ClinVar for Gene (Select 3309) - ClinVar

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

Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284949	NM_005347.5(HSPA5):c.1304A>G (p.Lys435Arg)	HSPA5 (K435R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107342	NM_005347.5(HSPA5):c.952T>G (p.Phe318Val)	HSPA5 (F318V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107341	NM_005347.5(HSPA5):c.938A>G (p.Tyr313Cys)	HSPA5 (Y313C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107340	NM_005347.5(HSPA5):c.937T>C (p.Tyr313His)	HSPA5 (Y313H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107338	NM_005347.5(HSPA5):c.1955A>T (p.Asp652Val)	HSPA5 (D652V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107337	NM_005347.5(HSPA5):c.1765G>A (p.Glu589Lys)	HSPA5 (E589K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107336	NM_005347.5(HSPA5):c.1673G>T (p.Arg558Leu)	HSPA5 (R558L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107335	NM_005347.5(HSPA5):c.1672C>T (p.Arg558Cys)	HSPA5 (R558C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107334	NM_005347.5(HSPA5):c.1312C>T (p.Pro438Ser)	HSPA5 (P438S)	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 2617643	NM_005347.5(HSPA5):c.1759T>C (p.Ser587Pro)	HSPA5 (S587P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538770	NM_005347.5(HSPA5):c.1837A>G (p.Ile613Val)	HSPA5 (I613V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515941	NM_005347.5(HSPA5):c.1956T>A (p.Asp652Glu)	HSPA5 (D652E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489583	NM_005347.5(HSPA5):c.1156C>T (p.Arg386Cys)	HSPA5 (R386C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357498	NM_005347.5(HSPA5):c.1844A>T (p.Asp615Val)	HSPA5 (D615V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293238	NM_005347.5(HSPA5):c.755A>G (p.His252Arg)	HSPA5 (H252R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808695	GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1	ADGRD2, ANGPTL2 +59 more	Copy number loss	not provided	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 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)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 786414	NM_005347.5(HSPA5):c.117C>T (p.Tyr39=)	HSPA5, LOC113839506	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770390	NM_005347.5(HSPA5):c.1587C>T (p.Asp529=)	HSPA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 750318	NM_005347.5(HSPA5):c.48G>A (p.Ala16=)	HSPA5, LOC113839506	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739373	NM_005347.5(HSPA5):c.1670A>G (p.Glu557Gly)	HSPA5 (E557G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 708074	NM_005347.5(HSPA5):c.1802A>T (p.Lys601Met)	HSPA5 (K601M)	Single nucleotide variant (missense variant)	not provided	GBenign
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 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 563608	GRCh37/hg19 9q33.3(chr9:127782540-128008126)x3	RABEPK, PPP6C +2 more	Copy number gain	not provided	GUncertain significance
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 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 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	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +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 153090	GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1	ADGRD2, ARPC5L +172 more	Copy number loss	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 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	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 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +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 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 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 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 47