9992[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 1684637	Single allele	ATP5PO, C21orf62 +107 more	Deletion	ZTTK syndrome	GPathogenic
Select item 683556	NM_172201.1(KCNE2):c.-297G>A	KCNE2, LOC105372791	Single nucleotide variant	not provided	GBenign
Select item 339713	NM_172201.2(KCNE2):c.-121C>T	KCNE2, LOC105372791	Single nucleotide variant (5 prime UTR variant)	Familial atrial fibrillation +4 more	GUncertain significance
Select item 339714	NM_172201.2(KCNE2):c.-85G>A	KCNE2, LOC105372791	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 339715	NM_172201.2(KCNE2):c.-80C>T	KCNE2, LOC105372791	Single nucleotide variant (5 prime UTR variant)	Congenital long QT syndrome +2 more	GUncertain significance
Select item 339716	NM_172201.2(KCNE2):c.-79G>A	KCNE2, LOC105372791	Single nucleotide variant (5 prime UTR variant)	Long QT syndrome 6 +3 more	GBenign/Likely benign
Select item 339717	NM_172201.2(KCNE2):c.-52G>A	KCNE2, LOC105372791	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 190791	NM_172201.2(KCNE2):c.-30T>C	KCNE2, LOC105372791	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 1249109	NM_172201.2(KCNE2):c.-19T>A	KCNE2, LOC105372791	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 190793	NM_172201.2(KCNE2):c.-13+5G>A	KCNE2, LOC105372791	Single nucleotide variant (intron variant)	Congenital long QT syndrome +3 more	GUncertain significance
Select item 1188351	NM_172201.2(KCNE2):c.-13+313T>C	KCNE2, LOC105372791	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291245	NM_172201.2(KCNE2):c.-12-56C>T	KCNE2, LOC105372791	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242701	NM_172201.2(KCNE2):c.-12-44C>T	KCNE2, LOC105372791	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202849	NM_172201.2(KCNE2):c.-12-27T>C	KCNE2, LOC105372791	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262799	NM_172201.2(KCNE2):c.-12-16A>G	KCNE2, LOC105372791	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 659161	NM_172201.2(KCNE2):c.2T>C (p.Met1Thr)	KCNE2, LOC105372791 (M1T)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 1217300	NM_172201.2(KCNE2):c.13T>C (p.Ser5Pro)	KCNE2, LOC105372791 (S5P)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +2 more	GUncertain significance
Select item 1304831	NM_172201.2(KCNE2):c.14C>T (p.Ser5Phe)	KCNE2, LOC105372791 (S5F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 895204	NM_172201.2(KCNE2):c.17A>G (p.Asn6Ser)	KCNE2, LOC105372791 (N6S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 67615	NM_172201.2(KCNE2):c.22A>G (p.Thr8Ala)	KCNE2, LOC105372791 (T8A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 3229283	NM_172201.2(KCNE2):c.23C>A (p.Thr8Lys)	KCNE2, LOC105372791 (T8K)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1790707	NM_172201.2(KCNE2):c.23C>T (p.Thr8Ile)	KCNE2, LOC105372791 (T8I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 518756	NM_172201.2(KCNE2):c.25C>T (p.Gln9Ter)	KCNE2, LOC105372791 (Q9*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GUncertain significance
Select item 6052	NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu)	KCNE2, LOC105372791 (Q9E)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 2886864	NM_172201.2(KCNE2):c.26A>T (p.Gln9Leu)	KCNE2, LOC105372791 (Q9L)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome 6	GUncertain significance
Select item 67619	NM_172201.2(KCNE2):c.29C>T (p.Thr10Met)	LOC105372791, KCNE2 (T10M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 671162	NM_172201.2(KCNE2):c.30G>A (p.Thr10=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2127889	NM_172201.2(KCNE2):c.31C>G (p.Leu11Val)	KCNE2, LOC105372791 (L11V)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 3287552	NM_172201.2(KCNE2):c.37G>A (p.Asp13Asn)	KCNE2, LOC105372791 (D13N)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 519253	NM_172201.2(KCNE2):c.39C>T (p.Asp13=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6 +1 more	GLikely benign
Select item 67621	NM_172201.2(KCNE2):c.40G>A (p.Val14Ile)	LOC105372791, KCNE2 (V14I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1738649	NM_172201.2(KCNE2):c.41T>A (p.Val14Asp)	KCNE2, LOC105372791 (V14D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1556903	NM_172201.2(KCNE2):c.42C>A (p.Val14=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6	GLikely benign
Select item 1014862	NM_172201.2(KCNE2):c.46C>T (p.Arg16Ter)	KCNE2, LOC105372791 (R16*)	Single nucleotide variant (nonsense)	Long QT syndrome 6 +2 more	GUncertain significance
Select item 190794	NM_172201.2(KCNE2):c.47G>A (p.Arg16Gln)	KCNE2, LOC105372791 (R16Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 67622	NM_172201.2(KCNE2):c.59T>A (p.Ile20Asn)	KCNE2, LOC105372791 (I20N)	Single nucleotide variant (missense variant)	Congenital long QT syndrome	Gnot provided
Select item 514117	NM_172201.2(KCNE2):c.60T>C (p.Ile20=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Long QT syndrome 6 +1 more	GLikely benign
Select item 1753333	NM_172201.2(KCNE2):c.63T>C (p.Thr21=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3229284	NM_172201.2(KCNE2):c.65A>T (p.Tyr22Phe)	KCNE2, LOC105372791 (Y22F)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 560697	NM_172201.2(KCNE2):c.67A>T (p.Met23Leu)	KCNE2, LOC105372791 (M23L)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +3 more	GUncertain significance
Select item 705145	NM_172201.2(KCNE2):c.75T>C (p.Asn25=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1172865	NM_172201.2(KCNE2):c.79C>A (p.Arg27Ser)	KCNE2, LOC105372791 (R27S)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 6055	NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys)	KCNE2, LOC105372791 (R27C)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +3 more	GConflicting classifications of pathogenicity
Select item 67623	NM_172201.2(KCNE2):c.80G>A (p.Arg27His)	LOC105372791, KCNE2 (R27H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1721226	NM_172201.2(KCNE2):c.86A>T (p.Asn29Ile)	KCNE2, LOC105372791 (N29I)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 1100648	NM_172201.2(KCNE2):c.87C>T (p.Asn29=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1485015	NM_172201.2(KCNE2):c.89C>T (p.Thr30Ile)	KCNE2, LOC105372791 (T30I)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 429273	NM_172201.2(KCNE2):c.97G>A (p.Glu33Lys)	KCNE2, LOC105372791 (E33K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082091	NM_172201.2(KCNE2):c.116C>G (p.Ala39Gly)	KCNE2, LOC105372791 (A39G)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 2147375	NM_172201.2(KCNE2):c.119A>C (p.Lys40Thr)	KCNE2, LOC105372791 (K40T)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 577399	NM_172201.2(KCNE2):c.122T>C (p.Val41Ala)	KCNE2, LOC105372791 (V41A)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 1771977	NM_172201.2(KCNE2):c.140A>G (p.Tyr47Cys)	KCNE2, LOC105372791 (Y47C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2886091	NM_172201.2(KCNE2):c.141C>T (p.Tyr47=)	KCNE2, LOC105372791	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome 6	GLikely benign
Select item 1306180	NM_172201.2(KCNE2):c.141del (p.Tyr48fs)	KCNE2, LOC105372791 (Y48fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1475863	NM_172201.2(KCNE2):c.144dup (p.Val49fs)	LOC105372791, KCNE2 (V49fs)	Duplication (frameshift variant)	Long QT syndrome 6 +2 more	GConflicting classifications of pathogenicity
Select item 1773531	NM_172201.2(KCNE2):c.147C>T (p.Val49=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 339718	NM_172201.2(KCNE2):c.153G>T (p.Leu51=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 2038256	NM_172201.2(KCNE2):c.163_165dup (p.Val55_Met56insVal)	KCNE2, LOC105372791	Duplication (inframe_insertion)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 938947	NM_172201.2(KCNE2):c.160A>G (p.Met54Val)	KCNE2, LOC105372791 (M54V)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 6053	NM_172201.2(KCNE2):c.161T>C (p.Met54Thr)	KCNE2, LOC105372791 (M54T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity; risk factor
Select item 67610	NM_172201.2(KCNE2):c.166A>G (p.Met56Val)	KCNE2, LOC105372791 (M56V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 6054	NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)	KCNE2, LOC105372791 (I57T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 846911	NM_172201.2(KCNE2):c.171T>G (p.Ile57Met)	KCNE2, LOC105372791 (I57M)	Single nucleotide variant (missense variant)	Long QT syndrome 6	GUncertain significance
Select item 2562644	NM_172201.2(KCNE2):c.177G>A (p.Met59Ile)	KCNE2, LOC105372791 (M59I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 898248	NM_172201.2(KCNE2):c.178T>A (p.Phe60Ile)	KCNE2, LOC105372791 (F60I)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +1 more	GUncertain significance
Select item 6056	NM_172201.2(KCNE2):c.178T>C (p.Phe60Leu)	KCNE2, LOC105372791 (F60L)	Single nucleotide variant (missense variant)	Long QT syndrome 3/6, digenic	GPathogenic
Select item 2447578	NM_172201.2(KCNE2):c.181T>C (p.Ser61Pro)	KCNE2, LOC105372791 (S61P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1781145	NM_172201.2(KCNE2):c.183T>G (p.Ser61=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3287551	NM_172201.2(KCNE2):c.189C>T (p.Ile63=)	KCNE2, LOC105372791	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 471499	NM_172201.2(KCNE2):c.190A>G (p.Ile64Val)	KCNE2, LOC105372791 (I64V)	Single nucleotide variant (missense variant)	Long QT syndrome 6 +1 more	GConflicting classifications of pathogenicity
Select item 1782835	NM_172201.2(KCNE2):c.192C>T (p.Ile64=)	KCNE2, LOC105372791	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign

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