8884[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 58840	GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3	ABHD1, ADGRF3 +99 more	Copy number gain	See cases	GUncertain significance
Select item 2357705	NM_021095.4(SLC5A6):c.1887C>G (p.Ile629Met)	SLC5A6 (I629M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284798	NM_021095.4(SLC5A6):c.1880C>A (p.Thr627Asn)	SLC5A6 (T627N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1341577	NM_021095.4(SLC5A6):c.1865_1866del (p.Gln622fs)	SLC5A6 (Q622fs)	Deletion (frameshift variant +1 more)	Peripheral motor neuropathy, childhood-onset, biotin-responsive +2 more	GLikely pathogenic
Select item 3369907	NM_021095.4(SLC5A6):c.1763A>G (p.Gln588Arg)	SLC5A6 (Q588R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3165272	NM_021095.4(SLC5A6):c.1738C>T (p.Arg580Trp)	SLC5A6 (R580W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 787001	NM_021095.4(SLC5A6):c.1722G>A (p.Pro574=)	SLC5A6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3165271	NM_021095.4(SLC5A6):c.1720C>T (p.Pro574Ser)	SLC5A6 (P574S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246663	NM_021095.4(SLC5A6):c.1674C>A (p.Asn558Lys)	SLC5A6 (N558K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 713562	NM_021095.4(SLC5A6):c.1658G>A (p.Arg553Gln)	SLC5A6 (R553Q)	Single nucleotide variant (missense variant +1 more)	Neurodegeneration, infantile-onset, biotin-responsive +1 more	GLikely benign
Select item 3165270	NM_021095.4(SLC5A6):c.1643T>C (p.Leu548Pro)	SLC5A6 (L548P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165269	NM_021095.4(SLC5A6):c.1639C>G (p.Leu547Val)	SLC5A6 (L547V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2533500	NM_021095.4(SLC5A6):c.1618G>T (p.Val540Leu)	SLC5A6 (V540L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3320058	NM_021095.4(SLC5A6):c.1561C>T (p.Arg521Trp)	SLC5A6 (R521W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3165268	NM_021095.4(SLC5A6):c.1541C>T (p.Ser514Phe)	SLC5A6 (S514F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165267	NM_021095.4(SLC5A6):c.1501G>A (p.Val501Ile)	SLC5A6 (V501I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 788951	NM_021095.4(SLC5A6):c.1475G>A (p.Ser492Asn)	SLC5A6 (S492N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2390909	NM_021095.4(SLC5A6):c.1460C>T (p.Pro487Leu)	SLC5A6 (P487L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 750724	NM_021095.4(SLC5A6):c.1455C>G (p.Pro485=)	SLC5A6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1256723	NM_021095.4(SLC5A6):c.1442C>T (p.Ser481Phe)	SLC5A6 (S481F)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3165266	NM_021095.4(SLC5A6):c.1439G>A (p.Gly480Asp)	SLC5A6 (G480D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591910	NM_021095.4(SLC5A6):c.1432A>C (p.Ser478Arg)	SLC5A6 (S478R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225835	NM_021095.4(SLC5A6):c.1426G>A (p.Val476Met)	SLC5A6 (V476M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 716281	NM_021095.4(SLC5A6):c.1425C>T (p.Ile475=)	SLC5A6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3165265	NM_021095.4(SLC5A6):c.1414A>G (p.Ile472Val)	SLC5A6 (I472V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165264	NM_021095.4(SLC5A6):c.1414A>C (p.Ile472Leu)	SLC5A6 (I472L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2627917	NM_021095.4(SLC5A6):c.1403del (p.Phe468fs)	SLC5A6 (F468fs)	Deletion (frameshift variant +1 more)	Neurodegeneration, infantile-onset, biotin-responsive	GLikely pathogenic
Select item 3351305	NM_021095.4(SLC5A6):c.1393G>A (p.Val465Ile)	SLC5A6 (V465I)	Single nucleotide variant (missense variant +1 more)	SLC5A6-related disorder	GLikely benign
Select item 3165263	NM_021095.4(SLC5A6):c.1393G>T (p.Val465Phe)	SLC5A6 (V465F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3051464	NM_021095.4(SLC5A6):c.1392C>T (p.Leu464=)	SLC5A6	Single nucleotide variant (synonymous variant +1 more)	SLC5A6-related disorder	GLikely benign
Select item 3444905	NM_021095.4(SLC5A6):c.1376G>A (p.Gly459Asp)	SLC5A6 (G459D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619381	NM_021095.4(SLC5A6):c.1372G>A (p.Val458Met)	SLC5A6 (V458M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1316087	NM_021095.4(SLC5A6):c.1310C>T (p.Pro437Leu)	SLC5A6 (P437L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 989311	NM_021095.4(SLC5A6):c.1307G>A (p.Gly436Glu)	SLC5A6 (G436E)	Single nucleotide variant (missense variant +1 more)	SLC5A6-related disorder	GUncertain significance
Select item 1341352	NM_021095.4(SLC5A6):c.1285A>G (p.Ser429Gly)	SLC5A6 (S429G)	Single nucleotide variant (missense variant +1 more)	Neurodegeneration, infantile-onset, biotin-responsive +1 more	GPathogenic/Likely pathogenic
Select item 1704719	NM_021095.4(SLC5A6):c.1282A>G (p.Ile428Val)	SLC5A6 (I428V)	Single nucleotide variant (missense variant +1 more)	Neurodegeneration, infantile-onset, biotin-responsive +2 more	GConflicting classifications of pathogenicity
Select item 3444904	NM_021095.4(SLC5A6):c.1257G>C (p.Gln419His)	SLC5A6 (Q419H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248192	NM_021095.4(SLC5A6):c.1244A>G (p.Tyr415Cys)	SLC5A6 (Y415C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1704909	NM_021095.4(SLC5A6):c.1226T>C (p.Leu409Pro)	SLC5A6 (L409P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 975022	NM_021095.4(SLC5A6):c.1199G>C (p.Arg400Thr)	SLC5A6	Single nucleotide variant (missense variant +1 more)	Neurodegeneration, infantile-onset, biotin-responsive	GPathogenic
Select item 753002	NM_021095.4(SLC5A6):c.1182G>T (p.Arg394=)	SLC5A6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3444898	NM_021095.4(SLC5A6):c.1180C>G (p.Arg394Gly)	SLC5A6 (R394G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3388069	NM_021095.4(SLC5A6):c.1134G>A (p.Thr378=)	SLC5A6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3320059	NM_021095.4(SLC5A6):c.1084G>A (p.Gly362Ser)	SLC5A6 (G362S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1707792	NM_021095.4(SLC5A6):c.1073G>A (p.Cys358Tyr)	SLC5A6 (C358Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2386501	NM_021095.4(SLC5A6):c.1070C>T (p.Ala357Val)	SLC5A6 (A357V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1341576	NM_021095.4(SLC5A6):c.1005+1G>A	SLC5A6	Single nucleotide variant (splice donor variant)	Neurodegeneration, infantile-onset, biotin-responsive	GPathogenic
Select item 2222351	NM_021095.4(SLC5A6):c.959A>G (p.Gln320Arg)	SLC5A6 (Q320R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2473466	NM_021095.4(SLC5A6):c.950C>T (p.Ala317Val)	SLC5A6 (A317V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548818	NM_021095.4(SLC5A6):c.949G>A (p.Ala317Thr)	SLC5A6 (A317T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3165277	NM_021095.4(SLC5A6):c.925T>C (p.Cys309Arg)	SLC5A6 (C309R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3320060	NM_021095.4(SLC5A6):c.919G>A (p.Val307Met)	SLC5A6 (V307M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 989312	NM_021095.4(SLC5A6):c.914T>A (p.Leu305His)	SLC5A6 (L305H)	Single nucleotide variant (missense variant +1 more)	SLC5A6-related disorder	GUncertain significance
Select item 2298082	NM_021095.4(SLC5A6):c.883T>C (p.Tyr295His)	SLC5A6 (Y295H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3444901	NM_021095.4(SLC5A6):c.857C>T (p.Thr286Met)	SLC5A6 (T286M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206683	NM_021095.4(SLC5A6):c.853C>T (p.Arg285Cys)	SLC5A6 (R285C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2073503	NM_021095.4(SLC5A6):c.829C>T (p.Gln277Ter)	SLC5A6 (Q277*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3600297	NM_021095.4(SLC5A6):c.814G>A (p.Gly272Arg)	SLC5A6 (G272R)	Single nucleotide variant (missense variant +1 more)	Neurodegeneration, infantile-onset, biotin-responsive	GLikely pathogenic
Select item 2650763	NM_021095.4(SLC5A6):c.783C>T (p.Phe261=)	SLC5A6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3165276	NM_021095.4(SLC5A6):c.740A>G (p.Asp247Gly)	SLC5A6 (D247G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261556	NM_021095.4(SLC5A6):c.718C>T (p.Arg240Cys)	SLC5A6 (R240C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 715558	NM_021095.4(SLC5A6):c.714C>T (p.His238=)	SLC5A6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2297041	NM_021095.4(SLC5A6):c.700G>A (p.Val234Met)	SLC5A6 (V234M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165275	NM_021095.4(SLC5A6):c.653T>C (p.Ile218Thr)	SLC5A6 (I218T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301426	NM_021095.4(SLC5A6):c.575C>T (p.Ala192Val)	SLC5A6 (A192V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220066	NM_021095.4(SLC5A6):c.565G>A (p.Val189Ile)	SLC5A6 (V189I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3165274	NM_021095.4(SLC5A6):c.506A>G (p.Asn169Ser)	SLC5A6 (N169S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1315902	NM_021095.4(SLC5A6):c.485A>G (p.Tyr162Cys)	SLC5A6 (Y162C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2507024	NM_021095.4(SLC5A6):c.460-19T>G	SLC5A6	Single nucleotide variant (intron variant)	Neurodegeneration, infantile-onset, biotin-responsive	GLikely pathogenic
Select item 3444902	NM_021095.4(SLC5A6):c.448A>G (p.Ile150Val)	SLC5A6 (I150V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2543868	NM_021095.4(SLC5A6):c.428T>C (p.Val143Ala)	SLC5A6 (V143A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2064630	NM_021095.4(SLC5A6):c.424C>T (p.Arg142Ter)	SLC5A6 (R142*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 975021	NM_021095.4(SLC5A6):c.422_423del (p.Val141fs)	SLC5A6 (V141fs)	Microsatellite (frameshift variant +1 more)	Neurodegeneration, infantile-onset, biotin-responsive +1 more	GPathogenic/Likely pathogenic
Select item 3341550	NM_021095.4(SLC5A6):c.396C>T (p.Tyr132=)	SLC5A6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1802141	NM_021095.4(SLC5A6):c.393+2T>C	SLC5A6	Single nucleotide variant (splice donor variant)	Neurodegeneration, infantile-onset, biotin-responsive	GPathogenic/Likely pathogenic
Select item 2219981	NM_021095.4(SLC5A6):c.373C>G (p.His125Asp)	SLC5A6 (H125D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596600	NM_021095.4(SLC5A6):c.368G>A (p.Arg123His)	SLC5A6 (R123H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 975024	NM_021095.4(SLC5A6):c.368G>T (p.Arg123Leu)	SLC5A6	Single nucleotide variant (missense variant +1 more)	Neurodegeneration, infantile-onset, biotin-responsive	GPathogenic
Select item 2430485	NM_021095.4(SLC5A6):c.367C>T (p.Arg123Cys)	SLC5A6 (R123C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2326676	NM_021095.4(SLC5A6):c.358G>A (p.Val120Ile)	SLC5A6 (V120I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 975023	NM_021095.4(SLC5A6):c.280C>T (p.Arg94Ter)	SLC5A6	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 726274	NM_021095.4(SLC5A6):c.210G>A (p.Pro70=)	SLC5A6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3444903	NM_021095.4(SLC5A6):c.209C>T (p.Pro70Leu)	SLC5A6 (P70L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382027	NM_021095.4(SLC5A6):c.191G>A (p.Arg64His)	SLC5A6 (R64H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1317298	NM_021095.4(SLC5A6):c.182T>A (p.Met61Lys)	SLC5A6 (M61K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2400536	NM_021095.4(SLC5A6):c.158G>A (p.Arg53Gln)	SLC5A6 (R53Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3444900	NM_021095.4(SLC5A6):c.146G>A (p.Arg49His)	SLC5A6 (R49H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165262	NM_021095.4(SLC5A6):c.122C>G (p.Ala41Gly)	SLC5A6 (A41G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3320062	NM_021095.4(SLC5A6):c.74C>T (p.Ser25Phe)	SLC5A6 (S25F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464402	NM_021095.4(SLC5A6):c.55G>A (p.Val19Met)	SLC5A6 (V19M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3332398	NM_001170795.4(ATRAID):c.-161A>G	ATRAID, SLC5A6	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3463718	NM_001170795.4(ATRAID):c.-155G>A	ATRAID, SLC5A6	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3132108	NM_001170795.4(ATRAID):c.-123A>C	ATRAID, LOC129933365 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3463722	NM_001170795.4(ATRAID):c.-117C>A	ATRAID, LOC129933365 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

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