 (R54W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266397	NM_001012502.3(CFAP157):c.191T>C (p.Val64Ala)	CFAP157, PTRH1 (V64A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266398	NM_001012502.3(CFAP157):c.208C>T (p.Arg70Cys)	CFAP157, PTRH1 (R70C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266014	NM_001012502.3(CFAP157):c.284T>G (p.Val95Gly)	CFAP157, PTRH1 (V95G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143335	NM_001012502.3(CFAP157):c.292A>C (p.Ile98Leu)	CFAP157, PTRH1 (I98L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461169	NM_001012502.3(CFAP157):c.307G>A (p.Glu103Lys)	CFAP157, PTRH1 (E103K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143336	NM_001012502.3(CFAP157):c.314T>C (p.Leu105Pro)	CFAP157, PTRH1 (L105P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610709	NM_001012502.3(CFAP157):c.318G>C (p.Gln106His)	CFAP157, PTRH1 (Q106H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398840	NM_001012502.3(CFAP157):c.362C>T (p.Ala121Val)	CFAP157, PTRH1 (A121V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591547	NM_001012502.3(CFAP157):c.416C>T (p.Thr139Met)	CFAP157, PTRH1 (T139M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620766	NM_001012502.3(CFAP157):c.419A>G (p.Glu140Gly)	CFAP157, PTRH1 (E140G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143337	NM_001012502.3(CFAP157):c.425T>C (p.Ile142Thr)	CFAP157, PTRH1 (I142T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351103	NM_001012502.3(CFAP157):c.434G>T (p.Gly145Val)	CFAP157, PTRH1 (G145V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391245	NM_001012502.3(CFAP157):c.440A>G (p.Lys147Arg)	CFAP157, PTRH1 (K147R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275624	NM_001012502.3(CFAP157):c.441G>C (p.Lys147Asn)	CFAP157, PTRH1 (K147N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276930	NM_001012502.3(CFAP157):c.463C>T (p.Arg155Trp)	CFAP157, PTRH1 (R155W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217603	NM_001012502.3(CFAP157):c.521A>G (p.Lys174Arg)	CFAP157, PTRH1 (K174R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515953	NM_001012502.3(CFAP157):c.608A>G (p.Gln203Arg)	CFAP157, PTRH1 (Q203R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266396	NM_001012502.3(CFAP157):c.611G>A (p.Arg204His)	CFAP157, PTRH1 (R204H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143338	NM_001012502.3(CFAP157):c.656G>A (p.Arg219Gln)	CFAP157, PTRH1 (R219Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3266395	NM_001012502.3(CFAP157):c.709C>A (p.Gln237Lys)	CFAP157, PTRH1 (Q237K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266394	NM_001012502.3(CFAP157):c.737T>G (p.Met246Arg)	CFAP157, PTRH1 (M246R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393779	NM_001012502.3(CFAP157):c.857T>A (p.Ile286Asn)	CFAP157, PTRH1 (I286N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286785	NM_001012502.3(CFAP157):c.867G>A (p.Met289Ile)	CFAP157, PTRH1 (M289I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272283	NM_001012502.3(CFAP157):c.923G>A (p.Arg308His)	CFAP157, PTRH1 (R308H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599657	NM_001012502.3(CFAP157):c.967G>A (p.Val323Met)	CFAP157, PTRH1 (V323M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467910	NM_001012502.3(CFAP157):c.1041G>T (p.Gln347His)	CFAP157, PTRH1 (Q347H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520293	NM_001012502.3(CFAP157):c.1079G>A (p.Arg360Gln)	CFAP157, PTRH1 (R360Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399187	NM_001012502.3(CFAP157):c.1094C>T (p.Ala365Val)	PTRH1, CFAP157 (A365V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536680	NM_001012502.3(CFAP157):c.1139T>C (p.Met380Thr)	CFAP157, PTRH1 (M380T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143330	NM_001012502.3(CFAP157):c.1145G>A (p.Arg382His)	CFAP157, PTRH1 (R382H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2567118	NM_001012502.3(CFAP157):c.1186T>C (p.Trp396Arg)	CFAP157, PTRH1 (W396R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406738	NM_001012502.3(CFAP157):c.1241C>T (p.Thr414Met)	CFAP157, PTRH1 (T414M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391719	NM_001012502.3(CFAP157):c.1336T>C (p.Ser446Pro)	CFAP157, PTRH1 (S446P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266401	NM_001012502.3(CFAP157):c.1399C>T (p.Arg467Cys)	CFAP157, PTRH1 (R467C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143331	NM_001012502.3(CFAP157):c.1457G>A (p.Arg486His)	CFAP157, PTRH1 (R486H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266391	NM_001012502.3(CFAP157):c.1463G>A (p.Gly488Glu)	CFAP157, PTRH1 (G488E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266402	NM_001012502.3(CFAP157):c.1472G>A (p.Arg491Gln)	CFAP157, PTRH1 (R491Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2205177	NM_001012502.3(CFAP157):c.1495C>T (p.Arg499Cys)	CFAP157, PTRH1 (R499C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3143332	NM_001012502.3(CFAP157):c.1505G>T (p.Gly502Val)	CFAP157, PTRH1 (G502V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3143333	NM_001012502.3(CFAP157):c.1519C>T (p.Leu507Phe)	CFAP157, PTRH1 (L507F)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3266392	NM_001012502.3(CFAP157):c.1552C>T (p.Arg518Cys)	CFAP157, PTRH1 (R518C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3149721	NM_001002913.3(PTRH1):c.638G>C (p.Gly213Ala)	CFAP157, PTRH1 (G213A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149720	NM_001002913.3(PTRH1):c.611G>A (p.Arg204His)	CFAP157, PTRH1 (R204H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3311700	NM_001002913.3(PTRH1):c.610C>T (p.Arg204Cys)	CFAP157, PTRH1 (R204C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2357700	NM_001002913.3(PTRH1):c.581G>A (p.Arg194Gln)	CFAP157, PTRH1 (R163Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2605223	NM_001002913.3(PTRH1):c.538T>A (p.Phe180Ile)	CFAP157, PTRH1 (F180I)	Single nucleotide variant (missense variant +4 more)	not specified	GUncertain significance
Select item 3149719	NM_001002913.3(PTRH1):c.533G>A (p.Gly178Asp)	CFAP157, PTRH1 (A163T +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3311697	NM_001002913.3(PTRH1):c.494G>T (p.Arg165Leu)	CFAP157, PTRH1 (A132S +2 more)	Single nucleotide variant (missense variant +4 more)	not specified	GUncertain significance
Select item 2350439	NM_001002913.3(PTRH1):c.433C>T (p.Arg145Cys)	CFAP157, PTRH1 (R145C)	Single nucleotide variant (missense variant +4 more)	not specified	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)	not specified	GUncertain significance
Select item 3311698	NM_001002913.3(PTRH1):c.338C>G (p.Ala113Gly)	CFAP157, PTRH1 (A113G)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2483049	NM_001002913.3(PTRH1):c.317C>T (p.Ala106Val)	CFAP157, PTRH1 (A106V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3149716	NM_001002913.3(PTRH1):c.302G>A (p.Ser101Asn)	CFAP157, PTRH1 (S101N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2555547	NM_001002913.3(PTRH1):c.224A>T (p.Asp75Val)	CFAP157, PTRH1 (D75V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149715	NM_001002913.3(PTRH1):c.220G>C (p.Ala74Pro)	CFAP157, PTRH1 (A74P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2360385	NM_001002913.3(PTRH1):c.208C>T (p.Arg70Trp)	CFAP157, PTRH1 (R70W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2598894	NM_001002913.3(PTRH1):c.203G>T (p.Arg68Leu)	CFAP157, PTRH1 (R68L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2398817	NM_001002913.3(PTRH1):c.192G>C (p.Glu64Asp)	CFAP157, PTRH1 (E64D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149713	NM_001002913.3(PTRH1):c.118G>A (p.Gly40Arg)	CFAP157, PTRH1 (G40R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3311699	NM_001002913.3(PTRH1):c.79C>T (p.Pro27Ser)	CFAP157, LOC130002654 +1 more (P27S)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	GUncertain significance
Select item 3149718	NM_001002913.3(PTRH1):c.50T>A (p.Met17Lys)	CFAP157, LOC130002654 +1 more (M17K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149717	NM_001002913.3(PTRH1):c.49A>G (p.Met17Val)	CFAP157, LOC130002654 +1 more (M17V)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	GUncertain significance
Select item 585041	NM_001002913.3(PTRH1):c.20T>C (p.Leu7Ser)	LOC130002654, PTRH1 +1 more (L7S)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 3311696	NM_001002913.3(PTRH1):c.13G>T (p.Gly5Cys)	CFAP157, LOC130002654 +1 more (G5C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3149714	NM_001002913.3(PTRH1):c.11G>A (p.Gly4Asp)	CFAP157, LOC130002654 +1 more (G4D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3245119	NC_000009.11:g.(?_130374683)_(131329276_?)del	AK1, BBLN +32 more	Deletion	Developmental and epileptic encephalopathy, 31A +1 more	GPathogenic
Select item 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	ASS1, AK1 +70 more	Duplication	Dystonic disorder	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 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +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

<< First< Prev

Page of 2