10021[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1744

<< First< Prev

Page of 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	ADPGK, ADPGK-AS1 +196 more	Copy number loss	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 58078	GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3	ADPGK, ADPGK-AS1 +204 more	Copy number gain	See cases	GPathogenic
Select item 545182	Single allele	LOC130057525, LOC130057526 +205 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 154681	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1	LOC130057584, LOC130057585 +202 more	Copy number loss	See cases	GPathogenic
Select item 148272	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1	ADPGK, ADPGK-AS1 +195 more	Copy number loss	See cases	GLikely pathogenic
Select item 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	ADPGK, ADPGK-AS1 +236 more	Copy number loss	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	LOC130057567, LOC130057568 +243 more	Copy number loss	See cases	GPathogenic
Select item 885564	NM_005477.3(HCN4):c.*2585G>A	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 885565	NM_005477.3(HCN4):c.*2581C>T	HCN4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 885566	NM_005477.3(HCN4):c.*2445C>T	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
Select item 885567	NM_005477.3(HCN4):c.*2393C>G	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
Select item 885568	NM_005477.3(HCN4):c.*2354A>G	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
Select item 885569	NM_005477.3(HCN4):c.*2241T>C	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 886589	NM_005477.3(HCN4):c.*2010A>C	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 886590	NM_005477.3(HCN4):c.*1989G>A	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
Select item 886591	NM_005477.3(HCN4):c.*1834G>T	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 886592	NM_005477.3(HCN4):c.*1659A>G	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
Select item 886593	NM_005477.3(HCN4):c.*1598A>G	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant +2 more	GUncertain significance
Select item 886594	NM_005477.3(HCN4):c.*1490A>C	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
Select item 886595	NM_005477.3(HCN4):c.*1482A>G	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
Select item 886596	NM_005477.3(HCN4):c.*1205A>G	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 887841	NM_005477.3(HCN4):c.*1197T>C	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
Select item 887842	NM_005477.3(HCN4):c.*1172A>G	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 887843	NM_005477.3(HCN4):c.*1140G>A	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
Select item 887844	NM_005477.3(HCN4):c.*1085A>C	HCN4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887845	NM_005477.3(HCN4):c.*980C>T	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 887846	NM_005477.3(HCN4):c.*901C>T	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 887847	NM_005477.3(HCN4):c.*847A>G	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 887848	NM_005477.3(HCN4):c.*844G>A	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
Select item 884687	NM_005477.3(HCN4):c.*767C>T	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 884688	NM_005477.3(HCN4):c.*708A>G	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
Select item 884689	NM_005477.3(HCN4):c.*634C>T	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
Select item 884690	NM_005477.3(HCN4):c.*592G>A	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 884691	NM_005477.3(HCN4):c.*414C>A	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
Select item 884692	NM_005477.3(HCN4):c.*168A>G	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 884693	NM_005477.3(HCN4):c.*127A>G	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GBenign
Select item 1288341	NM_005477.3(HCN4):c.*112AC[3]	HCN4	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 884694	NM_005477.3(HCN4):c.*104A>T	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 885635	NM_005477.3(HCN4):c.*44C>T	HCN4	Single nucleotide variant (3 prime UTR variant)	Sick sinus syndrome 2, autosomal dominant	GUncertain significance
Select item 289951	NM_005477.3(HCN4):c.*8C>T	HCN4	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1210474	NM_005477.3(HCN4):c.*2C>G	HCN4	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 837958	NM_005477.3(HCN4):c.3609A>G (p.Leu1203=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 3010072	NM_005477.3(HCN4):c.3608T>C (p.Leu1203Pro)	HCN4 (L1203P)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 538092	NM_005477.3(HCN4):c.3605A>G (p.Asn1202Ser)	HCN4 (N1202S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2565017	NM_005477.3(HCN4):c.3602C>T (p.Ser1201Phe)	HCN4 (S1201F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2565016	NM_005477.3(HCN4):c.3600_3602delinsGTT (p.Ser1201Phe)	HCN4 (S1201F)	Indel (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 799842	NM_005477.3(HCN4):c.3600A>T (p.Pro1200=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 575303	NM_005477.3(HCN4):c.3599_3600inv (p.Pro1200Leu)	HCN4 (P1200L)	Inversion (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 95285	NM_005477.3(HCN4):c.3600A>G (p.Pro1200=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign
Select item 1141786	NM_005477.3(HCN4):c.3597G>A (p.Leu1199=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 502460	NM_005477.3(HCN4):c.3596T>A (p.Leu1199Gln)	HCN4 (L1199Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1732991	NM_005477.3(HCN4):c.3590C>T (p.Ser1197Phe)	HCN4 (S1197F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 198820	NM_005477.3(HCN4):c.3587G>A (p.Arg1196His)	HCN4 (R1196H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign
Select item 1385984	NM_005477.3(HCN4):c.3586C>A (p.Arg1196Ser)	HCN4 (R1196S)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 538090	NM_005477.3(HCN4):c.3586C>T (p.Arg1196Cys)	HCN4 (R1196C)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
Select item 1732918	NM_005477.3(HCN4):c.3583G>T (p.Val1195Leu)	HCN4 (V1195L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 489266	NM_005477.3(HCN4):c.3582A>G (p.Pro1194=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1343014	NM_005477.3(HCN4):c.3581C>T (p.Pro1194Leu)	HCN4 (P1194L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1110861	NM_005477.3(HCN4):c.3579G>A (p.Glu1193=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 191449	NM_005477.3(HCN4):c.3577G>C (p.Glu1193Gln)	HCN4 (E1193Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2837424	NM_005477.3(HCN4):c.3575C>G (p.Pro1192Arg)	HCN4 (P1192R)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 579946	NM_005477.3(HCN4):c.3575C>T (p.Pro1192Leu)	HCN4 (P1192L)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 1540114	NM_005477.3(HCN4):c.3570C>T (p.Ala1190=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2881606	NM_005477.3(HCN4):c.3568G>T (p.Ala1190Ser)	HCN4 (A1190S)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 404135	NM_005477.3(HCN4):c.3568G>A (p.Ala1190Thr)	HCN4 (A1190T)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
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 1732655	NM_005477.3(HCN4):c.3558G>A (p.Arg1186=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2020440	NM_005477.3(HCN4):c.3555G>A (p.Gln1185=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2861828	NM_005477.3(HCN4):c.3551C>G (p.Pro1184Arg)	HCN4 (P1184R)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2705462	NM_005477.3(HCN4):c.3550C>G (p.Pro1184Ala)	HCN4 (P1184A)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 1541318	NM_005477.3(HCN4):c.3549A>G (p.Gly1183=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2007517	NM_005477.3(HCN4):c.3541_3544del (p.Thr1181fs)	HCN4 (T1181fs)	Deletion (frameshift variant)	Brugada syndrome 8	GUncertain significance
Select item 941815	NM_005477.3(HCN4):c.3541A>C (p.Thr1181Pro)	HCN4 (T1181P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1934156	NM_005477.3(HCN4):c.3527_3540del (p.Gly1176fs)	HCN4 (G1176fs)	Deletion (frameshift variant)	Brugada syndrome 8	GUncertain significance
Select item 1307186	NM_005477.3(HCN4):c.3536dup (p.Leu1180fs)	HCN4 (L1180fs)	Duplication (frameshift variant)	Brugada syndrome 8 +3 more	GUncertain significance
Select item 1732403	NM_005477.3(HCN4):c.3536C>T (p.Pro1179Leu)	HCN4 (P1179L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1040816	NM_005477.3(HCN4):c.3533C>T (p.Pro1178Leu)	HCN4 (P1178L)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 1380724	NM_005477.3(HCN4):c.3532C>T (p.Pro1178Ser)	HCN4 (P1178S)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
Select item 1665425	NM_005477.3(HCN4):c.3531G>C (p.Gly1177=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 1514095	NM_005477.3(HCN4):c.3531del (p.Pro1179fs)	HCN4 (P1179fs)	Deletion (frameshift variant)	Brugada syndrome 8 +2 more	GUncertain significance
Select item 701673	NM_005477.3(HCN4):c.3531G>A (p.Gly1177=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 382170	NM_005477.3(HCN4):c.3531G>T (p.Gly1177=)	HCN4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2850947	NM_005477.3(HCN4):c.3530G>T (p.Gly1177Val)	HCN4 (G1177V)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 1380190	NM_005477.3(HCN4):c.3529G>A (p.Gly1177Arg)	HCN4 (G1177R)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2565010	NM_005477.3(HCN4):c.3527G>C (p.Gly1176Ala)	HCN4 (G1176A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2738232	NM_005477.3(HCN4):c.3526G>T (p.Gly1176Trp)	HCN4 (G1176W)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 404126	NM_005477.3(HCN4):c.3526G>C (p.Gly1176Arg)	HCN4 (G1176R)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
Select item 2450264	NM_005477.3(HCN4):c.3524C>A (p.Ser1175Tyr)	HCN4 (S1175Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1541761	NM_005477.3(HCN4):c.3513A>G (p.Arg1171=)	HCN4	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 1936884	NM_005477.3(HCN4):c.3512G>A (p.Arg1171Lys)	HCN4 (R1171K)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 190790	NM_005477.3(HCN4):c.3512G>T (p.Arg1171Ile)	HCN4 (R1171I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1910173	NM_005477.3(HCN4):c.3506G>T (p.Gly1169Val)	HCN4 (G1169V)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 191377	NM_005477.3(HCN4):c.3502_3505del (p.Phe1168fs)	HCN4 (F1168fs)	Microsatellite (frameshift variant)	Brugada syndrome 8 +5 more	GUncertain significance
Select item 1732004	NM_005477.3(HCN4):c.3499_3504del (p.Leu1167_Phe1168del)	HCN4	Deletion (inframe_deletion)	Cardiovascular phenotype	GUncertain significance
Select item 1732091	NM_005477.3(HCN4):c.3503T>G (p.Phe1168Cys)	HCN4 (F1168C)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
Select item 835426	NM_005477.3(HCN4):c.3503T>C (p.Phe1168Ser)	HCN4 (F1168S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1063007	NM_005477.3(HCN4):c.3501G>C (p.Leu1167Phe)	HCN4 (L1167F)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance

<< First< Prev

Page of 18