ClinVar for Gene (Select 26504) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3062623	GRCh37/hg19 2q11.1-11.2(chr2:96735977-98212850)x3	ADRA2B, ANKRD23 +20 more	Copy number gain	not specified	GUncertain significance
Select item 3061478	NM_020184.4(CNNM4):c.*7G>A	CNNM4	Single nucleotide variant (3 prime UTR variant)	CNNM4-related condition	GLikely benign
Select item 3050112	NM_020184.4(CNNM4):c.1269C>A (p.Tyr423Ter)	CNNM4 (Y423*)	Single nucleotide variant (nonsense)	CNNM4-related condition	GLikely pathogenic
Select item 3024612	GRCh37/hg19 2q11.1-11.2(chr2:96780545-98098961)x1	LMAN2L, NCAPH +19 more	Copy number loss	not provided	GPathogenic
Select item 3012424	NM_020184.4(CNNM4):c.1743C>T (p.Tyr581=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009676	NM_020184.4(CNNM4):c.85C>T (p.Leu29=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003278	NM_020184.4(CNNM4):c.2131-5T>C	CNNM4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998967	NM_020184.4(CNNM4):c.1682-9C>G	CNNM4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997406	NM_020184.4(CNNM4):c.282C>T (p.Thr94=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983233	NM_020184.4(CNNM4):c.561C>T (p.Leu187=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977921	NM_020184.4(CNNM4):c.1842C>A (p.Leu614=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977920	NM_020184.4(CNNM4):c.1839C>T (p.Ile613=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915788	NM_020184.4(CNNM4):c.269T>C (p.Leu90Pro)	CNNM4 (L90P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873121	NM_020184.4(CNNM4):c.120C>T (p.Ser40=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830836	NM_020184.4(CNNM4):c.1949-6C>T	CNNM4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818279	NM_020184.4(CNNM4):c.1949-13G>T	CNNM4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800815	NM_020184.4(CNNM4):c.1101A>G (p.Glu367=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788411	NM_020184.4(CNNM4):c.471_484del (p.Asp157fs)	CNNM4 (D157fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2768104	NM_020184.4(CNNM4):c.2035_2053dup (p.Gln685fs)	CNNM4 (Q685fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2750673	NM_020184.4(CNNM4):c.1824G>C (p.Pro608=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744820	NM_020184.4(CNNM4):c.2205G>T (p.Gly735=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2705601	NM_020184.4(CNNM4):c.297C>G (p.Ala99=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685859	GRCh37/hg19 2q11.1-11.2(chr2:96732520-99142320)x3	ACTR1B, ADRA2B +27 more	Copy number gain	not provided	GUncertain significance
Select item 2685858	GRCh37/hg19 2q11.1-11.2(chr2:96732520-97671333)x3	ADRA2B, ANKRD23 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 2671593	Single allele	ADRA2B, ANKRD23 +20 more	Deletion	not provided	GUncertain significance
Select item 2651153	NM_020184.4(CNNM4):c.2238G>A (p.Lys746=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2603150	NM_020184.4(CNNM4):c.34G>T (p.Gly12Cys)	CNNM4 (G12C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2578864	NM_020184.4(CNNM4):c.671A>G (p.Lys224Arg)	CNNM4 (K224R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2535324	NM_020184.4(CNNM4):c.2260G>A (p.Glu754Lys)	CNNM4 (E754K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494537	NM_020184.4(CNNM4):c.998G>T (p.Arg333Leu)	CNNM4 (R333L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475562	NM_020184.4(CNNM4):c.40C>G (p.Pro14Ala)	CNNM4 (P14A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426525	NC_000002.11:g.(?_97462729)_(97475254_?)dup	CNNM4	Duplication	not provided	GUncertain significance
Select item 2402299	NM_020184.4(CNNM4):c.2233G>A (p.Glu745Lys)	CNNM4 (E745K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324874	NM_020184.4(CNNM4):c.349G>A (p.Val117Ile)	CNNM4 (V117I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297586	NM_020184.4(CNNM4):c.388G>C (p.Gly130Arg)	CNNM4 (G130R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271504	NM_020184.4(CNNM4):c.1810A>G (p.Thr604Ala)	CNNM4 (T604A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256777	NM_020184.4(CNNM4):c.1793C>G (p.Ala598Gly)	CNNM4 (A598G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217189	NM_020184.4(CNNM4):c.113A>T (p.Gln38Leu)	CNNM4 (Q38L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203115	NM_020184.4(CNNM4):c.1091del (p.Gly364fs)	CNNM4 (G364fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2166168	NM_020184.4(CNNM4):c.2280C>T (p.Asn760=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2148770	NM_020184.4(CNNM4):c.1875G>T (p.Gly625=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2138353	NM_020184.4(CNNM4):c.2259C>T (p.Asp753=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2133641	NM_020184.4(CNNM4):c.738G>A (p.Leu246=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133626	NM_020184.4(CNNM4):c.1965C>T (p.His655=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133625	NM_020184.4(CNNM4):c.1964del (p.His655fs)	CNNM4 (H655fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2133273	NM_020184.4(CNNM4):c.1963C>T (p.His655Tyr)	CNNM4 (H655Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132171	NM_020184.4(CNNM4):c.1239C>T (p.Asp413=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2122032	NM_020184.4(CNNM4):c.1085T>C (p.Ile362Thr)	CNNM4 (I362T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121966	NM_020184.4(CNNM4):c.1539C>T (p.Asp513=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2121298	NM_020184.4(CNNM4):c.749A>G (p.Asn250Ser)	CNNM4 (N250S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115739	NM_020184.4(CNNM4):c.821C>G (p.Ser274Cys)	CNNM4 (S274C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114369	NM_020184.4(CNNM4):c.1759G>T (p.Glu587Ter)	CNNM4 (E587*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2113730	NM_020184.4(CNNM4):c.69G>A (p.Ala23=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113417	NM_020184.4(CNNM4):c.945C>T (p.Pro315=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2108255	NM_020184.4(CNNM4):c.957C>A (p.Pro319=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2106564	NM_020184.4(CNNM4):c.96G>C (p.Ala32=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2102398	NM_020184.4(CNNM4):c.1336A>G (p.Asn446Asp)	CNNM4 (N446D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097834	NM_020184.4(CNNM4):c.1321A>G (p.Ile441Val)	CNNM4 (I441V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095881	NM_020184.4(CNNM4):c.526C>G (p.Pro176Ala)	CNNM4 (P176A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094828	NM_020184.4(CNNM4):c.1767G>A (p.Lys589=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094169	NM_020184.4(CNNM4):c.1966C>G (p.Pro656Ala)	CNNM4 (P656A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093854	NM_020184.4(CNNM4):c.648C>T (p.Ile216=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2091170	NM_020184.4(CNNM4):c.1546A>G (p.Thr516Ala)	CNNM4 (T516A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089865	NM_020184.4(CNNM4):c.633C>A (p.Pro211=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2087058	NM_020184.4(CNNM4):c.1911C>T (p.Ser637=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084124	NM_020184.4(CNNM4):c.1813C>T (p.Arg605Ter)	CNNM4 (R605*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2083429	NM_020184.4(CNNM4):c.1926G>A (p.Met642Ile)	CNNM4 (M642I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083119	NM_020184.4(CNNM4):c.1122G>A (p.Glu374=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2080848	NM_020184.4(CNNM4):c.2251G>C (p.Val751Leu)	CNNM4 (V751L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071564	NM_020184.4(CNNM4):c.385T>A (p.Ser129Thr)	CNNM4 (S129T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068164	NM_020184.4(CNNM4):c.846T>G (p.Phe282Leu)	CNNM4 (F282L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058231	NM_020184.4(CNNM4):c.1241A>T (p.Glu414Val)	CNNM4 (E414V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2054010	NM_020184.4(CNNM4):c.2085C>T (p.Ile695=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2041485	NM_020184.4(CNNM4):c.1699C>G (p.Pro567Ala)	CNNM4 (P567A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038789	NM_020184.4(CNNM4):c.7C>G (p.Pro3Ala)	CNNM4 (P3A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038573	NM_020184.4(CNNM4):c.1103T>G (p.Leu368Arg)	CNNM4 (L368R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036150	NM_020184.4(CNNM4):c.340del (p.Asp114fs)	CNNM4 (D114fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2034057	NM_020184.4(CNNM4):c.2130+20_2189delinsATG	CNNM4	Indel (splice acceptor variant)	not provided	GUncertain significance
Select item 2026992	NM_020184.4(CNNM4):c.1682-18_1682-17del	CNNM4	Deletion (intron variant)	not provided	GLikely benign
Select item 2025646	NM_020184.4(CNNM4):c.1234G>T (p.Glu412Ter)	CNNM4 (E412*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2022581	NM_020184.4(CNNM4):c.2130+12A>G	CNNM4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2022164	NM_020184.4(CNNM4):c.1033T>C (p.Leu345=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2020859	NM_020184.4(CNNM4):c.1737C>T (p.Leu579=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2019657	NM_020184.4(CNNM4):c.2301C>T (p.His767=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2015384	NM_020184.4(CNNM4):c.411G>T (p.Lys137Asn)	CNNM4 (K137N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013699	NM_020184.4(CNNM4):c.86del (p.Leu29fs)	CNNM4 (L29fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2012827	NM_020184.4(CNNM4):c.1851+15C>T	CNNM4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2011250	NM_020184.4(CNNM4):c.1971C>G (p.Thr657=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2008512	NM_020184.4(CNNM4):c.1616A>C (p.Asp539Ala)	CNNM4 (D539A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007753	NM_020184.4(CNNM4):c.193A>C (p.Ile65Leu)	CNNM4 (I65L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007450	NM_020184.4(CNNM4):c.1632G>A (p.Val544=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2005741	NM_020184.4(CNNM4):c.1475del (p.Gly492fs)	CNNM4 (G492fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2003546	NM_020184.4(CNNM4):c.34G>C (p.Gly12Arg)	CNNM4 (G12R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003050	NM_020184.4(CNNM4):c.2032A>G (p.Thr678Ala)	CNNM4 (T678A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001435	NM_020184.4(CNNM4):c.158G>A (p.Ser53Asn)	CNNM4 (S53N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997077	NM_020184.4(CNNM4):c.1488G>A (p.Leu496=)	CNNM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1995936	NM_020184.4(CNNM4):c.668A>T (p.Glu223Val)	CNNM4 (E223V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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