C1QBP[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 168

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	OR1D4, OR1D5 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	C17orf107, C17orf114 +498 more	Copy number loss	See cases	GPathogenic
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 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC130060025, LOC130060026 +458 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	ABR, ABR-AS1 +604 more	Copy number gain	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	LOC130060037, LOC130060038 +291 more	Copy number loss	See cases	GPathogenic
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 153939	GRCh38/hg38 17p13.2(chr17:5252176-5761432)x3	C1QBP, DERL2 +22 more	Copy number gain	See cases	GUncertain significance
Select item 145540	GRCh38/hg38 17p13.2(chr17:5385377-5943772)x3	C1QBP, DERL2 +23 more	Copy number gain	See cases	GUncertain significance
Select item 1234192	NM_001212.4(C1QBP):c.*147T>C	C1QBP, RPAIN	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1286412	NM_001212.4(C1QBP):c.*125A>G	C1QBP	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1283700	NM_001212.4(C1QBP):c.*119dup	C1QBP	Duplication (3 prime UTR variant)	not provided	GBenign
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 1900826	NM_001212.4(C1QBP):c.838A>C (p.Lys280Gln)	C1QBP (K280Q)	Single nucleotide variant (missense variant)	not provided	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 441243	NM_001212.4(C1QBP):c.824T>C (p.Leu275Pro)	C1QBP (L275P)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 33	GPathogenic
Select item 441245	NM_001212.4(C1QBP):c.823C>T (p.Leu275Phe)	C1QBP (L275F)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 33	GPathogenic
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 2796923	NM_001212.4(C1QBP):c.792G>A (p.Glu264=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	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 1926720	NM_001212.4(C1QBP):c.787C>G (p.Leu263Val)	C1QBP (L263V)	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 2723320	NM_001212.4(C1QBP):c.753T>C (p.Thr251=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 441244	NM_001212.4(C1QBP):c.739G>T (p.Gly247Trp)	C1QBP (G247W)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 33	GPathogenic
Select item 1453425	NM_001212.4(C1QBP):c.736C>T (p.Arg246Ter)	C1QBP (R246*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1905569	NM_001212.4(C1QBP):c.732C>T (p.Ala244=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2419154	NM_001212.4(C1QBP):c.717A>G (p.Leu239=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2899087	NM_001212.4(C1QBP):c.700-6T>C	C1QBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 711527	NM_001212.4(C1QBP):c.700-8C>A	C1QBP	Single nucleotide variant (intron variant)	C1QBP-related disorder +1 more	GBenign/Likely benign
Select item 2971730	NM_001212.4(C1QBP):c.700-20G>A	C1QBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220840	NM_001212.4(C1QBP):c.699+19G>T	C1QBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2983225	NM_001212.4(C1QBP):c.699+17G>T	C1QBP	Single nucleotide variant (intron 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 3009624	NM_001212.4(C1QBP):c.678C>T (p.Leu226=)	C1QBP	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 2084171	NM_001212.4(C1QBP):c.643G>A (p.Gly215Ser)	C1QBP (G215S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 441242	NM_001212.4(C1QBP):c.612C>G (p.Phe204Leu)	C1QBP (F204L)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
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 1943812	NM_001212.4(C1QBP):c.592G>A (p.Glu198Lys)	C1QBP (E198K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955360	NM_001212.4(C1QBP):c.591C>T (p.Asp197=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1432743	NM_001212.4(C1QBP):c.588A>C (p.Glu196Asp)	C1QBP (E196D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905520	NM_001212.4(C1QBP):c.577-1G>A	C1QBP	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 1896406	NM_001212.4(C1QBP):c.577-18A>G	C1QBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272045	NM_001212.4(C1QBP):c.577-56C>A	C1QBP	Single nucleotide variant (intron variant)	not provided	GBenign
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 441246	NM_001212.4(C1QBP):c.562_564del (p.Tyr188del)	C1QBP (Y188del)	Deletion (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 441241	NM_001212.4(C1QBP):c.557G>C (p.Cys186Ser)	C1QBP (C186S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1572887	NM_001212.4(C1QBP):c.526G>C (p.Asp176His)	C1QBP (D176H)	Single nucleotide variant (missense variant)	C1QBP-related disorder +1 more	GLikely benign
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 2069671	NM_001212.4(C1QBP):c.518T>A (p.Ile173Lys)	C1QBP (I173K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2131507	NM_001212.4(C1QBP):c.489A>G (p.Thr163=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2093721	NM_001212.4(C1QBP):c.484C>T (p.Leu162=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2439613	NM_001212.4(C1QBP):c.478-7T>G	C1QBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2021460	NM_001212.4(C1QBP):c.478-7del	C1QBP	Deletion (intron variant)	not provided	GUncertain significance
Select item 1287217	NM_001212.4(C1QBP):c.478-50C>G	C1QBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274810	NM_001212.4(C1QBP):c.477+133dup	C1QBP	Duplication (intron variant)	not provided	GBenign
Select item 1287341	NM_001212.4(C1QBP):c.477+99del	C1QBP	Deletion (intron variant)	not provided	GBenign
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 2859087	NM_001212.4(C1QBP):c.450G>A (p.Ser150=)	C1QBP	Single nucleotide variant (synonymous 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 2070505	NM_001212.4(C1QBP):c.445C>T (p.Pro149Ser)	C1QBP (P149S)	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 2123330	NM_001212.4(C1QBP):c.431_433del (p.Asp144del)	C1QBP (D144del)	Deletion (inframe_deletion)	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 2008963	NM_001212.4(C1QBP):c.407ACA[1] (p.Asn137del)	C1QBP (N137del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1921972	NM_001212.4(C1QBP):c.412A>C (p.Ser138Arg)	C1QBP (S138R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895114	NM_001212.4(C1QBP):c.405T>C (p.Ile135=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082480	NM_001212.4(C1QBP):c.401A>G (p.Asn134Ser)	C1QBP (N134S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2716989	NM_001212.4(C1QBP):c.390G>C (p.Thr130=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2191872	NM_001212.4(C1QBP):c.390G>A (p.Thr130=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1556932	NM_001212.4(C1QBP):c.389C>T (p.Thr130Met)	C1QBP (T130M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2896276	NM_001212.4(C1QBP):c.387C>A (p.Ile129=)	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 1694814	NM_001212.4(C1QBP):c.384-7G>A	C1QBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1912608	NM_001212.4(C1QBP):c.384-8C>T	C1QBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610440	NM_001212.4(C1QBP):c.384-8C>G	C1QBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1630248	NM_001212.4(C1QBP):c.384-43GCCTTGTCTGTTTT[3]	C1QBP	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1272460	NM_001212.4(C1QBP):c.384-29_384-16del	C1QBP	Microsatellite (intron variant)	not provided	GBenign
Select item 1920547	NM_001212.4(C1QBP):c.383+19A>G	C1QBP	Single nucleotide variant (intron 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 2804600	NM_001212.4(C1QBP):c.383+7A>G	C1QBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2359092	NM_001212.4(C1QBP):c.376G>A (p.Gly126Arg)	C1QBP (G126R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2768062	NM_001212.4(C1QBP):c.375C>T (p.Ala125=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	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 1910309	NM_001212.4(C1QBP):c.354G>A (p.Ala118=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	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 2008636	NM_001212.4(C1QBP):c.331C>T (p.Leu111=)	C1QBP	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 2000801	NM_001212.4(C1QBP):c.317C>G (p.Ser106Cys)	C1QBP (S106C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937196	NM_001212.4(C1QBP):c.307C>A (p.Pro103Thr)	C1QBP (P103T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057853	NM_001212.4(C1QBP):c.291G>A (p.Gln97=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2026281	NM_001212.4(C1QBP):c.276G>A (p.Glu92=)	C1QBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 2