C1QB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149011	GRCh38/hg38 1p36.12(chr1:21399130-22696747)x1	ALPL, C1QA +60 more	Copy number loss	See cases	GUncertain significance
Select item 1283735	NM_001378156.1(C1QB):c.-23-147GATG[10]	C1QB	Microsatellite (intron variant)	not provided	GBenign
Select item 1269706	NM_001378156.1(C1QB):c.-23-147GATG[11]	C1QB	Microsatellite (intron variant)	not provided	GBenign
Select item 1252299	NM_001378156.1(C1QB):c.-23-147GATG[8]	C1QB	Microsatellite (intron variant)	not provided	GBenign
Select item 1047852	NM_001378156.1(C1QB):c.-3A>T	C1QB (M2L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1716735	NM_001378156.1(C1QB):c.13T>G (p.Trp5Gly)	C1QB (W5G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1493957	NM_001378156.1(C1QB):c.25C>T (p.Pro9Ser)	C1QB (P9S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1580207	NM_001378156.1(C1QB):c.37T>C (p.Leu13=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3135711	NM_001378156.1(C1QB):c.40C>T (p.Leu14Phe)	C1QB (L14F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1934332	NM_001378156.1(C1QB):c.51G>A (p.Leu17=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1591793	NM_001378156.1(C1QB):c.60C>T (p.Ile20=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 775523	NM_001378156.1(C1QB):c.60C>A (p.Ile20=)	C1QB	Single nucleotide variant (synonymous variant)	C1QB-related disorder +1 more	GBenign
Select item 1020369	NM_001378156.1(C1QB):c.61G>A (p.Asp21Asn)	C1QB (D21N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2714900	NM_001378156.1(C1QB):c.77A>G (p.Gln26Arg)	C1QB (Q28R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2048113	NM_001378156.1(C1QB):c.78G>C (p.Gln26His)	C1QB (Q26H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1641570	NM_001378156.1(C1QB):c.90C>T (p.Thr30=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1443928	NM_001378156.1(C1QB):c.91G>A (p.Gly31Arg)	C1QB (G33R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1660476	NM_001378156.1(C1QB):c.96C>G (p.Pro32=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725822	NM_001378156.1(C1QB):c.102C>G (p.Ala34=)	C1QB	Single nucleotide variant (synonymous variant)	C1QB-related disorder +1 more	GBenign
Select item 1354973	NM_001378156.1(C1QB):c.116C>T (p.Pro39Leu)	C1QB (P41L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1625014	NM_001378156.1(C1QB):c.117G>A (p.Pro39=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1483546	NM_001378156.1(C1QB):c.129dup (p.Thr44fs)	C1QB (T44fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2979599	NM_001378156.1(C1QB):c.135T>A (p.Pro45=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986637	NM_001378156.1(C1QB):c.141C>T (p.Pro47=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1404642	NM_001378156.1(C1QB):c.142G>A (p.Asp48Asn)	C1QB (D48N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1164333	NM_001378156.1(C1QB):c.156G>A (p.Gly52=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1348633	NM_001378156.1(C1QB):c.164G>C (p.Gly55Ala)	C1QB (G55A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 440741	NM_001378156.1(C1QB):c.181+1G>T	C1QB	Single nucleotide variant (splice donor variant)	C1Q deficiency 2	GPathogenic
Select item 2096930	NM_001378156.1(C1QB):c.181+10G>C	C1QB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906774	NM_001378156.1(C1QB):c.181+12T>A	C1QB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288576	NM_001378156.1(C1QB):c.181+267T>C	C1QB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286619	NM_001378156.1(C1QB):c.182-235T>C	C1QB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1370663	NM_001378156.1(C1QB):c.193C>T (p.Leu65=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1648868	NM_001378156.1(C1QB):c.207T>C (p.His69=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096931	NM_001378156.1(C1QB):c.208G>A (p.Gly70Ser)	C1QB (G72S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721987	NM_001378156.1(C1QB):c.216C>T (p.Phe72=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 626067	NM_001378156.1(C1QB):c.217G>A (p.Gly73Arg)	C1QB (G75R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1617449	NM_001378156.1(C1QB):c.228A>G (p.Gly76=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1334963	NM_001378156.1(C1QB):c.235G>A (p.Gly79Arg)	C1QB (G79R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184364	NM_001378156.1(C1QB):c.242C>T (p.Pro81Leu)	C1QB (P81L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1598046	NM_001378156.1(C1QB):c.267C>G (p.Pro89=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722530	NM_001378156.1(C1QB):c.311C>T (p.Ala104Val)	C1QB (A106V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1662252	NM_001378156.1(C1QB):c.318C>A (p.Gly106=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1652421	NM_001378156.1(C1QB):c.318C>T (p.Gly106=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1947425	NM_001378156.1(C1QB):c.320C>T (p.Pro107Leu)	C1QB (P107L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2491412	NM_001378156.1(C1QB):c.323A>G (p.Lys108Arg)	C1QB (K108R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 714638	NM_001378156.1(C1QB):c.327T>C (p.Gly109=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1036020	NM_001378156.1(C1QB):c.332C>T (p.Ser111Leu)	C1QB (S111L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1661671	NM_001378156.1(C1QB):c.333G>A (p.Ser111=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1389285	NM_001378156.1(C1QB):c.337G>T (p.Asp113Tyr)	C1QB (D113Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2231190	NM_001378156.1(C1QB):c.358A>G (p.Ile120Val)	C1QB (I122V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1615812	NM_001378156.1(C1QB):c.360C>T (p.Ile120=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068588	NM_001378156.1(C1QB):c.361G>A (p.Ala121Thr)	C1QB (A121T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2249605	NM_001378156.1(C1QB):c.371C>A (p.Ala124Asp)	C1QB (A126D +1 more)	Single nucleotide variant (missense variant)	C1Q deficiency +1 more	GUncertain significance
Select item 2637018	NM_001378156.1(C1QB):c.376A>G (p.Arg126Gly)	C1QB (R126G +1 more)	Single nucleotide variant (missense variant)	C1QB-related disorder	GUncertain significance
Select item 1951924	NM_001378156.1(C1QB):c.384C>T (p.Ile128=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1560343	NM_001378156.1(C1QB):c.387C>T (p.Asn129=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2150388	NM_001378156.1(C1QB):c.388G>A (p.Val130Ile)	C1QB (V130I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 424891	NM_001378156.1(C1QB):c.394del (p.Leu132fs)	C1QB (L134fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2337023	NM_001378156.1(C1QB):c.398G>A (p.Arg133His)	C1QB (R133H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1362954	NM_001378156.1(C1QB):c.400C>T (p.Arg134Trp)	C1QB (R134W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1430245	NM_001378156.1(C1QB):c.401G>A (p.Arg134Gln)	C1QB (R134Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3135710	NM_001378156.1(C1QB):c.416G>A (p.Arg139His)	C1QB (R139H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277520	NM_001378156.1(C1QB):c.424C>T (p.His142Tyr)	C1QB (H144Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1284964	NM_001378156.1(C1QB):c.426C>T (p.His142=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1435489	NM_001378156.1(C1QB):c.427G>A (p.Val143Met)	C1QB (V143M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934298	NM_001378156.1(C1QB):c.439A>T (p.Met147Leu)	C1QB (M147L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1351830	NM_001378156.1(C1QB):c.457C>A (p.Pro153Thr)	C1QB (P153T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348179	NM_001378156.1(C1QB):c.460C>T (p.Arg154Cys)	C1QB (R154C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860560	NM_001378156.1(C1QB):c.480C>T (p.Cys160=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 753564	NM_001378156.1(C1QB):c.489C>T (p.Pro163=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2073868	NM_001378156.1(C1QB):c.513C>T (p.His171=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1423812	NM_001378156.1(C1QB):c.515C>T (p.Ala172Val)	C1QB (A172V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 17072	NM_001378156.1(C1QB):c.523C>T (p.Arg175Ter)	C1QB (R175* +1 more)	Single nucleotide variant (nonsense)	C1Q deficiency 2	GPathogenic
Select item 2988130	NM_001378156.1(C1QB):c.526G>A (p.Gly176Arg)	C1QB (G176R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909855	NM_001378156.1(C1QB):c.537C>T (p.Cys179=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783927	NM_001378156.1(C1QB):c.538G>A (p.Val180Met)	C1QB (V182M +1 more)	Single nucleotide variant (missense variant)	C1QB-related disorder +1 more	GBenign
Select item 522248	NM_001378156.1(C1QB):c.543C>T (p.Asn181=)	C1QB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1421417	NM_001378156.1(C1QB):c.551G>A (p.Arg184His)	C1QB (R184H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421567	NM_001378156.1(C1QB):c.556C>T (p.Arg186Trp)	C1QB (R186W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3135712	NM_001378156.1(C1QB):c.563G>A (p.Arg188His)	C1QB (R188H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1558122	NM_001378156.1(C1QB):c.573G>A (p.Lys191=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799514	NM_001378156.1(C1QB):c.597C>T (p.Ala199=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1093034	NM_001378156.1(C1QB):c.601A>T (p.Asn201Tyr)	C1QB (N201Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2124314	NM_001378156.1(C1QB):c.605C>T (p.Thr202Ile)	C1QB (T202I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178956	NM_001378156.1(C1QB):c.606C>T (p.Thr202=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 916509	NM_001378156.1(C1QB):c.621C>T (p.Thr207=)	C1QB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2431801	NM_001378156.1(C1QB):c.623G>A (p.Gly208Asp)	C1QB (G208D +1 more)	Single nucleotide variant (missense variant)	C1Q deficiency 2	GUncertain significance
Select item 2794502	NM_001378156.1(C1QB):c.645G>A (p.Glu215=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1169553	NM_001378156.1(C1QB):c.657C>T (p.Asn219=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2672329	NM_001378156.1(C1QB):c.664C>T (p.Leu222=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1637991	NM_001378156.1(C1QB):c.675C>T (p.Thr225=)	C1QB	Single nucleotide variant (synonymous variant)	C1QB-related disorder +1 more	GLikely benign
Select item 1366209	NM_001378156.1(C1QB):c.676G>A (p.Asp226Asn)	C1QB (D228N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1424314	NM_001378156.1(C1QB):c.678C>A (p.Asp226Glu)	C1QB (D226E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904891	NM_001378156.1(C1QB):c.691C>T (p.Leu231=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1975204	NM_001378156.1(C1QB):c.702G>A (p.Glu234=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1167933	NM_001378156.1(C1QB):c.723C>T (p.Ser241=)	C1QB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 440742	NM_001378156.1(C1QB):c.724G>A (p.Gly242Arg)	C1QB (G244R +1 more)	Single nucleotide variant (missense variant)	C1Q deficiency	GPathogenic
Select item 1470006	NM_001378156.1(C1QB):c.725G>C (p.Gly242Ala)	C1QB (G242A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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