ClinVar for Gene (Select 716) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336211	NM_001734.5(C1S):c.343del (p.Ser115fs)	C1S (S115fs)	Deletion (5 prime UTR variant +1 more)	Complement component C1s deficiency	GPathogenic
Select item 3262431	NM_001734.5(C1S):c.1347C>G (p.Phe449Leu)	C1S (F449L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262430	NM_001734.5(C1S):c.544G>T (p.Ala182Ser)	C1S (A182S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251163	NM_001734.5(C1S):c.1082T>A (p.Ile361Asn)	C1S (I194N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244256	NC_000012.11:g.(?_7053285)_(9027607_?)del	A2ML1, ACSM4 +35 more	Deletion	Peroxisome biogenesis disorder 2B +1 more	GPathogenic
Select item 3239295	NM_001734.5(C1S):c.2057G>T (p.Arg686Leu)	C1S (R519L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3135832	NM_001734.5(C1S):c.878C>G (p.Pro293Arg)	C1S (P126R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135831	NM_001734.5(C1S):c.47A>T (p.Glu16Val)	C1S (E16V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3135829	NM_001734.5(C1S):c.1351T>G (p.Trp451Gly)	C1S (W284G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3040048	NM_001734.5(C1S):c.1043G>A (p.Ser348Asn)	C1S (S181N +1 more)	Single nucleotide variant (missense variant)	C1S-related disorder	GUncertain significance
Select item 3031661	NM_001734.5(C1S):c.1194_1195dup (p.Gly399fs)	C1S (G232fs +1 more)	Duplication (frameshift variant)	C1S-related disorder	GLikely pathogenic
Select item 3030298	NM_001734.5(C1S):c.1992C>G (p.Leu664=)	C1S	Single nucleotide variant (synonymous variant)	C1S-related disorder	GLikely benign
Select item 3019138	NM_001734.5(C1S):c.1327G>A (p.Asp443Asn)	C1S (D276N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015435	NM_001734.5(C1S):c.214-4T>G	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015351	NM_001734.5(C1S):c.810C>A (p.Ile270=)	C1S	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3013467	NM_001734.5(C1S):c.470C>T (p.Ser157Phe)	C1S (S157F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3010922	NM_001734.5(C1S):c.709A>G (p.Ser237Gly)	C1S (S70G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010837	NM_001734.5(C1S):c.589C>G (p.Pro197Ala)	C1S (P30A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010543	NM_001734.5(C1S):c.392-4G>A	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010216	NM_001734.5(C1S):c.1543A>G (p.Lys515Glu)	C1S (K348E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010077	NM_001734.5(C1S):c.1535C>T (p.Pro512Leu)	C1S (P345L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007760	NM_001734.5(C1S):c.717+19A>G	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006662	NM_001734.5(C1S):c.2013T>C (p.Tyr671=)	C1S	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006482	NM_001734.5(C1S):c.391+11C>T	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006258	NM_001734.5(C1S):c.1721A>G (p.Glu574Gly)	C1S (E407G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005740	NM_001734.5(C1S):c.1438A>G (p.Asn480Asp)	C1S (N480D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003284	NM_001734.5(C1S):c.176T>C (p.Ile59Thr)	C1S (I59T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3003000	NM_001734.5(C1S):c.1271-18T>G	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002919	NM_001734.5(C1S):c.834G>A (p.Gly278=)	C1S	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3001087	NM_001734.5(C1S):c.468C>T (p.Cys156=)	C1S	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3000803	NM_001734.5(C1S):c.683C>T (p.Ala228Val)	C1S (A61V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997419	NM_001734.5(C1S):c.1066+19T>C	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994297	NM_001734.5(C1S):c.1574A>G (p.Asn525Ser)	C1S (N358S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994205	NM_001734.5(C1S):c.1037A>G (p.Lys346Arg)	C1S (K179R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993304	NM_001734.5(C1S):c.1829A>T (p.Tyr610Phe)	C1S (Y610F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992599	NM_001734.5(C1S):c.518-17C>T	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991005	NM_001734.5(C1S):c.540C>G (p.Phe180Leu)	C1S (F180L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990102	NM_001734.5(C1S):c.213+1G>A	C1S	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 2985262	NM_001734.5(C1S):c.871C>T (p.Pro291Ser)	C1S (P291S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985075	NM_001734.5(C1S):c.1375T>C (p.Trp459Arg)	C1S (W292R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984270	NM_001734.5(C1S):c.546A>G (p.Ala182=)	C1S	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983925	NM_001734.5(C1S):c.1236G>A (p.Glu412=)	C1S	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980775	NM_001734.5(C1S):c.988-10T>C	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979692	NM_001734.5(C1S):c.735G>A (p.Arg245=)	C1S	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979532	NM_001734.5(C1S):c.1510A>G (p.Thr504Ala)	C1S (T337A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978993	NM_001734.5(C1S):c.1666G>A (p.Asp556Asn)	C1S (D389N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977737	NM_001734.5(C1S):c.1976G>A (p.Cys659Tyr)	C1S (C492Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977664	NM_001734.5(C1S):c.363G>A (p.Thr121=)	C1S	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2977442	NM_001734.5(C1S):c.54C>G (p.Thr18=)	C1S	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2976593	NM_001734.5(C1S):c.25C>T (p.Leu9Phe)	C1S (L9F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2974939	NM_001734.5(C1S):c.1271-13T>C	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974098	NM_001734.5(C1S):c.492C>T (p.Leu164=)	C1S	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2973887	NM_001734.5(C1S):c.1797A>G (p.Lys599=)	C1S	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971474	NM_001734.5(C1S):c.1066+19T>A	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970448	NM_001734.5(C1S):c.6-10_6-9del	C1S	Deletion (intron variant)	not provided	GLikely benign
Select item 2969640	NM_001734.5(C1S):c.80A>G (p.Asn27Ser)	C1S (N27S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2968780	NM_001734.5(C1S):c.989G>A (p.Gly330Glu)	C1S (G330E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965298	NM_001734.5(C1S):c.1487G>A (p.Arg496Gln)	C1S (R496Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964988	NM_001734.5(C1S):c.1270+7A>G	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963387	NM_001734.5(C1S):c.1514C>T (p.Pro505Leu)	C1S (P338L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963365	NM_001734.5(C1S):c.1033G>A (p.Gly345Arg)	C1S (G178R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962399	NM_001734.5(C1S):c.633G>A (p.Gly211=)	C1S	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957052	NM_001734.5(C1S):c.1066C>T (p.Pro356Ser)	C1S (P189S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955795	NM_001734.5(C1S):c.214-7_214-3del	C1S	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2920214	NM_001734.5(C1S):c.5+5G>A	C1S	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2916990	NM_001734.5(C1S):c.1743C>T (p.Arg581=)	C1S	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898810	NM_001734.5(C1S):c.355C>T (p.Arg119Cys)	C1S (R119C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2896928	NM_001734.5(C1S):c.1632C>T (p.Thr544=)	C1S	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896034	NM_001734.5(C1S):c.1198G>A (p.Glu400Lys)	C1S (E400K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895205	NM_001734.5(C1S):c.88C>G (p.Gln30Glu)	C1S (Q30E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2890766	NM_001734.5(C1S):c.1761A>T (p.Leu587Phe)	C1S (L420F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886211	NM_001734.5(C1S):c.1238T>G (p.Val413Gly)	C1S (V246G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880803	NM_001734.5(C1S):c.717+6T>A	C1S	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2877557	NM_001734.5(C1S):c.871+9C>T	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876992	NM_001734.5(C1S):c.987+5A>G	C1S	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2876222	NM_001734.5(C1S):c.1564G>A (p.Gly522Arg)	C1S (G355R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875552	NM_001734.5(C1S):c.1029C>T (p.Ser343=)	C1S	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873701	NM_001734.5(C1S):c.1945G>A (p.Ala649Thr)	C1S (A649T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871740	NM_001734.5(C1S):c.872-4C>A	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871619	NM_001734.5(C1S):c.1452A>G (p.Thr484=)	C1S	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869433	NM_001734.5(C1S):c.5+8A>G	C1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868243	NM_001734.5(C1S):c.530G>A (p.Gly177Glu)	C1S (G177E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863263	NM_001734.5(C1S):c.211_212del (p.Gln71fs)	C1S (Q71fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2862918	NM_001734.5(C1S):c.794G>A (p.Ser265Asn)	C1S (S98N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861770	NM_001734.5(C1S):c.451A>C (p.Ile151Leu)	C1S (I151L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2860923	NM_001734.5(C1S):c.1424A>G (p.His475Arg)	C1S (H475R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857893	NM_001734.5(C1S):c.1029_1038del (p.Asn344fs)	C1S (N344fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2853479	NM_001734.5(C1S):c.1623G>A (p.Met541Ile)	C1S (M374I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842943	NM_001734.5(C1S):c.385G>T (p.Ala129Ser)	C1S (A129S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2838992	NM_001734.5(C1S):c.952C>T (p.Gln318Ter)	C1S (Q151* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2837217	NM_001734.5(C1S):c.1427T>C (p.Val476Ala)	C1S (V309A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2836855	NM_001734.5(C1S):c.370G>A (p.Ala124Thr)	C1S (A124T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2831902	NM_001734.5(C1S):c.37G>T (p.Val13Phe)	C1S (V13F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2828953	NM_001734.5(C1S):c.76C>T (p.Pro26Ser)	C1S (P26S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2828560	NM_001734.5(C1S):c.1934C>A (p.Thr645Asn)	C1S (T645N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2826810	NM_001734.5(C1S):c.462C>T (p.Tyr154=)	C1S	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2826807	NM_001734.5(C1S):c.1347C>A (p.Phe449Leu)	C1S (F282L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2823846	NM_001734.5(C1S):c.1956G>C (p.Leu652=)	C1S	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821078	NM_001734.5(C1S):c.1362C>T (p.Phe454=)	C1S	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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