ClinVar for Gene (Select 714) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3135716	NM_172369.5(C1QC):c.604G>C (p.Val202Leu)	C1QC (V202L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135715	NM_172369.5(C1QC):c.587C>G (p.Thr196Arg)	C1QC (T107R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135714	NM_172369.5(C1QC):c.476C>A (p.Thr159Asn)	C1QC (T159N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3021606	NM_172369.5(C1QC):c.369G>A (p.Thr123=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019439	NM_172369.5(C1QC):c.714C>T (p.Ser238=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019032	NM_172369.5(C1QC):c.252T>C (p.Pro84=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990693	NM_172369.5(C1QC):c.181+17G>A	C1QC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977338	NM_172369.5(C1QC):c.423C>T (p.Asn141=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958045	NM_172369.5(C1QC):c.4G>T (p.Asp2Tyr)	C1QC (D2Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2904907	NM_172369.5(C1QC):c.612G>A (p.Ser204=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892440	NM_172369.5(C1QC):c.555C>T (p.Ser185=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885017	NM_172369.5(C1QC):c.690C>T (p.Ile230=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864115	NM_172369.5(C1QC):c.711C>T (p.Phe237=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861475	NM_172369.5(C1QC):c.364T>C (p.Phe122Leu)	C1QC (F33L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838488	NM_172369.5(C1QC):c.273A>G (p.Gly91=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831672	NM_172369.5(C1QC):c.249T>C (p.His83=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2789672	NM_172369.5(C1QC):c.30C>T (p.His10=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2780516	NM_172369.5(C1QC):c.225G>A (p.Lys75=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2730474	NM_172369.5(C1QC):c.582C>A (p.Gly194=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725031	NM_172369.5(C1QC):c.528C>A (p.Ala176=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697450	NM_172369.5(C1QC):c.181+20T>C	C1QC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638469	NM_172369.5(C1QC):c.548A>G (p.Tyr183Cys)	C1QC (Y183C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2607346	NM_172369.5(C1QC):c.545T>C (p.Leu182Pro)	C1QC (L93P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584937	NM_172369.5(C1QC):c.644AGG[1] (p.Glu216del)	C1QC (E216del +1 more)	Microsatellite (inframe_deletion)	C1Q deficiency	GUncertain significance
Select item 2501741	NM_172369.5(C1QC):c.19delinsAA (p.Ser7fs)	C1QC (S7fs)	Indel (frameshift variant +1 more)	C1Q deficiency	GUncertain significance
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	AKR7A2, AKR7A3 +49 more	Duplication	Congenital disorder of glycosylation type Ir +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 2295375	NM_172369.5(C1QC):c.572C>T (p.Thr191Ile)	C1QC (T191I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290144	NM_172369.5(C1QC):c.458C>T (p.Thr153Met)	C1QC (T153M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2288020	NM_172369.5(C1QC):c.438C>A (p.Asn146Lys)	C1QC (N146K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208838	NM_172369.5(C1QC):c.391C>G (p.Pro131Ala)	C1QC (P131A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201674	NM_172369.5(C1QC):c.507C>T (p.Val169=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2197488	NM_172369.5(C1QC):c.424G>A (p.Ala142Thr)	C1QC (A142T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2170284	NM_172369.5(C1QC):c.642C>T (p.Gly214=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124756	NM_172369.5(C1QC):c.310A>G (p.Ile104Val)	C1QC (I104V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103901	NM_172369.5(C1QC):c.60G>C (p.Leu20=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2092558	NM_172369.5(C1QC):c.164G>A (p.Gly55Glu)	C1QC (G55E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2076241	NM_172369.5(C1QC):c.637G>A (p.Val213Met)	C1QC (V124M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072752	NM_172369.5(C1QC):c.312C>T (p.Ile104=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055404	NM_172369.5(C1QC):c.215A>C (p.Lys72Thr)	C1QC (K72T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2051747	NM_172369.5(C1QC):c.42G>A (p.Lys14=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2045107	NM_172369.5(C1QC):c.459G>A (p.Thr153=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2039154	NM_172369.5(C1QC):c.645G>T (p.Glu215Asp)	C1QC (E126D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023126	NM_172369.5(C1QC):c.157C>T (p.Leu53=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2022029	NM_172369.5(C1QC):c.513C>G (p.His171Gln)	C1QC (H171Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2021967	NM_172369.5(C1QC):c.56TGC[5] (p.Leu22_Pro23insLeu)	C1QC	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2011485	NM_172369.5(C1QC):c.412A>T (p.Ile138Phe)	C1QC (I49F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003367	NM_172369.5(C1QC):c.552C>T (p.Arg184=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1988481	NM_172369.5(C1QC):c.169A>C (p.Lys57Gln)	C1QC (K57Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1972633	NM_172369.5(C1QC):c.321G>T (p.Glu107Asp)	C1QC (E107D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1957899	NM_172369.5(C1QC):c.683T>C (p.Val228Ala)	C1QC (V139A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1954821	NM_172369.5(C1QC):c.384C>T (p.Thr128=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1954282	NM_172369.5(C1QC):c.336C>A (p.Gly112=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943253	NM_172369.5(C1QC):c.14C>G (p.Pro5Arg)	C1QC (P5R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1931273	NM_172369.5(C1QC):c.392C>G (p.Pro131Arg)	C1QC (P131R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927919	NM_172369.5(C1QC):c.366C>T (p.Phe122=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922432	NM_172369.5(C1QC):c.293T>G (p.Val98Gly)	C1QC (V98G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922431	NM_172369.5(C1QC):c.288A>G (p.Pro96=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919463	NM_172369.5(C1QC):c.726C>T (p.Leu242=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918596	NM_172369.5(C1QC):c.147G>T (p.Gly49=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1909985	NM_172369.5(C1QC):c.550C>T (p.Arg184Cys)	C1QC (R184C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909182	NM_172369.5(C1QC):c.23T>C (p.Leu8Pro)	C1QC (L8P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1675123	NM_172369.5(C1QC):c.706G>A (p.Val236Ile)	C1QC (V147I +1 more)	Single nucleotide variant (missense variant)	C1Q deficiency	GUncertain significance
Select item 1670361	NM_172369.5(C1QC):c.255G>C (p.Gly85=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1664622	NM_172369.5(C1QC):c.615C>T (p.Gly205=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1664264	NM_172369.5(C1QC):c.561C>T (p.Val187=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1661221	NM_172369.5(C1QC):c.153C>T (p.Asp51=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1661129	NM_172369.5(C1QC):c.588G>A (p.Thr196=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1659574	NM_172369.5(C1QC):c.90A>G (p.Thr30=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1657067	NM_172369.5(C1QC):c.342C>T (p.Tyr114=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1639679	NM_172369.5(C1QC):c.43C>T (p.Leu15=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1639621	NM_172369.5(C1QC):c.630G>A (p.Arg210=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1632897	NM_172369.5(C1QC):c.516G>C (p.Ala172=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1629593	NM_172369.5(C1QC):c.234C>T (p.Pro78=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1624118	NM_172369.5(C1QC):c.615C>A (p.Gly205=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1609197	NM_172369.5(C1QC):c.537C>T (p.Cys179=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1608762	NM_172369.5(C1QC):c.99C>T (p.Tyr33=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1599281	NM_172369.5(C1QC):c.198C>T (p.Pro66=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1588303	NM_172369.5(C1QC):c.441G>A (p.Pro147=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1587875	NM_172369.5(C1QC):c.426G>A (p.Ala142=)	C1QC	Single nucleotide variant (synonymous variant)	C1QC-related disorder +1 more	GLikely benign
Select item 1570417	NM_172369.5(C1QC):c.489C>T (p.Pro163=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1567222	NM_172369.5(C1QC):c.429C>T (p.Val143=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1566961	NM_172369.5(C1QC):c.333G>A (p.Glu111=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1566838	NM_172369.5(C1QC):c.477C>A (p.Thr159=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1553991	NM_172369.5(C1QC):c.558C>T (p.Gly186=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1544198	NM_172369.5(C1QC):c.6C>T (p.Asp2=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1541132	NM_172369.5(C1QC):c.516G>A (p.Ala172=)	C1QC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1536909	NM_172369.5(C1QC):c.582C>T (p.Gly194=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1532302	NM_172369.5(C1QC):c.48G>A (p.Leu16=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1525306	NM_172369.5(C1QC):c.445G>A (p.Gly149Arg)	C1QC (G149R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1518439	NM_172369.5(C1QC):c.376C>T (p.Arg126Trp)	C1QC (R126W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507644	NM_172369.5(C1QC):c.580G>A (p.Gly194Ser)	C1QC (G105S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505383	NM_172369.5(C1QC):c.162G>A (p.Pro54=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1500408	NM_172369.5(C1QC):c.4G>A (p.Asp2Asn)	C1QC (D2N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1487241	NM_172369.5(C1QC):c.211C>T (p.Pro71Ser)	C1QC (P71S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1485884	NM_172369.5(C1QC):c.368C>T (p.Thr123Met)	C1QC (T123M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1485452	NM_172369.5(C1QC):c.531C>A (p.Asn177Lys)	C1QC (N177K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473122	NM_172369.5(C1QC):c.460A>G (p.Ser154Gly)	C1QC (S154G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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