Related gene-specific medical variations for Gene (Select 708) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243139	NC_000017.10:g.(?_5341423)_(5342393_?)del	C1QBP	Deletion	not provided	GPathogenic
Select item 3051455	NM_001212.4(C1QBP):c.232+3G>A	C1QBP, LOC130060074	Single nucleotide variant (intron variant)	C1QBP-related disorder	GLikely benign
Select item 3035369	NM_001212.4(C1QBP):c.-4C>T	C1QBP, LOC130060075	Single nucleotide variant (5 prime UTR variant)	C1QBP-related disorder	GLikely benign
Select item 3007896	NM_001212.4(C1QBP):c.232+17C>T	C1QBP, LOC130060074	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999410	NM_001212.4(C1QBP):c.232+14G>A	C1QBP, LOC130060074	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987842	NM_001212.4(C1QBP):c.6G>A (p.Leu2=)	C1QBP, LOC130060075	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780794	NM_001212.4(C1QBP):c.33G>A (p.Val11=)	C1QBP, LOC130060075	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725666	NM_001212.4(C1QBP):c.15G>T (p.Leu5=)	C1QBP, LOC130060075	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2532044	NM_001212.4(C1QBP):c.77C>T (p.Ser26Leu)	C1QBP, LOC130060075 (S26L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2439613	NM_001212.4(C1QBP):c.478-7T>G	C1QBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2421195	NM_001212.4(C1QBP):c.7C>A (p.Pro3Thr)	C1QBP, LOC130060075 (P3T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2238090	NM_001212.4(C1QBP):c.26C>G (p.Pro9Arg)	C1QBP, LOC130060075 (P9R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193377	NM_001212.4(C1QBP):c.218C>G (p.Ser73Trp)	C1QBP, LOC130060074 (S73W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2154678	NM_001212.4(C1QBP):c.48C>G (p.Val16=)	C1QBP, LOC130060075	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133073	NM_001212.4(C1QBP):c.206G>T (p.Cys69Phe)	C1QBP, LOC130060074 (C69F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126727	NM_001212.4(C1QBP):c.11T>A (p.Leu4Gln)	C1QBP, LOC130060075 (L4Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103920	NM_001212.4(C1QBP):c.232+20G>C	C1QBP, LOC130060074	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2076452	NM_001212.4(C1QBP):c.207T>C (p.Cys69=)	C1QBP, LOC130060074	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2051505	NM_001212.4(C1QBP):c.24G>A (p.Val8=)	C1QBP, LOC130060075	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2026259	NM_001212.4(C1QBP):c.75C>G (p.Ala25=)	C1QBP, LOC130060075	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2010619	NM_001212.4(C1QBP):c.45C>G (p.Ser15=)	C1QBP, LOC130060075	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1965752	NM_001212.4(C1QBP):c.33G>T (p.Val11=)	C1QBP, LOC130060075	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1945635	NM_001212.4(C1QBP):c.57C>T (p.Leu19=)	C1QBP, LOC130060075	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929262	NM_001212.4(C1QBP):c.232G>A (p.Gly78Arg)	C1QBP, LOC130060074 (G78R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910768	NM_001212.4(C1QBP):c.18C>G (p.Arg6=)	C1QBP, LOC130060075	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1900882	NM_001212.4(C1QBP):c.210C>G (p.Gly70=)	C1QBP, LOC130060074	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1653449	NM_001212.4(C1QBP):c.17G>T (p.Arg6Leu)	C1QBP, LOC130060075 (R6L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1551259	NM_001212.4(C1QBP):c.27C>T (p.Pro9=)	C1QBP, LOC130060075	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1234192	NM_001212.4(C1QBP):c.*147T>C	C1QBP, RPAIN	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign

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Links from Gene

Items: 29