6554[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 3050733	NM_003049.4(SLC10A1):c.*10T>C	SLC10A1	Single nucleotide variant (3 prime UTR variant)	SLC10A1-related disorder	GLikely benign
Select item 3054601	NM_003049.4(SLC10A1):c.*9del	SLC10A1	Deletion (3 prime UTR variant)	SLC10A1-related disorder	GLikely benign
Select item 594294	NM_003049.4(SLC10A1):c.1030T>A (p.Cys344Ser)	SLC10A1 (C344S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597414	NM_003049.4(SLC10A1):c.1024G>A (p.Glu342Lys)	SLC10A1 (E342K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2317714	NM_003049.4(SLC10A1):c.997G>A (p.Ala333Thr)	SLC10A1 (A333T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 593911	NM_003049.4(SLC10A1):c.994G>C (p.Gly332Arg)	SLC10A1 (G332R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3162750	NM_003049.4(SLC10A1):c.961T>C (p.Tyr321His)	SLC10A1 (Y321H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 500558	NM_003049.4(SLC10A1):c.957G>A (p.Met319Ile)	SLC10A1 (M319I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2493036	NM_003049.4(SLC10A1):c.956T>C (p.Met319Thr)	SLC10A1 (M319T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 597939	NM_003049.4(SLC10A1):c.936T>G (p.Thr312=)	SLC10A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 501705	NM_003049.4(SLC10A1):c.907A>G (p.Ile303Val)	SLC10A1 (I303V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2597998	NM_003049.4(SLC10A1):c.902T>C (p.Ile301Thr)	SLC10A1 (I301T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591867	NM_003049.4(SLC10A1):c.892C>T (p.Leu298Phe)	SLC10A1 (L298F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 595899	NM_003049.4(SLC10A1):c.877C>G (p.Gln293Glu)	SLC10A1 (Q293E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 502752	NM_003049.4(SLC10A1):c.870G>A (p.Met290Ile)	SLC10A1 (M290I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 595331	NM_003049.4(SLC10A1):c.869T>G (p.Met290Arg)	SLC10A1 (M290R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501711	NM_003049.4(SLC10A1):c.868A>G (p.Met290Val)	SLC10A1 (M290V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597069	NM_003049.4(SLC10A1):c.846T>C (p.Leu282=)	SLC10A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 595170	NM_003049.4(SLC10A1):c.839G>T (p.Gly280Val)	SLC10A1 (G280V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 501470	NM_003049.4(SLC10A1):c.836T>C (p.Ile279Thr)	SLC10A1 (I279T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594512	NM_003049.4(SLC10A1):c.821T>C (p.Phe274Ser)	SLC10A1 (F274S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2323632	NM_003049.4(SLC10A1):c.815T>G (p.Val272Gly)	SLC10A1 (V272G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 597593	NM_003049.4(SLC10A1):c.812A>G (p.Asn271Ser)	SLC10A1 (N271S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444366	NM_003049.4(SLC10A1):c.806T>G (p.Ile269Ser)	SLC10A1 (I269S)	Single nucleotide variant (missense variant)	Hypercholanemia, familial, 2	GUncertain significance
Select item 501461	NM_003049.4(SLC10A1):c.800C>T (p.Ser267Phe)	SLC10A1 (S267F)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3354921	NM_003049.4(SLC10A1):c.791_792dup (p.Leu265fs)	SLC10A1 (L265fs)	Duplication (frameshift variant)	SLC10A1-related disorder	GUncertain significance
Select item 598182	NM_003049.4(SLC10A1):c.778T>C (p.Cys260Arg)	SLC10A1 (C260R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597843	NM_003049.4(SLC10A1):c.767T>G (p.Met256Arg)	SLC10A1 (M256R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501945	NM_003049.4(SLC10A1):c.755G>A (p.Arg252His)	SLC10A1 (R252H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3162749	NM_003049.4(SLC10A1):c.754C>T (p.Arg252Cys)	SLC10A1 (R252C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 501707	NM_003049.4(SLC10A1):c.754C>A (p.Arg252Ser)	SLC10A1 (R252S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3029552	NM_003049.4(SLC10A1):c.747G>A (p.Arg249=)	SLC10A1	Single nucleotide variant (synonymous variant)	SLC10A1-related disorder	GLikely benign
Select item 747139	NM_003049.4(SLC10A1):c.746+7del	SLC10A1	Deletion (intron variant)	not provided	GBenign
Select item 501465	NM_003049.4(SLC10A1):c.746+5del	SLC10A1	Deletion (intron variant)	not provided	GUncertain significance
Select item 3358015	NM_003049.4(SLC10A1):c.746+2dup	SLC10A1	Duplication (splice donor variant)	SLC10A1-related disorder	GUncertain significance
Select item 598599	NM_003049.4(SLC10A1):c.746G>A (p.Arg249Gln)	SLC10A1 (R249Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731281	NM_003049.4(SLC10A1):c.745C>A (p.Arg249=)	SLC10A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 617621	NM_003049.4(SLC10A1):c.[601_611del;745C>T]	SLC10A1 (R249W +1 more)	Single nucleotide variant (missense variant +1 more)	Hepatic fibrosis +3 more	GUncertain significance
Select item 500594	NM_003049.4(SLC10A1):c.745C>T (p.Arg249Trp)	SLC10A1 (R249W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3029311	NM_003049.4(SLC10A1):c.722_723del (p.Ser241fs)	SLC10A1 (S241fs)	Microsatellite (frameshift variant)	SLC10A1-related disorder	GUncertain significance
Select item 1705419	NM_003049.4(SLC10A1):c.713_717del (p.Tyr238fs)	SLC10A1 (Y238fs)	Deletion (frameshift variant)	Hypercholanemia, familial, 2	GLikely pathogenic
Select item 3031136	NM_003049.4(SLC10A1):c.714T>C (p.Tyr238=)	SLC10A1	Single nucleotide variant (synonymous variant)	SLC10A1-related disorder	GLikely benign
Select item 501077	NM_003049.4(SLC10A1):c.702T>G (p.Phe234Leu)	SLC10A1 (F234L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3030937	NM_003049.4(SLC10A1):c.695T>C (p.Ile232Thr)	SLC10A1 (I232T)	Single nucleotide variant (missense variant)	SLC10A1-related disorder	GLikely benign
Select item 3358124	NM_003049.4(SLC10A1):c.682dup (p.Leu228fs)	SLC10A1 (L228fs)	Duplication (frameshift variant)	SLC10A1-related disorder	GLikely pathogenic
Select item 781133	NM_003049.4(SLC10A1):c.668T>C (p.Ile223Thr)	SLC10A1 (I223T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3318780	NM_003049.4(SLC10A1):c.666G>C (p.Leu222Phe)	SLC10A1 (L222F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 502734	NM_003049.4(SLC10A1):c.664_665del (p.Leu222fs)	SLC10A1 (L222fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2629276	NM_003049.4(SLC10A1):c.643dup (p.Met215fs)	SLC10A1 (M215fs)	Duplication (frameshift variant)	SLC10A1-related disorder	GUncertain significance
Select item 3058870	NM_003049.4(SLC10A1):c.642C>T (p.Ile214=)	SLC10A1	Single nucleotide variant (synonymous variant)	SLC10A1-related disorder	GLikely benign
Select item 3353227	NM_003049.4(SLC10A1):c.639C>G (p.Ser213Arg)	SLC10A1 (S213R)	Single nucleotide variant (missense variant)	SLC10A1-related disorder	GUncertain significance
Select item 500563	NM_003049.4(SLC10A1):c.630G>A (p.Val210=)	SLC10A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 784288	NM_003049.4(SLC10A1):c.627T>C (p.Asn209=)	SLC10A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2288844	NM_003049.4(SLC10A1):c.619G>A (p.Ala207Thr)	SLC10A1 (A207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3357645	NM_003049.4(SLC10A1):c.617_618del (p.Ser206fs)	SLC10A1 (S206fs)	Microsatellite (frameshift variant)	SLC10A1-related disorder	GLikely pathogenic
Select item 3047134	NM_003049.4(SLC10A1):c.618T>C (p.Ser206=)	SLC10A1	Single nucleotide variant (synonymous variant)	SLC10A1-related disorder	GLikely benign
Select item 2634668	NM_003049.4(SLC10A1):c.615_618del (p.Ser206fs)	SLC10A1 (S206fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 617633	NM_003049.4(SLC10A1):c.601_611del (p.Ala201fs)	SLC10A1 (A201fs)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 594286	NM_003049.4(SLC10A1):c.608_609del (p.Thr203fs)	SLC10A1 (T203fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2510285	NM_003049.4(SLC10A1):c.607A>C (p.Thr203Pro)	SLC10A1 (T203P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 598171	NM_003049.4(SLC10A1):c.604G>A (p.Val202Ile)	SLC10A1 (V202I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435962	NM_003049.4(SLC10A1):c.603C>T (p.Ala201=)	SLC10A1	Single nucleotide variant (synonymous variant)	Hypercholanemia, familial, 2	GUncertain significance
Select item 2510331	NM_003049.4(SLC10A1):c.599T>C (p.Val200Ala)	SLC10A1 (V200A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 593564	NM_003049.4(SLC10A1):c.599T>A (p.Val200Glu)	SLC10A1 (V200E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2629016	NM_003049.4(SLC10A1):c.598G>A (p.Val200Met)	SLC10A1 (V200M)	Single nucleotide variant (missense variant)	SLC10A1-related disorder	GLikely benign
Select item 500648	NM_003049.4(SLC10A1):c.589T>C (p.Leu197=)	SLC10A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 596344	NM_003049.4(SLC10A1):c.587T>C (p.Leu196Pro)	SLC10A1 (L196P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593428	NM_003049.4(SLC10A1):c.583A>C (p.Ile195Leu)	SLC10A1 (I195L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3380219	NM_003049.4(SLC10A1):c.575T>C (p.Met192Thr)	SLC10A1 (M192T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500856	NM_003049.4(SLC10A1):c.575T>G (p.Met192Arg)	SLC10A1 (M192R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596943	NM_003049.4(SLC10A1):c.573G>C (p.Gly191=)	SLC10A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3162748	NM_003049.4(SLC10A1):c.568G>A (p.Gly190Arg)	SLC10A1 (G190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634275	NM_003049.4(SLC10A1):c.568-1G>A	SLC10A1	Single nucleotide variant (splice acceptor variant)	SLC10A1-related disorder	GUncertain significance
Select item 594061	NM_003049.4(SLC10A1):c.559G>C (p.Val187Leu)	SLC10A1 (V187L)	Single nucleotide variant (missense variant)	Hypercholanemia, familial, 2 +2 more	GUncertain significance
Select item 2258867	NM_003049.4(SLC10A1):c.557A>T (p.Tyr186Phe)	SLC10A1 (Y186F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 598098	NM_003049.4(SLC10A1):c.553C>T (p.Arg185Cys)	SLC10A1 (R185C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597704	NM_003049.4(SLC10A1):c.541C>A (p.Pro181Thr)	SLC10A1 (P181T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3352996	NM_003049.4(SLC10A1):c.528C>G (p.Leu176=)	SLC10A1	Single nucleotide variant (synonymous variant)	SLC10A1-related disorder	GLikely benign
Select item 2395200	NM_003049.4(SLC10A1):c.523G>A (p.Val175Ile)	SLC10A1 (V175I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 502770	NM_003049.4(SLC10A1):c.518G>C (p.Gly173Ala)	SLC10A1 (G173A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502018	NM_003049.4(SLC10A1):c.517G>C (p.Gly173Arg)	SLC10A1 (G173R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597153	NM_003049.4(SLC10A1):c.515T>C (p.Ile172Thr)	SLC10A1 (I172T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 597926	NM_003049.4(SLC10A1):c.512C>T (p.Thr171Ile)	SLC10A1 (T171I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597846	NM_003049.4(SLC10A1):c.506C>T (p.Pro169Leu)	SLC10A1 (P169L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595386	NM_003049.4(SLC10A1):c.503T>C (p.Ile168Thr)	SLC10A1 (I168T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501327	NM_003049.4(SLC10A1):c.481A>T (p.Ile161Leu)	SLC10A1 (I161L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2467283	NM_003049.4(SLC10A1):c.478G>A (p.Val160Met)	SLC10A1 (V160M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3355991	NM_003049.4(SLC10A1):c.474C>A (p.Gly158=)	SLC10A1	Single nucleotide variant (synonymous variant)	SLC10A1-related disorder	GLikely benign
Select item 597978	NM_003049.4(SLC10A1):c.473G>A (p.Gly158Asp)	SLC10A1 (G158D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595141	NM_003049.4(SLC10A1):c.472G>A (p.Gly158Ser)	SLC10A1 (G158S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593674	NM_003049.4(SLC10A1):c.453G>A (p.Lys151=)	SLC10A1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3029742	NM_003049.4(SLC10A1):c.447C>T (p.Asp149=)	SLC10A1	Single nucleotide variant (synonymous variant)	SLC10A1-related disorder	GLikely benign
Select item 501359	NM_003049.4(SLC10A1):c.437A>G (p.Tyr146Cys)	SLC10A1 (Y146C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597591	NM_003049.4(SLC10A1):c.432G>A (p.Gly144=)	SLC10A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3031504	NM_003049.4(SLC10A1):c.418A>G (p.Ile140Val)	SLC10A1 (I140V)	Single nucleotide variant (missense variant)	SLC10A1-related disorder	GUncertain significance
Select item 2635476	NM_003049.4(SLC10A1):c.397_403del (p.Met133fs)	SLC10A1 (M133fs)	Deletion (frameshift variant)	SLC10A1-related disorder	GLikely pathogenic
Select item 593998	NM_003049.4(SLC10A1):c.393T>G (p.Leu131=)	SLC10A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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