LOC126862173[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	ADPGK, ADPGK-AS1 +197 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	LOC116268473, LOC116268474 +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 1677899	NM_005477.3(HCN4):c.1168C>G (p.Arg390Gly)	HCN4, LOC105370890 +1 more (R390G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1034760	NM_005477.3(HCN4):c.1167dup (p.Arg390fs)	HCN4, LOC105370890 +1 more (R390fs)	Duplication (frameshift variant)	Brugada syndrome 8	GUncertain significance
Select item 660645	NM_005477.3(HCN4):c.1168C>T (p.Arg390Cys)	HCN4, LOC105370890 +1 more (R390C)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
Select item 1299905	NM_005477.3(HCN4):c.1162C>T (p.Leu388=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 1520845	NM_005477.3(HCN4):c.1158dup (p.Arg387fs)	HCN4, LOC105370890 +1 more (R387fs)	Duplication (frameshift variant)	Brugada syndrome 8	GUncertain significance
Select item 1024445	NM_005477.3(HCN4):c.1159C>G (p.Arg387Gly)	HCN4, LOC105370890 +1 more (R387G)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
Select item 998731	NM_005477.3(HCN4):c.1159C>T (p.Arg387Cys)	HCN4, LOC105370890 +1 more (R387C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 264040	NM_005477.3(HCN4):c.1155C>T (p.Leu385=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1266742	NM_005477.3(HCN4):c.1140G>A (p.Thr380=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +2 more	GLikely benign
Select item 1730598	NM_005477.3(HCN4):c.1139C>T (p.Thr380Met)	HCN4, LOC105370890 +1 more (T380M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2876881	NM_005477.3(HCN4):c.1137C>T (p.Phe379=)	LOC126862173, HCN4 +1 more	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 8	GLikely benign
Select item 1019873	NM_005477.3(HCN4):c.1133G>A (p.Arg378His)	HCN4, LOC105370890 +1 more (R378H)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 190779	NM_005477.3(HCN4):c.1132C>T (p.Arg378Cys)	HCN4, LOC105370890 +1 more (R378C)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +4 more	GConflicting classifications of pathogenicity
Select item 2133484	NM_005477.3(HCN4):c.1126A>G (p.Ile376Val)	HCN4, LOC105370890 +1 more (I376V)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
Select item 1514023	NM_005477.3(HCN4):c.1124G>A (p.Arg375His)	HCN4, LOC105370890 +1 more (R375H)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 571947	NM_005477.3(HCN4):c.1123C>T (p.Arg375Cys)	HCN4, LOC105370890 +1 more (R375C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3104525	NM_005477.3(HCN4):c.1120C>G (p.Leu374Val)	HCN4, LOC105370890 +1 more (L374V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1109349	NM_005477.3(HCN4):c.1120C>T (p.Leu374=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 950256	NM_005477.3(HCN4):c.1115G>A (p.Arg372Gln)	HCN4, LOC105370890 +1 more (R372Q)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 more	GUncertain significance
Select item 1794011	NM_005477.3(HCN4):c.1107G>A (p.Lys369=)	LOC105370890, LOC126862173 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 853718	NM_005477.3(HCN4):c.1103A>G (p.Tyr368Cys)	HCN4, LOC105370890 +1 more (Y368C)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 1112439	NM_005477.3(HCN4):c.1095G>A (p.Ser365=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1058362	NM_005477.3(HCN4):c.1094C>T (p.Ser365Leu)	HCN4, LOC105370890 +1 more (S365L)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 1399390	NM_005477.3(HCN4):c.1090G>C (p.Asp364His)	HCN4, LOC105370890 +1 more (D364H)	Single nucleotide variant (missense variant)	Sick sinus syndrome 2, autosomal dominant +2 more	GUncertain significance
Select item 519419	NM_005477.3(HCN4):c.1090G>T (p.Asp364Tyr)	HCN4, LOC105370890 +1 more (D364Y)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +3 more	GUncertain significance
Select item 412784	NM_005477.3(HCN4):c.1090G>A (p.Asp364Asn)	HCN4, LOC105370890 +1 more (D364N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 412787	NM_005477.3(HCN4):c.1089C>T (p.Ile363=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 650677	NM_005477.3(HCN4):c.1087A>G (p.Ile363Val)	LOC126862173, HCN4 +1 more (I363V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2117824	NM_005477.3(HCN4):c.1085G>A (p.Arg362His)	LOC105370890, LOC126862173 +1 more (R362H)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2876541	NM_005477.3(HCN4):c.1084C>T (p.Arg362Cys)	HCN4, LOC105370890 +1 more (R362C)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 8	GUncertain significance
Select item 1784745	NM_005477.3(HCN4):c.1075G>T (p.Val359Leu)	HCN4, LOC105370890 +1 more (V359L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1364791	NM_005477.3(HCN4):c.1074T>A (p.Ile358=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GUncertain significance
Select item 1054529	NM_005477.3(HCN4):c.1073T>C (p.Ile358Thr)	HCN4, LOC105370890 +1 more (I358T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 940585	NM_005477.3(HCN4):c.1070T>A (p.Leu357His)	HCN4, LOC105370890 +1 more (L357H)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 1782741	NM_005477.3(HCN4):c.1069C>T (p.Leu357Phe)	HCN4, LOC105370890 +1 more (L357F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1977079	NM_005477.3(HCN4):c.1063A>G (p.Ile355Val)	HCN4, LOC105370890 +1 more (I355V)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2565012	NM_005477.3(HCN4):c.1062C>T (p.Tyr354=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1359536	NM_005477.3(HCN4):c.1061A>G (p.Tyr354Cys)	HCN4, LOC105370890 +1 more (Y354C)	Single nucleotide variant (missense variant)	HCN4-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 966923	NM_005477.3(HCN4):c.1054G>A (p.Val352Met)	HCN4, LOC105370890 +1 more (V352M)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2742737	NM_005477.3(HCN4):c.1053del (p.Val352fs)	HCN4, LOC105370890 +1 more (V352fs)	Deletion (frameshift variant +1 more)	Brugada syndrome 8	GUncertain significance
Select item 1174971	NM_005477.3(HCN4):c.1053C>T (p.Pro351=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 1774974	NM_005477.3(HCN4):c.1044C>T (p.Ser348=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +1 more	GLikely benign
Select item 1571545	NM_005477.3(HCN4):c.1044C>G (p.Ser348=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2165587	NM_005477.3(HCN4):c.1038C>T (p.Phe346=)	HCN4, LOC105370890 +1 more	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 848292	NM_005477.3(HCN4):c.1027A>G (p.Met343Val)	HCN4, LOC105370890 +1 more (M343V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1513426	NM_005477.3(HCN4):c.1026C>G (p.Phe342Leu)	LOC105370890, LOC126862173 +1 more (F342L)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 18 +3 more	GUncertain significance
Select item 538087	NM_005477.3(HCN4):c.1023G>C (p.Trp341Cys)	HCN4, LOC105370890 +1 more (W341C)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2450265	NM_005477.3(HCN4):c.1020C>G (p.Ser340Arg)	HCN4, LOC105370890 +1 more (S340R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2078892	NM_005477.3(HCN4):c.1020C>T (p.Ser340=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2745594	NM_005477.3(HCN4):c.1018A>G (p.Ser340Gly)	HCN4, LOC105370890 +1 more (S340G)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 8	GUncertain significance
Select item 538097	NM_005477.3(HCN4):c.1014G>C (p.Leu338=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2004717	NM_005477.3(HCN4):c.1009T>C (p.Tyr337His)	HCN4, LOC105370890 +1 more (Y337H)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
Select item 2033673	NM_005477.3(HCN4):c.1008G>A (p.Lys336=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 691734	NM_005477.3(HCN4):c.1005G>T (p.Met335Ile)	HCN4, LOC105370890 +1 more (M335I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 470643	NM_005477.3(HCN4):c.1005G>A (p.Met335Ile)	HCN4, LOC105370890 +1 more (M335I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1779501	NM_005477.3(HCN4):c.1004T>G (p.Met335Arg)	HCN4, LOC105370890 +1 more (M335R)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
Select item 1677800	NM_005477.3(HCN4):c.1000A>G (p.Lys334Glu)	HCN4, LOC105370890 +1 more (K334E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 519261	NM_005477.3(HCN4):c.995G>A (p.Arg332Gln)	HCN4, LOC105370890 +1 more (R332Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 954774	NM_005477.3(HCN4):c.994C>T (p.Arg332Trp)	HCN4, LOC105370890 +1 more (R332W)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
Select item 2876414	NM_005477.3(HCN4):c.991C>A (p.Gln331Lys)	HCN4, LOC105370890 +1 more (Q331K)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 1574279	NM_005477.3(HCN4):c.990G>C (p.Pro330=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 697174	NM_005477.3(HCN4):c.990G>A (p.Pro330=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 388974	NM_005477.3(HCN4):c.990G>T (p.Pro330=)	LOC105370890, LOC126862173 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8 +1 more	GLikely benign
Select item 660833	NM_005477.3(HCN4):c.989C>T (p.Pro330Leu)	HCN4, LOC105370890 +1 more (P330L)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
Select item 1374620	NM_005477.3(HCN4):c.988C>A (p.Pro330Thr)	HCN4, LOC105370890 +1 more (P330T)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
Select item 538079	NM_005477.3(HCN4):c.988C>T (p.Pro330Ser)	HCN4, LOC105370890 +1 more (P330S)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 1504376	NM_005477.3(HCN4):c.987C>A (p.Asp329Glu)	HCN4, LOC105370890 +1 more (D329E)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 1145844	NM_005477.3(HCN4):c.984G>A (p.Leu328=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2852184	NM_005477.3(HCN4):c.978C>G (p.Ile326Met)	HCN4, LOC105370890 +1 more (I326M)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 1007056	NM_005477.3(HCN4):c.975G>T (p.Glu325Asp)	HCN4, LOC105370890 +1 more (E325D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 538095	NM_005477.3(HCN4):c.972A>G (p.Thr324=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2876239	NM_005477.3(HCN4):c.957G>A (p.Val319=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 860790	NM_005477.3(HCN4):c.955G>A (p.Val319Met)	HCN4, LOC105370890 +1 more (V319M)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +2 more	GUncertain significance
Select item 412785	NM_005477.3(HCN4):c.954C>T (p.Ile318=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 846864	NM_005477.3(HCN4):c.946A>T (p.Thr316Ser)	HCN4, LOC105370890 +1 more (T316S)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 1895528	NM_005477.3(HCN4):c.944G>A (p.Arg315His)	HCN4, LOC105370890 +1 more (R315H)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 1469260	NM_005477.3(HCN4):c.943C>T (p.Arg315Cys)	HCN4, LOC105370890 +1 more (R315C)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 2770364	NM_005477.3(HCN4):c.933C>T (p.Val311=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
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 1307595	NM_005477.3(HCN4):c.927C>G (p.Asp309Glu)	HCN4, LOC105370890 +1 more (D309E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074161	NM_005477.3(HCN4):c.925G>A (p.Asp309Asn)	HCN4, LOC105370890 +1 more (D309N)	Single nucleotide variant (missense variant)	Brugada syndrome 8	GUncertain significance
Select item 1123973	NM_005477.3(HCN4):c.924C>T (p.Ile308=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 1581580	NM_005477.3(HCN4):c.921C>T (p.Leu307=)	LOC105370890, HCN4 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2811673	NM_005477.3(HCN4):c.918C>T (p.Phe306=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 1058283	NM_005477.3(HCN4):c.915C>A (p.Phe305Leu)	LOC126862173, HCN4 +1 more (F305L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2824559	NM_005477.3(HCN4):c.903G>A (p.Val301=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 2868484	NM_005477.3(HCN4):c.900G>T (p.Val300=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Brugada syndrome 8	GLikely benign
Select item 3283648	NM_005477.3(HCN4):c.899T>C (p.Val300Ala)	HCN4, LOC105370890 +1 more (V300A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1765318	NM_005477.3(HCN4):c.897T>C (p.Asn299=)	HCN4, LOC105370890 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign

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