ERP44[gene] - ClinVar

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Items: 59

	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 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 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 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	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 57370	GRCh38/hg38 9q22.33-31.1(chr9:99465640-100281736)x1	ERP44, INVS +21 more	Copy number loss	See cases	GUncertain significance
Select item 3090362	NM_015051.3(ERP44):c.1208G>A (p.Arg403Gln)	ERP44 (R403Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458776	NM_015051.3(ERP44):c.1142G>A (p.Ser381Asn)	ERP44 (S381N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611932	NM_015051.3(ERP44):c.1054C>T (p.His352Tyr)	ERP44 (H352Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600014	NM_015051.3(ERP44):c.1042G>A (p.Val348Ile)	ERP44 (V348I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356345	NM_015051.3(ERP44):c.887T>G (p.Phe296Cys)	ERP44 (F296C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090369	NM_015051.3(ERP44):c.863T>A (p.Ile288Lys)	ERP44 (I288K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090368	NM_015051.3(ERP44):c.589G>C (p.Asp197His)	ERP44 (D197H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409965	NM_015051.3(ERP44):c.580G>T (p.Ala194Ser)	ERP44 (A194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090367	NM_015051.3(ERP44):c.488T>C (p.Ile163Thr)	ERP44 (I163T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388746	NM_015051.3(ERP44):c.479A>G (p.Lys160Arg)	ERP44 (K160R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090366	NM_015051.3(ERP44):c.461C>T (p.Thr154Ile)	ERP44 (T154I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544491	NM_015051.3(ERP44):c.426C>A (p.Asp142Glu)	ERP44 (D142E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274952	NM_015051.3(ERP44):c.332A>G (p.Lys111Arg)	ERP44 (K111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090363	NM_015051.3(ERP44):c.314G>A (p.Ser105Asn)	ERP44 (S105N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328662	NM_015051.3(ERP44):c.248A>G (p.Asn83Ser)	ERP44 (N83S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396554	NM_015051.3(ERP44):c.134A>G (p.Asn45Ser)	ERP44 (N45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259953	NM_015051.3(ERP44):c.74C>T (p.Thr25Ile)	ERP44 (T25I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090365	NM_015051.3(ERP44):c.34C>T (p.Leu12Phe)	ERP44 (L12F)	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 3063058	GRCh37/hg19 9q31.1-31.2(chr9:102606857-109839724)x1	ABCA1, ALDOB +34 more	Copy number loss	not specified	GPathogenic
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 2425182	NC_000009.11:g.(?_100190748)_(103062956_?)dup	ALG2, ANKS6 +22 more	Duplication	Congenital myasthenic syndrome 14 +2 more	GUncertain significance
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 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1459792	NC_000009.11:g.(?_100190748)_(103062956_?)del	SEC61B, STX17 +22 more	Deletion	Nephronophthisis	GPathogenic
Select item 1341973	GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1	ALDOB, ALG2 +87 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 1341248	GRCh37/hg19 9q31.1-31.2(chr9:102858276-110624997)x3	ABCA1, ALDOB +34 more	Copy number gain	not provided	GUncertain significance
Select item 997816	Single allele	PRXL2C, TBC1D2 +55 more	Deletion	Intellectual disability	GPathogenic
Select item 929316	GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1	TSTD2, XPA +84 more	Copy number loss	See cases	GPathogenic
Select item 815273	GRCh37/hg19 9q31.1(chr9:102756975-103044521)x3	INVS, ERP44	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 686307	GRCh37/hg19 9q31.1(chr9:102756663-103038495)x3	ERP44, INVS	Copy number gain	not provided	GUncertain significance
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 442793	GRCh37/hg19 9q22.32-31.1(chr9:97553176-102919383)x3	ALG2, ANKS6 +40 more	Copy number gain	See cases	GLikely pathogenic
Select item 402241	Single allele	ERP44, INVS	Deletion	Infantile nephronophthisis	GLikely pathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 59