ClinVar for MedGen (Select 413928) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243819	NC_000015.9:g.(?_73615988)_(73617901_?)del	HCN4	Deletion	Brugada syndrome 8	GUncertain significance
Select item 3243818	NC_000015.9:g.(?_73614822)_(73617805_?)del	HCN4	Deletion	Brugada syndrome 8	GUncertain significance
Select item 3243817	NC_000015.9:g.(?_72978569)_(75190071_?)del	ADPGK, ARID3B +29 more	Deletion	Brugada syndrome 8	GUncertain significance
Select item 3020758	NM_005477.3(HCN4):c.3218C>G (p.Pro1073Arg)	HCN4 (P1073R)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 3019996	NM_005477.3(HCN4):c.1209+20C>T	HCN4, LOC105370890	Single nucleotide variant (non-coding transcript variant +1 more)	Brugada syndrome 8	GLikely benign
Select item 3019746	NM_005477.3(HCN4):c.435C>G (p.Pro145=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 3019221	NM_005477.3(HCN4):c.1027A>T (p.Met343Leu)	HCN4, LOC105370890 +1 more (M343L)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 8	GUncertain significance
Select item 3017084	NM_005477.3(HCN4):c.785+17A>T	HCN4	Single nucleotide variant (intron variant)	Brugada syndrome 8	GLikely benign
Select item 3016419	NM_005477.3(HCN4):c.708C>T (p.Ser236=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 3015161	NM_005477.3(HCN4):c.1371+16C>T	HCN4	Single nucleotide variant (intron variant)	Brugada syndrome 8	GLikely benign
Select item 3014945	NM_005477.3(HCN4):c.3028G>A (p.Ala1010Thr)	HCN4 (A1010T)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 3010072	NM_005477.3(HCN4):c.3608T>C (p.Leu1203Pro)	HCN4 (L1203P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3007654	NM_005477.3(HCN4):c.165G>T (p.Ser55=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 3006733	NM_005477.3(HCN4):c.1414G>A (p.Ala472Thr)	HCN4 (A472T)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 3006239	NM_005477.3(HCN4):c.3223_3225del (p.Thr1075del)	HCN4 (T1075del)	Deletion (inframe_deletion)	Brugada syndrome 8	GUncertain significance
Select item 3004639	NM_005477.3(HCN4):c.2979G>C (p.Thr993=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 3002044	NM_005477.3(HCN4):c.1591-13C>T	HCN4	Single nucleotide variant (intron variant)	Brugada syndrome 8	GLikely benign
Select item 3001771	NM_005477.3(HCN4):c.2896A>C (p.Arg966=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2999319	NM_005477.3(HCN4):c.1686G>A (p.Lys562=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2996217	NM_005477.3(HCN4):c.1278C>T (p.Leu426=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2995861	NM_005477.3(HCN4):c.750C>T (p.Ala250=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2994488	NM_005477.3(HCN4):c.3564T>C (p.Pro1188=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2992835	NM_005477.3(HCN4):c.1387A>G (p.Lys463Glu)	HCN4 (K463E)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2992313	NM_005477.3(HCN4):c.3260C>T (p.Ser1087Phe)	HCN4 (S1087F)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2989368	NM_005477.3(HCN4):c.2373G>T (p.Val791=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2989263	NM_005477.3(HCN4):c.1590+11C>T	HCN4	Single nucleotide variant (intron variant)	Brugada syndrome 8	GLikely benign
Select item 2988757	NM_005477.3(HCN4):c.438A>T (p.Pro146=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2986835	NM_005477.3(HCN4):c.411_412delinsTC (p.Ser138Pro)	HCN4 (S138P)	Indel (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2985722	NM_005477.3(HCN4):c.1591-18C>G	HCN4	Single nucleotide variant (intron variant)	Brugada syndrome 8	GLikely benign
Select item 2984890	NM_005477.3(HCN4):c.2330T>G (p.Leu777Arg)	HCN4 (L777R)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2984583	NM_005477.3(HCN4):c.2907A>G (p.Ser969=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2980734	NM_005477.3(HCN4):c.3114C>A (p.Phe1038Leu)	HCN4 (F1038L)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2977865	NM_005477.3(HCN4):c.1590+9A>G	HCN4	Single nucleotide variant (intron variant)	Brugada syndrome 8	GLikely benign
Select item 2977427	NM_005477.3(HCN4):c.2313C>G (p.Pro771=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2975900	NM_005477.3(HCN4):c.32G>C (p.Arg11Pro)	HCN4 (R11P)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2975094	NM_005477.3(HCN4):c.2509C>T (p.Leu837=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2971085	NM_005477.3(HCN4):c.1842G>A (p.Glu614=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2967705	NM_005477.3(HCN4):c.3267T>C (p.Ser1089=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2967411	NM_005477.3(HCN4):c.3290G>A (p.Gly1097Glu)	HCN4 (G1097E)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2966248	NM_005477.3(HCN4):c.2767T>A (p.Ser923Thr)	HCN4 (S923T)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2966174	NM_005477.3(HCN4):c.2472G>A (p.Arg824=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2966172	NM_005477.3(HCN4):c.1551C>T (p.Ile517=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2965447	NM_005477.3(HCN4):c.3163C>T (p.Pro1055Ser)	HCN4 (P1055S)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2965042	NM_005477.3(HCN4):c.345C>T (p.Ser115=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2964913	NM_005477.3(HCN4):c.2492C>T (p.Ser831Phe)	HCN4 (S831F)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2963898	NM_005477.3(HCN4):c.3203G>C (p.Arg1068Pro)	HCN4 (R1068P)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2962317	NM_005477.3(HCN4):c.3370G>A (p.Gly1124Ser)	HCN4 (G1124S)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2960220	NM_005477.3(HCN4):c.1281G>T (p.Leu427=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2956991	NM_005477.3(HCN4):c.494C>A (p.Pro165Gln)	HCN4 (P165Q)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2955068	NM_005477.3(HCN4):c.2185C>G (p.Leu729Val)	HCN4 (L729V)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2919793	NM_005477.3(HCN4):c.928T>C (p.Leu310=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2919792	NM_005477.3(HCN4):c.1809C>T (p.Phe603=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2919791	NM_005477.3(HCN4):c.2022G>A (p.Arg674=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2919646	NM_005477.3(HCN4):c.2033A>G (p.Tyr678Cys)	HCN4 (Y678C)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2918486	NM_005477.3(HCN4):c.3436C>T (p.Pro1146Ser)	HCN4 (P1146S)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2918426	NM_005477.3(HCN4):c.3369G>A (p.Gly1123=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2917789	NM_005477.3(HCN4):c.271G>A (p.Gly91Ser)	HCN4 (G91S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2917092	NM_005477.3(HCN4):c.3165A>G (p.Pro1055=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2916841	NM_005477.3(HCN4):c.1210-10C>T	HCN4	Single nucleotide variant (intron variant)	Brugada syndrome 8	GLikely benign
Select item 2915438	NM_005477.3(HCN4):c.3452C>G (p.Thr1151Ser)	HCN4 (T1151S)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2915014	NM_005477.3(HCN4):c.2696T>G (p.Val899Gly)	HCN4 (V899G)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2915012	NM_005477.3(HCN4):c.3381G>A (p.Gly1127=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2914736	NM_005477.3(HCN4):c.2979G>T (p.Thr993=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +1 more	GLikely benign
Select item 2914681	NM_005477.3(HCN4):c.1209+15C>A	HCN4, LOC105370890	Single nucleotide variant (non-coding transcript variant +1 more)	Brugada syndrome 8	GLikely benign
Select item 2911382	NM_005477.3(HCN4):c.1591-16dup	HCN4	Duplication (intron variant)	Brugada syndrome 8	GBenign
Select item 2911362	NM_005477.3(HCN4):c.333C>T (p.Gly111=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2910730	NM_005477.3(HCN4):c.3111C>A (p.Thr1037=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2908946	NM_005477.3(HCN4):c.43C>T (p.Leu15Phe)	HCN4 (L15F)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2907220	NM_005477.3(HCN4):c.2164C>T (p.Leu722Phe)	HCN4 (L722F)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2906624	NM_005477.3(HCN4):c.3170C>T (p.Ala1057Val)	HCN4 (A1057V)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2905277	NM_005477.3(HCN4):c.10C>T (p.Leu4=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2905210	NM_005477.3(HCN4):c.2069A>T (p.Asn690Ile)	HCN4 (N690I)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2904347	NM_005477.3(HCN4):c.286_297del (p.Phe96_Ser99del)	HCN4	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 2903666	NM_005477.3(HCN4):c.3225C>T (p.Thr1075=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +1 more	GLikely benign
Select item 2903155	NM_005477.3(HCN4):c.3082C>G (p.Pro1028Ala)	HCN4 (P1028A)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2903133	NM_005477.3(HCN4):c.2269C>T (p.His757Tyr)	HCN4 (H757Y)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2902161	NM_005477.3(HCN4):c.1929C>T (p.Leu643=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2900371	NM_005477.3(HCN4):c.2500C>A (p.Pro834Thr)	HCN4 (P834T)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2899052	NM_005477.3(HCN4):c.690C>T (p.Ser230=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2898691	NM_005477.3(HCN4):c.3206G>T (p.Arg1069Leu)	HCN4 (R1069L)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2898652	NM_005477.3(HCN4):c.77T>C (p.Met26Thr)	HCN4 (M26T)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2897971	NM_005477.3(HCN4):c.235G>C (p.Gly79Arg)	HCN4 (G79R)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2897525	NM_005477.3(HCN4):c.785+9C>G	HCN4	Single nucleotide variant (intron variant)	Brugada syndrome 8	GLikely benign
Select item 2897524	NM_005477.3(HCN4):c.785+18T>C	HCN4	Single nucleotide variant (intron variant)	Brugada syndrome 8	GLikely benign
Select item 2897523	NM_005477.3(HCN4):c.2166C>T (p.Leu722=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2897522	NM_005477.3(HCN4):c.3177C>T (p.Ser1059=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2897521	NM_005477.3(HCN4):c.3282T>C (p.Pro1094=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2896942	NM_005477.3(HCN4):c.480G>T (p.Gln160His)	HCN4 (Q160H)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2894877	NM_005477.3(HCN4):c.2258C>T (p.Ala753Val)	HCN4 (A753V)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2893789	NM_005477.3(HCN4):c.33G>A (p.Arg11=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2893689	NM_005477.3(HCN4):c.2082G>A (p.Glu694=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2891520	NM_005477.3(HCN4):c.450C>G (p.Ala150=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2891289	NM_005477.3(HCN4):c.2099G>A (p.Arg700Gln)	HCN4 (R700Q)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2891207	NM_005477.3(HCN4):c.3489C>A (p.Pro1163=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2890903	NM_005477.3(HCN4):c.456C>T (p.Pro152=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2889966	NM_005477.3(HCN4):c.1966T>A (p.Ser656Thr)	HCN4 (S656T)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2888875	NM_005477.3(HCN4):c.2211G>T (p.Gln737His)	HCN4 (Q737H)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2886558	NM_005477.3(HCN4):c.1800C>T (p.Asp600=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2885201	NM_005477.3(HCN4):c.1570C>T (p.Arg524Trp)	HCN4 (R524W)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2885099	NM_005477.3(HCN4):c.606G>A (p.Pro202=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign

<< First< Prev

Page of 10