ClinVar for MedGen (Select 501210) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340493	NM_020184.4(CNNM4):c.1423G>A (p.Val475Met)	CNNM4 (V475M)	Single nucleotide variant (missense variant)	Jalili syndrome	GLikely pathogenic
Select item 3065365	NM_020184.4(CNNM4):c.944C>T (p.Pro315Leu)	CNNM4 (P315L)	Single nucleotide variant (missense variant)	Jalili syndrome	GUncertain significance
Select item 2580955	NM_020184.4(CNNM4):c.1034T>A (p.Leu345Ter)	CNNM4 (L345*)	Single nucleotide variant (nonsense)	Jalili syndrome	GPathogenic
Select item 1712331	NM_020184.4(CNNM4):c.694_722del (p.Ile232fs)	CNNM4 (I232fs)	Deletion (frameshift variant)	Jalili syndrome	GLikely pathogenic
Select item 1342702	NM_020184.4(CNNM4):c.1475G>A (p.Gly492Asp)	CNNM4 (G492D)	Single nucleotide variant (missense variant)	Jalili syndrome	GPathogenic
Select item 1333240	NM_020184.4(CNNM4):c.636_637insATGCTGGACCCCATG (p.Met212_Glu213insMetLeuAspProMet)	CNNM4	Insertion (inframe_insertion)	Jalili syndrome	GUncertain significance
Select item 1297152	NM_020184.4(CNNM4):c.731G>T (p.Cys244Phe)	CNNM4 (C244F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 899279	NM_020184.4(CNNM4):c.*1924G>T	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 899278	NM_020184.4(CNNM4):c.*1836C>T	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 899229	NM_020184.4(CNNM4):c.2171G>A (p.Arg724His)	CNNM4 (R724H)	Single nucleotide variant (missense variant)	Jalili syndrome +2 more	GUncertain significance
Select item 899228	NM_020184.4(CNNM4):c.1956C>T (p.Ser652=)	CNNM4	Single nucleotide variant (synonymous variant)	Jalili syndrome +1 more	GConflicting classifications of pathogenicity
Select item 899227	NM_020184.4(CNNM4):c.1951C>T (p.Arg651Cys)	CNNM4 (R651C)	Single nucleotide variant (missense variant)	Jalili syndrome +1 more	GUncertain significance
Select item 899169	NM_020184.4(CNNM4):c.411G>A (p.Lys137=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 899168	NM_020184.4(CNNM4):c.283G>C (p.Glu95Gln)	CNNM4 (E95Q)	Single nucleotide variant (missense variant)	Jalili syndrome	GUncertain significance
Select item 898178	NM_020184.4(CNNM4):c.*1430G>A	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 898177	NM_020184.4(CNNM4):c.*1126G>A	CNNM4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 898176	NM_020184.4(CNNM4):c.*1059T>C	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 898116	NM_020184.4(CNNM4):c.1902C>T (p.Gly634=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 898115	NM_020184.4(CNNM4):c.1821G>A (p.Lys607=)	CNNM4	Single nucleotide variant (synonymous variant)	Jalili syndrome +1 more	GConflicting classifications of pathogenicity
Select item 898114	NM_020184.4(CNNM4):c.1792G>A (p.Ala598Thr)	CNNM4 (A598T)	Single nucleotide variant (missense variant)	Jalili syndrome +1 more	GUncertain significance
Select item 898113	NM_020184.4(CNNM4):c.1779C>G (p.His593Gln)	CNNM4 (H593Q)	Single nucleotide variant (missense variant)	Jalili syndrome	GUncertain significance
Select item 898112	NM_020184.4(CNNM4):c.1669T>C (p.Phe557Leu)	CNNM4 (F557L)	Single nucleotide variant (missense variant)	Jalili syndrome	GUncertain significance
Select item 896550	NM_020184.4(CNNM4):c.*753G>A	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 896549	NM_020184.4(CNNM4):c.*637T>C	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 896548	NM_020184.4(CNNM4):c.*479C>T	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 896490	NM_020184.4(CNNM4):c.1568G>A (p.Arg523Gln)	CNNM4 (R523Q)	Single nucleotide variant (missense variant)	Jalili syndrome +1 more	GUncertain significance
Select item 896489	NM_020184.4(CNNM4):c.1518G>A (p.Ser506=)	CNNM4	Single nucleotide variant (synonymous variant)	Jalili syndrome	GUncertain significance
Select item 896488	NM_020184.4(CNNM4):c.1500C>T (p.Ile500=)	CNNM4	Single nucleotide variant (synonymous variant)	Jalili syndrome +1 more	GConflicting classifications of pathogenicity
Select item 896487	NM_020184.4(CNNM4):c.1422C>T (p.Ile474=)	CNNM4	Single nucleotide variant (synonymous variant)	Jalili syndrome +1 more	GConflicting classifications of pathogenicity
Select item 895189	NM_020184.4(CNNM4):c.*2121G>A	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 895116	NM_020184.4(CNNM4):c.*286A>T	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 895115	NM_020184.4(CNNM4):c.*252G>C	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 895114	NM_020184.4(CNNM4):c.*204G>T	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 895113	NM_020184.4(CNNM4):c.*189G>T	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 895112	NM_020184.4(CNNM4):c.2296C>G (p.Leu766Val)	CNNM4 (L766V)	Single nucleotide variant (missense variant)	Jalili syndrome	GUncertain significance
Select item 895048	NM_020184.4(CNNM4):c.1312C>G (p.Leu438Val)	CNNM4 (L438V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 895047	NM_020184.4(CNNM4):c.1274A>C (p.Lys425Thr)	CNNM4 (K425T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 895046	NM_020184.4(CNNM4):c.1045G>A (p.Glu349Lys)	CNNM4 (E349K)	Single nucleotide variant (missense variant)	Jalili syndrome	GUncertain significance
Select item 895045	NM_020184.4(CNNM4):c.445G>T (p.Ala149Ser)	CNNM4 (A149S)	Single nucleotide variant (missense variant)	Jalili syndrome	GUncertain significance
Select item 829911	NM_020184.4(CNNM4):c.782T>C (p.Leu261Pro)	CNNM4 (L261P)	Single nucleotide variant (missense variant)	Jalili syndrome	GLikely pathogenic
Select item 812291	NM_020184.4(CNNM4):c.1494C>A (p.Asp498Glu)	CNNM4 (D498E)	Single nucleotide variant (missense variant)	Jalili syndrome	GPathogenic
Select item 801734	NM_020184.4(CNNM4):c.1547-1G>A	CNNM4	Single nucleotide variant (splice acceptor variant)	Jalili syndrome	GPathogenic
Select item 773839	NM_020184.4(CNNM4):c.1541T>C (p.Met514Thr)	CNNM4 (M514T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 773838	NM_020184.4(CNNM4):c.1461C>T (p.Phe487=)	CNNM4	Single nucleotide variant (synonymous variant)	Jalili syndrome +1 more	GBenign/Likely benign
Select item 721229	NM_020184.4(CNNM4):c.1851+9G>A	CNNM4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 635490	NM_020184.4(CNNM4):c.1312del (p.Leu438fs)	CNNM4 (L438fs)	Deletion (frameshift variant)	Jalili syndrome	GPathogenic
Select item 627568	NM_020184.4(CNNM4):c.1220G>T (p.Arg407Leu)	CNNM4 (R407L)	Single nucleotide variant (missense variant)	Jalili syndrome	GPathogenic
Select item 518456	NM_020184.4(CNNM4):c.1743C>G (p.Tyr581Ter)	CNNM4 (Y581*)	Single nucleotide variant (nonsense)	Jalili syndrome	GPathogenic
Select item 434794	NM_020184.4(CNNM4):c.1555C>T (p.Arg519Ter)	CNNM4 (R519*)	Single nucleotide variant (nonsense)	Jalili syndrome	GPathogenic
Select item 337619	NM_020184.4(CNNM4):c.*2256GTT[1]	CNNM4	Microsatellite (3 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 337618	NM_020184.4(CNNM4):c.*2120C>T	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome +1 more	GBenign
Select item 337617	NM_020184.4(CNNM4):c.*1990T>A	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GBenign
Select item 337616	NM_020184.4(CNNM4):c.*1974C>T	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GLikely benign
Select item 337615	NM_020184.4(CNNM4):c.*1937G>A	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 337614	NM_020184.4(CNNM4):c.*1754G>A	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 337613	NM_020184.4(CNNM4):c.*1693G>A	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GBenign
Select item 337612	NM_020184.4(CNNM4):c.*1565C>T	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 337611	NM_020184.4(CNNM4):c.*1517G>A	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 337610	NM_020184.4(CNNM4):c.*1516C>T	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GBenign
Select item 337609	NM_020184.4(CNNM4):c.*1482C>T	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GBenign
Select item 337608	NM_020184.4(CNNM4):c.*1362G>A	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 337607	NM_020184.4(CNNM4):c.*1244C>T	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GBenign
Select item 337606	NM_020184.4(CNNM4):c.*1158C>T	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 337605	NM_020184.4(CNNM4):c.*1056C>T	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GLikely benign
Select item 337604	NM_020184.4(CNNM4):c.*1045T>C	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 337603	NM_020184.4(CNNM4):c.*965A>G	CNNM4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 337602	NM_020184.4(CNNM4):c.*924G>A	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 337601	NM_020184.4(CNNM4):c.*560T>C	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GBenign
Select item 337600	NM_020184.4(CNNM4):c.*475C>T	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 337599	NM_020184.4(CNNM4):c.*459TCC[6]	CNNM4	Microsatellite (3 prime UTR variant)	Jalili syndrome	GLikely benign
Select item 337598	NM_020184.4(CNNM4):c.*364A>G	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 337597	NM_020184.4(CNNM4):c.*203del	CNNM4	Deletion (3 prime UTR variant)	Jalili syndrome +1 more	GUncertain significance
Select item 337596	NM_020184.4(CNNM4):c.*95T>C	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome	GLikely benign
Select item 337595	NM_020184.4(CNNM4):c.*91C>T	CNNM4	Single nucleotide variant (3 prime UTR variant)	Jalili syndrome +1 more	GBenign
Select item 337594	NM_020184.4(CNNM4):c.2255T>G (p.Val752Gly)	CNNM4 (V752G)	Single nucleotide variant (missense variant)	Jalili syndrome +2 more	GUncertain significance
Select item 337593	NM_020184.4(CNNM4):c.2218A>G (p.Met740Val)	CNNM4 (M740V)	Single nucleotide variant (missense variant)	Jalili syndrome	GUncertain significance
Select item 337592	NM_020184.4(CNNM4):c.2154C>T (p.Asn718=)	CNNM4	Single nucleotide variant (synonymous variant)	Jalili syndrome +1 more	GConflicting classifications of pathogenicity
Select item 337591	NM_020184.4(CNNM4):c.2137C>T (p.Arg713Trp)	CNNM4 (R713W)	Single nucleotide variant (missense variant)	Jalili syndrome +2 more	GUncertain significance
Select item 337590	NM_020184.4(CNNM4):c.1942C>T (p.Pro648Ser)	CNNM4 (P648S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 337589	NM_020184.4(CNNM4):c.1899G>A (p.Thr633=)	CNNM4	Single nucleotide variant (synonymous variant)	Jalili syndrome +1 more	GConflicting classifications of pathogenicity
Select item 337588	NM_020184.4(CNNM4):c.1824G>A (p.Pro608=)	CNNM4	Single nucleotide variant (synonymous variant)	Jalili syndrome +1 more	GBenign
Select item 337587	NM_020184.4(CNNM4):c.1614G>T (p.Ala538=)	CNNM4	Single nucleotide variant (synonymous variant)	Jalili syndrome	GUncertain significance
Select item 337586	NM_020184.4(CNNM4):c.1474G>A (p.Gly492Ser)	CNNM4 (G492S)	Single nucleotide variant (missense variant)	Jalili syndrome	GUncertain significance
Select item 337585	NM_020184.4(CNNM4):c.1326T>G (p.Thr442=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337584	NM_020184.4(CNNM4):c.788A>G (p.Asn263Ser)	CNNM4 (N263S)	Single nucleotide variant (missense variant)	Jalili syndrome +1 more	GUncertain significance
Select item 337583	NM_020184.4(CNNM4):c.591C>T (p.Gly197=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337582	NM_020184.4(CNNM4):c.556A>G (p.Ile186Val)	CNNM4 (I186V)	Single nucleotide variant (missense variant)	Jalili syndrome +2 more	GUncertain significance
Select item 337581	NM_020184.4(CNNM4):c.434T>C (p.Met145Thr)	CNNM4 (M145T)	Single nucleotide variant (missense variant)	Jalili syndrome +1 more	GBenign/Likely benign
Select item 337580	NM_020184.4(CNNM4):c.253A>G (p.Asn85Asp)	CNNM4 (N85D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 337579	NM_020184.4(CNNM4):c.243C>T (p.Tyr81=)	CNNM4	Single nucleotide variant (synonymous variant)	Jalili syndrome	GUncertain significance
Select item 337578	NM_020184.4(CNNM4):c.135G>A (p.Thr45=)	CNNM4	Single nucleotide variant (synonymous variant)	Jalili syndrome	GUncertain significance
Select item 337577	NM_020184.4(CNNM4):c.78G>A (p.Leu26=)	CNNM4	Single nucleotide variant (synonymous variant)	Jalili syndrome	GUncertain significance
Select item 337576	NM_020184.4(CNNM4):c.61C>G (p.Leu21Val)	CNNM4 (L21V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 337575	NM_020184.4(CNNM4):c.-90C>T	CNNM4	Single nucleotide variant (5 prime UTR variant)	Jalili syndrome	GUncertain significance
Select item 288785	NM_020184.4(CNNM4):c.91T>C (p.Trp31Arg)	CNNM4 (W31R)	Single nucleotide variant (missense variant)	Jalili syndrome +2 more	GUncertain significance
Select item 261212	NM_020184.4(CNNM4):c.1947C>T (p.Ser649=)	CNNM4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 252931	NM_020184.4(CNNM4):c.1682-1G>C	CNNM4	Single nucleotide variant (splice acceptor variant)	Jalili syndrome	GPathogenic
Select item 198236	NM_020184.4(CNNM4):c.2130+5G>A	CNNM4	Single nucleotide variant (intron variant)	Jalili syndrome +1 more	GUncertain significance
Select item 193424	NM_020184.4(CNNM4):c.-14A>C	CNNM4	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 95944	NM_020184.4(CNNM4):c.399G>A (p.Val133=)	CNNM4	Single nucleotide variant (synonymous variant)	Jalili syndrome +2 more	GBenign/Likely benign

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