ClinVar for Gene (Select 572558) - ClinVar

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

Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306022	NM_021965.4(PGM5):c.118T>C (p.Tyr40His)	PGM5, PGM5-AS1 (Y40H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211868	NM_021965.4(PGM5):c.221C>A (p.Thr74Lys)	PGM5, PGM5-AS1 (T74K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614388	NM_021965.4(PGM5):c.117C>G (p.Asn39Lys)	PGM5, PGM5-AS1 (N39K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550131	NM_021965.4(PGM5):c.186G>T (p.Met62Ile)	PGM5, PGM5-AS1 (M62I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458700	NM_021965.4(PGM5):c.94G>A (p.Gly32Ser)	PGM5, PGM5-AS1 (G32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382747	NM_021965.4(PGM5):c.49G>A (p.Glu17Lys)	PGM5, PGM5-AS1 (E17K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347296	NM_021965.4(PGM5):c.202G>A (p.Gly68Ser)	PGM5, PGM5-AS1 (G68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258318	NM_021965.4(PGM5):c.52G>C (p.Asp18His)	PGM5, PGM5-AS1 (D18H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224001	NM_021965.4(PGM5):c.76G>A (p.Gly26Ser)	PGM5, PGM5-AS1 (G26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207257	NM_021965.4(PGM5):c.40G>A (p.Ala14Thr)	PGM5, PGM5-AS1 (A14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1278897	NM_021965.4(PGM5):c.-32G>A	PGM5, PGM5-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC130001810, LOC130001811 +1213 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	PUM3, QNG1 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	ACER2, ACO1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC113839555, LOC113839556 +1119 more	Copy number gain	See cases	GPathogenic
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001752, LOC130001753 +1005 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 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: 25