6330[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	ABCG4, APOA1 +355 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	MPZL3, MSANTD2 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC129390375, LOC129390376 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	POU2F3, PRDM10 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	ABCG4, ACAD8 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130006854, LOC130006855 +499 more	Copy number gain	See cases	GPathogenic
Select item 302581	NM_174934.4(SCN4B):c.*3632del	SCN4B	Deletion (3 prime UTR variant +1 more)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 302582	NM_174934.4(SCN4B):c.3607_3611del	SCN4B	Deletion (3 prime UTR variant +1 more)	Congenital long QT syndrome +1 more	GLikely benign
Select item 302583	NM_174934.4(SCN4B):c.*3549G>A	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 302584	NM_174934.4(SCN4B):c.*3279G>A	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302585	NM_174934.4(SCN4B):c.*3054T>C	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302586	NM_174934.4(SCN4B):c.*3004G>A	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 302587	NM_174934.4(SCN4B):c.*2977A>G	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 302588	NM_174934.4(SCN4B):c.*2952G>A	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302589	NM_174934.4(SCN4B):c.*2939G>C	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 302590	NM_174934.4(SCN4B):c.*2918A>G	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302591	NM_174934.4(SCN4B):c.*2879T>C	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302592	NM_174934.4(SCN4B):c.*2876T>C	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 302593	NM_174934.4(SCN4B):c.*2785C>T	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302594	NM_174934.4(SCN4B):c.*2623A>G	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302595	NM_174934.4(SCN4B):c.*2591G>T	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 302596	NM_174934.4(SCN4B):c.*2497G>A	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 302597	NM_174934.4(SCN4B):c.*2496C>T	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302598	NM_174934.4(SCN4B):c.*2487G>C	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 302599	NM_174934.4(SCN4B):c.*2324A>T	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 302600	NM_174934.4(SCN4B):c.*2268C>T	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 302601	NM_174934.4(SCN4B):c.*2220G>T	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 302602	NM_174934.4(SCN4B):c.*2196G>A	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 302603	NM_174934.4(SCN4B):c.*2137C>G	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 302604	NM_174934.4(SCN4B):c.*2120A>C	SCN4B	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302605	NM_174934.4(SCN4B):c.*2080G>T	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 302606	NM_174934.4(SCN4B):c.*1993del	SCN4B	Deletion (3 prime UTR variant +1 more)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 302607	NM_174934.4(SCN4B):c.*1962C>T	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302608	NM_174934.4(SCN4B):c.*1842G>C	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302609	NM_174934.4(SCN4B):c.*1820G>A	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 302610	NM_174934.4(SCN4B):c.*1819C>T	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 302611	NM_174934.4(SCN4B):c.*1810C>T	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 302612	NM_174934.4(SCN4B):c.*1430G>A	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 302613	NM_174934.4(SCN4B):c.*1410C>T	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 302614	NM_174934.4(SCN4B):c.*1343C>T	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 302615	NM_174934.4(SCN4B):c.*1334G>A	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302616	NM_174934.4(SCN4B):c.*1193T>C	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 302617	NM_174934.4(SCN4B):c.*1164G>A	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302618	NM_174934.4(SCN4B):c.*1071T>C	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302619	NM_174934.4(SCN4B):c.*1053T>C	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302620	NM_174934.4(SCN4B):c.*1007G>A	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 2642411	NM_174934.4(SCN4B):c.987_989dup	SCN4B	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 302622	NM_174934.4(SCN4B):c.*989dup	SCN4B	Duplication (3 prime UTR variant +1 more)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 302621	NM_174934.4(SCN4B):c.*990del	SCN4B	Deletion (3 prime UTR variant +1 more)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 302623	NM_174934.4(SCN4B):c.988_989insA	SCN4B	Insertion (3 prime UTR variant +1 more)	Congenital long QT syndrome +1 more	GLikely benign
Select item 302624	NM_174934.4(SCN4B):c.*987C>G	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302626	NM_174934.4(SCN4B):c.*986C>G	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302625	NM_174934.4(SCN4B):c.*986C>T	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 302627	NM_174934.4(SCN4B):c.*979C>A	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302628	NM_174934.4(SCN4B):c.*961A>G	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 302629	NM_174934.4(SCN4B):c.924_934dup	SCN4B	Duplication (3 prime UTR variant +1 more)	Congenital long QT syndrome +1 more	GLikely benign
Select item 302630	NM_174934.4(SCN4B):c.*905C>G	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302631	NM_174934.4(SCN4B):c.*889G>A	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302632	NM_174934.4(SCN4B):c.*868C>A	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 302634	NM_174934.4(SCN4B):c.*812A>C	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 302633	NM_174934.4(SCN4B):c.*812A>G	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302635	NM_174934.4(SCN4B):c.*785G>A	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302636	NM_174934.4(SCN4B):c.*680C>A	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 302637	NM_174934.4(SCN4B):c.*670G>T	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 302638	NM_174934.4(SCN4B):c.*524dup	SCN4B	Duplication (3 prime UTR variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302639	NM_174934.4(SCN4B):c.*489T>C	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 302640	NM_174934.4(SCN4B):c.*471A>T	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GLikely benign
Select item 302641	NM_174934.4(SCN4B):c.*449G>A	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 302642	NM_174934.4(SCN4B):c.*434T>C	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 302643	NM_174934.4(SCN4B):c.*362G>T	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome +1 more	GBenign/Likely benign
Select item 1182110	NM_174934.4(SCN4B):c.*328G>A	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 302644	NM_174934.4(SCN4B):c.*258T>A	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital long QT syndrome	GUncertain significance
Select item 1292198	NM_174934.4(SCN4B):c.*208A>C	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1247383	NM_174934.4(SCN4B):c.*158C>T	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1265488	NM_174934.4(SCN4B):c.*125C>T	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1227368	NM_174934.4(SCN4B):c.*10C>T	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 929095	NM_174934.4(SCN4B):c.*7C>T	SCN4B	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1755885	NM_174934.4(SCN4B):c.686G>C (p.Ter229Ser)	SCN4B	Single nucleotide variant (stop lost +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1212250	NM_174934.4(SCN4B):c.679A>G (p.Lys227Glu)	SCN4B (K117E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2824632	NM_174934.4(SCN4B):c.676del (p.Ser226fs)	SCN4B (S116fs +2 more)	Deletion (frameshift variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 1755180	NM_174934.4(SCN4B):c.673C>G (p.Pro225Ala)	SCN4B (P115A +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2829978	NM_174934.4(SCN4B):c.661G>C (p.Glu221Gln)	SCN4B (E87Q +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 1524046	NM_174934.4(SCN4B):c.658G>A (p.Ala220Thr)	SCN4B (A110T +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 2753946	NM_174934.4(SCN4B):c.652T>G (p.Ser218Ala)	SCN4B (S218A +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 1176917	NM_174934.4(SCN4B):c.649G>T (p.Gly217Cys)	SCN4B (G107C +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 524166	NM_174934.4(SCN4B):c.644_648del (p.Leu215fs)	SCN4B (L81fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2882194	NM_174934.4(SCN4B):c.647C>G (p.Pro216Arg)	SCN4B (P106R +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 388207	NM_174934.4(SCN4B):c.647C>T (p.Pro216Leu)	SCN4B (P216L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1753428	NM_174934.4(SCN4B):c.641G>T (p.Gly214Val)	SCN4B (G80V +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 702477	NM_174934.4(SCN4B):c.640G>A (p.Gly214Ser)	SCN4B (G80S +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10 +1 more	GLikely benign
Select item 139036	NM_174934.4(SCN4B):c.639C>T (p.Asn213=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GBenign
Select item 1913010	NM_174934.4(SCN4B):c.636_637dup (p.Asn213fs)	SCN4B (N103fs +2 more)	Microsatellite (frameshift variant +1 more)	Long QT syndrome 10 +1 more	GUncertain significance
Select item 1752952	NM_174934.4(SCN4B):c.633G>C (p.Thr211=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 778702	NM_174934.4(SCN4B):c.633G>A (p.Thr211=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1214344	NM_174934.4(SCN4B):c.632C>T (p.Thr211Met)	SCN4B (T101M +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10 +1 more	GUncertain significance
Select item 190895	NM_174934.4(SCN4B):c.632C>G (p.Thr211Arg)	SCN4B (T211R +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1627813	NM_174934.4(SCN4B):c.630C>T (p.Asn210=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign

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