"Invitae"[submitter] AND "C1QC"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 121

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1544198	NM_172369.5(C1QC):c.6C>T (p.Asp2=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1164154	NM_172369.5(C1QC):c.8T>C (p.Val3Ala)	C1QC (V3A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 775130	NM_172369.5(C1QC):c.19T>A (p.Ser7Thr)	C1QC (S7T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 625896	NM_172369.5(C1QC):c.19_20delinsAA (p.Ser7Asn)	C1QC (S7N)	Indel (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 775131	NM_172369.5(C1QC):c.20C>A (p.Ser7Tyr)	C1QC (S7Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 2789672	NM_172369.5(C1QC):c.30C>T (p.His10=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1639679	NM_172369.5(C1QC):c.43C>T (p.Leu15=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	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 2021967	NM_172369.5(C1QC):c.56TGC[5] (p.Leu22_Pro23insLeu)	C1QC	Microsatellite (inframe_insertion +1 more)	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 1659574	NM_172369.5(C1QC):c.90A>G (p.Thr30=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	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 17071	NM_172369.5(C1QC):c.100G>A (p.Gly34Arg)	C1QC (G34R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1407348	NM_172369.5(C1QC):c.103A>G (p.Ile35Val)	C1QC (I35V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 739840	NM_172369.5(C1QC):c.117C>T (p.Pro39=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1167797	NM_172369.5(C1QC):c.126C>T (p.Pro42=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 1111767	NM_172369.5(C1QC):c.150C>T (p.Tyr50=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1370689	NM_172369.5(C1QC):c.152A>T (p.Asp51Val)	C1QC (D51V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2023126	NM_172369.5(C1QC):c.157C>T (p.Leu53=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 1467138	NM_172369.5(C1QC):c.181+6T>A	C1QC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2990693	NM_172369.5(C1QC):c.181+17G>A	C1QC	Single nucleotide variant (intron 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 1599281	NM_172369.5(C1QC):c.198C>T (p.Pro66=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1052856	NM_172369.5(C1QC):c.199G>A (p.Gly67Arg)	C1QC (G67R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 17070	NM_172369.5(C1QC):c.205C>T (p.Arg69Ter)	C1QC (R69*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 17069	NM_172369.5(C1QC):c.213del (p.Gln74fs)	C1QC (Q74fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1169195	NM_172369.5(C1QC):c.213C>G (p.Pro71=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 2780516	NM_172369.5(C1QC):c.225G>A (p.Lys75=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1062279	NM_172369.5(C1QC):c.230A>G (p.Glu77Gly)	C1QC (E77G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1398817	NM_172369.5(C1QC):c.232C>T (p.Pro78Ser)	C1QC (P78S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2831672	NM_172369.5(C1QC):c.249T>C (p.His83=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	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 1670361	NM_172369.5(C1QC):c.255G>C (p.Gly85=)	C1QC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1404045	NM_172369.5(C1QC):c.271G>T (p.Gly91Ter)	C1QC (G2* +1 more)	Single nucleotide variant (nonsense)	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 1419215	NM_172369.5(C1QC):c.274C>A (p.Pro92Thr)	C1QC (P3T +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 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 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 2072752	NM_172369.5(C1QC):c.312C>T (p.Ile104=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1352674	NM_172369.5(C1QC):c.319G>A (p.Glu107Lys)	C1QC (E18K +1 more)	Single nucleotide variant (missense variant)	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 1566961	NM_172369.5(C1QC):c.333G>A (p.Glu111=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954282	NM_172369.5(C1QC):c.336C>A (p.Gly112=)	C1QC	Single nucleotide variant (synonymous variant)	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 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 1927919	NM_172369.5(C1QC):c.366C>T (p.Phe122=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3021606	NM_172369.5(C1QC):c.369G>A (p.Thr123=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1154940	NM_172369.5(C1QC):c.372C>T (p.Val124=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1954821	NM_172369.5(C1QC):c.384C>T (p.Thr128=)	C1QC	Single nucleotide variant (synonymous variant)	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 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 2977338	NM_172369.5(C1QC):c.423C>T (p.Asn141=)	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	GUncertain significance
Select item 1419299	NM_172369.5(C1QC):c.425C>A (p.Ala142Glu)	C1QC (A53E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1587875	NM_172369.5(C1QC):c.426G>A (p.Ala142=)	C1QC	Single nucleotide variant (synonymous variant)	C1QC-related condition +1 more	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 1588303	NM_172369.5(C1QC):c.441G>A (p.Pro147=)	C1QC	Single nucleotide variant (synonymous variant)	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 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 2045107	NM_172369.5(C1QC):c.459G>A (p.Thr153=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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
Select item 1566838	NM_172369.5(C1QC):c.477C>A (p.Thr159=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	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 440743	NM_172369.5(C1QC):c.490G>A (p.Gly164Ser)	C1QC (G164S +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 1348690	NM_172369.5(C1QC):c.515C>T (p.Ala172Val)	C1QC (A172V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1632897	NM_172369.5(C1QC):c.516G>C (p.Ala172=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1541132	NM_172369.5(C1QC):c.516G>A (p.Ala172=)	C1QC	Single nucleotide variant (synonymous variant)	C1QC-related condition +1 more	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 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 1609197	NM_172369.5(C1QC):c.537C>T (p.Cys179=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1030316	NM_172369.5(C1QC):c.538G>A (p.Val180Met)	C1QC (V180M +1 more)	Single nucleotide variant (missense variant)	C1Q deficiency +2 more	GUncertain significance
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 1351790	NM_172369.5(C1QC):c.551G>A (p.Arg184His)	C1QC (R95H +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 2892440	NM_172369.5(C1QC):c.555C>T (p.Ser185=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1356198	NM_172369.5(C1QC):c.556G>A (p.Gly186Ser)	C1QC (G186S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1553991	NM_172369.5(C1QC):c.558C>T (p.Gly186=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714637	NM_172369.5(C1QC):c.559G>A (p.Val187Ile)	C1QC (V98I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1664264	NM_172369.5(C1QC):c.561C>T (p.Val187=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1386121	NM_172369.5(C1QC):c.563A>T (p.Lys188Ile)	C1QC (K188I +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 2730474	NM_172369.5(C1QC):c.582C>A (p.Gly194=)	C1QC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 2