ClinVar for MedGen (Select 414167) - ClinVar

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Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3578197	NM_172351.3(CD46):c.518A>G (p.His173Arg)	CD46 (H173R)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GLikely pathogenic
Select item 3370412	NM_172351.3(CD46):c.351C>G (p.Tyr117Ter)	CD46 (Y117*)	Single nucleotide variant (nonsense)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GLikely pathogenic
Select item 3236246	NM_172351.3(CD46):c.735del (p.Lys245fs)	CD46 (K245fs)	Deletion (frameshift variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GPathogenic
Select item 3236244	NM_172351.3(CD46):c.126_127del (p.Glu42fs)	CD46 (E42fs)	Deletion (frameshift variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GPathogenic
Select item 3236022	NM_172351.3(CD46):c.548A>G (p.Tyr183Cys)	CD46 (Y183C)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 3235987	NM_172351.3(CD46):c.1083-3C>G	CD46	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 3068272	NM_172351.3(CD46):c.559G>C (p.Val187Leu)	CD46 (V187L)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GLikely pathogenic
Select item 3066170	NM_172351.3(CD46):c.737T>G (p.Phe246Cys)	CD46 (F246C)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 3061864	NM_172351.3(CD46):c.217C>T (p.Pro73Ser)	CD46 (P73S)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 2584519	NM_172351.3(CD46):c.857-1G>A	CD46	Single nucleotide variant (splice acceptor variant +1 more)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GLikely pathogenic
Select item 2577446	NM_172351.3(CD46):c.907del (p.Arg303fs)	CD46 (R288fs +2 more)	Deletion (frameshift variant +1 more)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GPathogenic
Select item 1917135	NM_172351.3(CD46):c.944-1G>C	CD46	Single nucleotide variant (splice acceptor variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +1 more	GConflicting classifications of pathogenicity
Select item 1698741	NM_172351.3(CD46):c.191G>T (p.Cys64Phe)	CD46 (C64F)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +2 more	GUncertain significance
Select item 1601347	NM_172351.3(CD46):c.286+27del	CD46	Deletion (intron variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +1 more	GBenign/Likely benign
Select item 1591086	NM_172351.3(CD46):c.261A>G (p.Leu87=)	CD46	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1343345	NM_172351.3(CD46):c.820_821del (p.Ser274fs)	CD46 (S274fs)	Deletion (frameshift variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +1 more	GPathogenic
Select item 1333461	NM_172351.3(CD46):c.350_351dup (p.Glu118fs)	CD46 (E118fs)	Duplication (frameshift variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GPathogenic
Select item 1185017	NM_172351.3(CD46):c.198A>T (p.Lys66Asn)	CD46 (K66N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1185016	NM_172351.3(CD46):c.72G>A (p.Met24Ile)	CD46, LOC129932405 (M24I)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1162904	NM_172351.3(CD46):c.535G>C (p.Glu179Gln)	CD46 (E179Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1049467	NM_172351.3(CD46):c.643G>A (p.Val215Met)	CD46 (V215M)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +1 more	GUncertain significance
Select item 1029593	NM_172351.3(CD46):c.558_559delinsCC (p.Val187Leu)	CD46 (V187L)	Indel (missense variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 988106	NM_172351.3(CD46):c.565T>G (p.Tyr189Asp)	CD46 (Y189D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 988104	NM_172351.3(CD46):c.476-6_476-5delinsG	CD46	Indel (intron variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 876760	NM_172351.3(CD46):c.*1418T>C	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 876759	NM_172351.3(CD46):c.*1272C>T	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 876758	NM_172351.3(CD46):c.*1265T>C	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 876757	NM_172351.3(CD46):c.*1211C>T	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 876756	NM_172351.3(CD46):c.*1146G>C	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 876705	NM_172351.3(CD46):c.857-185T>C	CD46	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 876704	NM_172351.3(CD46):c.586G>C (p.Gly196Arg)	CD46 (G196R)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 876703	NM_172351.3(CD46):c.453C>T (p.Ser151=)	CD46	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome +2 more	GBenign
Select item 875760	NM_172351.3(CD46):c.*672A>T	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 875759	NM_172351.3(CD46):c.*518A>G	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 875711	NM_172351.3(CD46):c.293C>T (p.Thr98Ile)	CD46 (T98I)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +1 more	GConflicting classifications of pathogenicity
Select item 875710	NM_172351.3(CD46):c.285T>C (p.Tyr95=)	CD46	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 875709	NM_172351.3(CD46):c.245G>A (p.Arg82Gln)	CD46 (R82Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 875708	NM_172351.3(CD46):c.38C>T (p.Ser13Phe)	CD46, LOC129932405 (S13F)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 875707	NM_172351.3(CD46):c.-10C>T	CD46, LOC129932405	Single nucleotide variant (5 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 875706	NM_172351.3(CD46):c.-11C>A	CD46, LOC129932405	Single nucleotide variant (5 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +1 more	GLikely benign
Select item 874828	NM_172351.3(CD46):c.*467T>C	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 874827	NM_172351.3(CD46):c.1104C>T (p.Thr368=)	CD46	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 874826	NM_172351.3(CD46):c.1090C>T (p.Leu364=)	CD46	Single nucleotide variant (intron variant +1 more)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 874783	NM_172351.3(CD46):c.-127A>G	CD46	Single nucleotide variant (5 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 873928	NM_172351.3(CD46):c.*1865G>C	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 873927	NM_172351.3(CD46):c.*1614G>A	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 873926	NM_172351.3(CD46):c.*1613C>T	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 873875	NM_172351.3(CD46):c.1082+13A>T	CD46	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 873874	NM_172351.3(CD46):c.1018+7A>G	CD46	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 873873	NM_172351.3(CD46):c.926C>T (p.Pro309Leu)	CD46 (P309L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 829967	NM_172351.3(CD46):c.101C>T (p.Ala34Val)	CD46 (A34V)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 829903	NM_172351.3(CD46):c.714_715del (p.Gln238fs)	CD46 (Q238fs)	Deletion (frameshift variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GLikely pathogenic
Select item 829863	NM_172351.3(CD46):c.828G>A (p.Trp276Ter)	CD46 (W276*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 791828	NM_172351.3(CD46):c.861G>A (p.Ser287=)	CD46	Single nucleotide variant (synonymous variant +1 more)	Kidney disorder +3 more	GBenign/Likely benign
Select item 791827	NM_172351.3(CD46):c.796G>A (p.Asp266Asn)	CD46 (D266N)	Single nucleotide variant (missense variant)	Kidney disorder +3 more	GConflicting classifications of pathogenicity
Select item 635500	NM_172351.3(CD46):c.404del (p.Gly135fs)	CD46 (G135fs)	Deletion (frameshift variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GPathogenic
Select item 599060	NM_172351.3(CD46):c.604C>T (p.Leu202Phe)	CD46 (L202F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 522216	NM_172351.3(CD46):c.417A>G (p.Leu139=)	CD46	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 505831	NM_172351.3(CD46):c.286+2T>G	CD46	Single nucleotide variant (splice donor variant)	Atypical hemolytic-uremic syndrome +3 more	GPathogenic/Likely pathogenic
Select item 444193	NM_172351.3(CD46):c.1103C>T (p.Thr368Ile)	CD46 (T383I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 438672	NM_172351.3(CD46):c.685C>T (p.Arg229Ter)	CD46 (R229*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 369948	NM_172351.3(CD46):c.542_543del (p.Val180_Phe181insTer)	CD46	Deletion (nonsense)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GPathogenic
Select item 294996	NM_172351.3(CD46):c.*1963C>T	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 294995	NM_172351.3(CD46):c.*1888C>T	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 294994	NM_172351.3(CD46):c.*1875T>G	CD46	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 294993	NM_172351.3(CD46):c.*1665G>A	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 294992	NM_172351.3(CD46):c.*1659A>G	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 294991	NM_172351.3(CD46):c.*1641A>G	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 294990	NM_172351.3(CD46):c.*1498G>T	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GBenign
Select item 294989	NM_172351.3(CD46):c.*1435T>C	CD46	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 294988	NM_172351.3(CD46):c.*1111C>G	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 294987	NM_172351.3(CD46):c.*1099A>G	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 294986	NM_172351.3(CD46):c.*968T>A	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 294985	NM_172351.3(CD46):c.*920A>G	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 294984	NM_172351.3(CD46):c.*918G>A	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GBenign
Select item 294983	NM_172351.3(CD46):c.*897T>C	CD46	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 294982	NM_172351.3(CD46):c.*614T>C	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 294981	NM_172351.3(CD46):c.*517T>A	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 294980	NM_172351.3(CD46):c.*503A>G	CD46	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 294979	NM_172351.3(CD46):c.*180T>C	CD46	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 294978	NM_172351.3(CD46):c.*52G>A	CD46 (G365S +6 more)	Single nucleotide variant (missense variant +1 more)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 294977	NM_172351.3(CD46):c.*31A>G	CD46	Single nucleotide variant (3 prime UTR variant +1 more)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 294976	NM_172351.3(CD46):c.1083-10C>T	CD46	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 294975	NM_172351.3(CD46):c.1013C>T (p.Ala338Val)	CD46 (A353V +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 294974	NM_172351.3(CD46):c.949C>G (p.Pro317Ala)	CD46 (P332A +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 294973	NM_172351.3(CD46):c.901+9A>G	CD46	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 294972	NM_172351.3(CD46):c.887C>T (p.Ala296Val)	CD46 (A311V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 294971	NM_172351.3(CD46):c.860C>T (p.Ser287Leu)	CD46 (S302L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 294970	NM_172351.3(CD46):c.857-124T>A	CD46	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 294969	NM_172351.3(CD46):c.574G>C (p.Asp192His)	CD46 (D192H)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +2 more	GConflicting classifications of pathogenicity
Select item 294968	NM_172351.3(CD46):c.276C>T (p.Asp92=)	CD46	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +1 more	GConflicting classifications of pathogenicity
Select item 294967	NM_172351.3(CD46):c.118A>G (p.Thr40Ala)	CD46 (T40A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 265981	NM_172351.3(CD46):c.776del (p.Gly259fs)	CD46 (G259fs)	Deletion (frameshift variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GPathogenic
Select item 17049	NM_172351.3(CD46):c.104G>A (p.Cys35Tyr)	CD46 (C35Y)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 17048	NM_172351.3(CD46):c.175C>T (p.Arg59Ter)	CD46 (R59*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 17047	NM_172351.3(CD46):c.98-1G>C	CD46	Single nucleotide variant (splice acceptor variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Grisk factor
Select item 17046	NM_172351.3(CD46):c.718T>C (p.Ser240Pro)	CD46 (S240P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 17045	NM_172351.3(CD46):c.811_816del (p.Asp271_Ser272del)	CD46	Deletion (inframe_deletion)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Grisk factor
Select item 17044	NM_172351.3(CD46):c.800_801del (p.Thr267fs)	CD46 (T267fs)	Microsatellite (frameshift variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	Grisk factor

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Items: 99