ClinVar for Gene (Select 708) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3135713	NM_001212.4(C1QBP):c.733G>A (p.Asp245Asn)	C1QBP (D245N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063503	GRCh37/hg19 17p13.2(chr17:5308495-5619495)x3	C1QBP, DERL2 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	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 3016666	NM_001212.4(C1QBP):c.787C>T (p.Leu263=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009624	NM_001212.4(C1QBP):c.678C>T (p.Leu226=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	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 2983225	NM_001212.4(C1QBP):c.699+17G>T	C1QBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971730	NM_001212.4(C1QBP):c.700-20G>A	C1QBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955360	NM_001212.4(C1QBP):c.591C>T (p.Asp197=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905520	NM_001212.4(C1QBP):c.577-1G>A	C1QBP	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2899087	NM_001212.4(C1QBP):c.700-6T>C	C1QBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896276	NM_001212.4(C1QBP):c.387C>A (p.Ile129=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895114	NM_001212.4(C1QBP):c.405T>C (p.Ile135=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881601	NM_001212.4(C1QBP):c.383+8C>G	C1QBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859087	NM_001212.4(C1QBP):c.450G>A (p.Ser150=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828246	NM_001212.4(C1QBP):c.384-3del	C1QBP	Deletion (intron variant)	not provided	GLikely benign
Select item 2828245	NM_001212.4(C1QBP):c.429_448del (p.Asp144fs)	C1QBP (D144fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2824546	NM_001212.4(C1QBP):c.138C>T (p.Leu46=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804600	NM_001212.4(C1QBP):c.383+7A>G	C1QBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796923	NM_001212.4(C1QBP):c.792G>A (p.Glu264=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783861	NM_001212.4(C1QBP):c.180G>A (p.Arg60=)	C1QBP	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 2768062	NM_001212.4(C1QBP):c.375C>T (p.Ala125=)	C1QBP	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 2723320	NM_001212.4(C1QBP):c.753T>C (p.Thr251=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716989	NM_001212.4(C1QBP):c.390G>C (p.Thr130=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647299	NM_001212.4(C1QBP):c.237C>T (p.Asp79=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2557997	NM_001212.4(C1QBP):c.279A>C (p.Glu93Asp)	C1QBP (E93D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2547625	NM_001212.4(C1QBP):c.827A>G (p.Lys276Arg)	C1QBP (K276R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2484995	NM_001212.4(C1QBP):c.805A>G (p.Ile269Val)	C1QBP (I269V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439614	NM_001212.4(C1QBP):c.576+2T>A	C1QBP	Single nucleotide variant (splice donor variant)	not provided	GConflicting classifications of pathogenicity
Select item 2439613	NM_001212.4(C1QBP):c.478-7T>G	C1QBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2427557	NC_000017.10:g.(?_5289526)_(6616652_?)dup	AIPL1, C17orf100 +14 more	Duplication	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2423977	NC_000017.10:g.(?_5336335)_(5337107_?)del	C1QBP, RPAIN	Deletion	not provided	GPathogenic
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 2419274	NM_001212.4(C1QBP):c.518T>C (p.Ile173Thr)	C1QBP (I173T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419154	NM_001212.4(C1QBP):c.717A>G (p.Leu239=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2359092	NM_001212.4(C1QBP):c.376G>A (p.Gly126Arg)	C1QBP (G126R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253630	NM_001212.4(C1QBP):c.843C>G (p.Ser281Arg)	C1QBP (S281R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247664	NM_001212.4(C1QBP):c.607A>C (p.Ile203Leu)	C1QBP (I203L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2216367	NM_001212.4(C1QBP):c.152G>A (p.Gly51Asp)	C1QBP (G51D)	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 2191872	NM_001212.4(C1QBP):c.390G>A (p.Thr130=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2173947	NM_001212.4(C1QBP):c.699+4A>C	C1QBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2166487	NM_001212.4(C1QBP):c.381A>G (p.Glu127=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2162711	NM_001212.4(C1QBP):c.345G>A (p.Gly115=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2154879	NM_001212.4(C1QBP):c.375C>A (p.Ala125=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2140449	NM_001212.4(C1QBP):c.102G>A (p.Pro34=)	C1QBP	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 2132385	NM_001212.4(C1QBP):c.431A>T (p.Asp144Val)	C1QBP (D144V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131507	NM_001212.4(C1QBP):c.489A>G (p.Thr163=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2124408	NM_001212.4(C1QBP):c.475G>A (p.Glu159Lys)	C1QBP (E159K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123330	NM_001212.4(C1QBP):c.431_433del (p.Asp144del)	C1QBP (D144del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2119139	NM_001212.4(C1QBP):c.113_114inv (p.Leu38Pro)	C1QBP (L38P)	Inversion (missense variant)	not provided	GUncertain significance
Select item 2109365	NM_001212.4(C1QBP):c.265G>A (p.Glu89Lys)	C1QBP (E89K)	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 2093721	NM_001212.4(C1QBP):c.484C>T (p.Leu162=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2092356	NM_001212.4(C1QBP):c.120C>T (p.Thr40=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084171	NM_001212.4(C1QBP):c.643G>A (p.Gly215Ser)	C1QBP (G215S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082480	NM_001212.4(C1QBP):c.401A>G (p.Asn134Ser)	C1QBP (N134S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2073924	NM_001212.4(C1QBP):c.646G>A (p.Glu216Lys)	C1QBP (E216K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2070505	NM_001212.4(C1QBP):c.445C>T (p.Pro149Ser)	C1QBP (P149S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069671	NM_001212.4(C1QBP):c.518T>A (p.Ile173Lys)	C1QBP (I173K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2063802	NM_001212.4(C1QBP):c.264T>C (p.Asp88=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063133	NM_001212.4(C1QBP):c.577-5_577-3del	C1QBP	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2059787	NM_001212.4(C1QBP):c.241G>A (p.Ala81Thr)	C1QBP (A81T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2057853	NM_001212.4(C1QBP):c.291G>A (p.Gln97=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054342	NM_001212.4(C1QBP):c.186C>G (p.Arg62=)	C1QBP	Single nucleotide variant (synonymous variant)	C1QBP-related disorder +1 more	GLikely benign
Select item 2053899	NM_001212.4(C1QBP):c.536A>C (p.Lys179Thr)	C1QBP (K179T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2045478	NM_001212.4(C1QBP):c.167C>G (p.Pro56Arg)	C1QBP (P56R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2028678	NM_001212.4(C1QBP):c.240_249del (p.Ala81fs)	C1QBP (A81fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2026281	NM_001212.4(C1QBP):c.276G>A (p.Glu92=)	C1QBP	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 2021460	NM_001212.4(C1QBP):c.478-7del	C1QBP	Deletion (intron variant)	not provided	GUncertain significance
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 2008963	NM_001212.4(C1QBP):c.407ACA[1] (p.Asn137del)	C1QBP (N137del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2008636	NM_001212.4(C1QBP):c.331C>T (p.Leu111=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2008473	NM_001212.4(C1QBP):c.251A>G (p.Asp84Gly)	C1QBP (D84G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001985	NM_001212.4(C1QBP):c.438GGA[1] (p.Glu148del)	C1QBP (E148del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2000801	NM_001212.4(C1QBP):c.317C>G (p.Ser106Cys)	C1QBP (S106C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978859	NM_001212.4(C1QBP):c.164G>C (p.Arg55Pro)	C1QBP (R55P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1957066	NM_001212.4(C1QBP):c.318T>A (p.Ser106=)	C1QBP	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 1943812	NM_001212.4(C1QBP):c.592G>A (p.Glu198Lys)	C1QBP (E198K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1942580	NM_001212.4(C1QBP):c.762T>C (p.Asp254=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942181	NM_001212.4(C1QBP):c.233-4C>T	C1QBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1937813	NM_001212.4(C1QBP):c.167C>T (p.Pro56Leu)	C1QBP (P56L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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