SLC36A1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 2385	NM_181776.3(SLC36A2):c.164+1G>A	SLC36A1, SLC36A2	Single nucleotide variant (splice donor variant)	Hyperglycinuria +1 more	GAffects
Select item 2791488	NM_181776.3(SLC36A2):c.160A>G (p.Ile54Val)	SLC36A1, SLC36A2 (I54V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1287839	NM_181776.3(SLC36A2):c.153C>T (p.Thr51=)	SLC36A2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2052777	NM_181776.3(SLC36A2):c.146AGA[1] (p.Lys50del)	SLC36A1, SLC36A2 (K50del)	Microsatellite (inframe_deletion)	SLC36A2-related condition +1 more	GLikely benign
Select item 788292	NM_181776.3(SLC36A2):c.147G>A (p.Lys49=)	SLC36A1, SLC36A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2713208	NM_181776.3(SLC36A2):c.138A>C (p.Ala46=)	SLC36A1, SLC36A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788487	NM_181776.3(SLC36A2):c.80C>T (p.Ala27Val)	SLC36A1, SLC36A2 (A27V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 789584	NM_181776.3(SLC36A2):c.76A>G (p.Ser26Gly)	SLC36A1, SLC36A2 (S26G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2002810	NM_181776.3(SLC36A2):c.62T>C (p.Met21Thr)	SLC36A1, SLC36A2 (M21T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871450	NM_181776.3(SLC36A2):c.34G>C (p.Gly12Arg)	SLC36A1, SLC36A2 (G12R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2608064	NM_078483.4(SLC36A1):c.70A>T (p.Ser24Cys)	SLC36A1 (S24C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311245	NM_078483.4(SLC36A1):c.130A>C (p.Ser44Arg)	SLC36A1 (S44R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300283	NM_078483.4(SLC36A1):c.232G>T (p.Val78Leu)	SLC36A1 (R30L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2593003	NM_078483.4(SLC36A1):c.397C>T (p.Arg133Trp)	SLC36A1 (R133W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318708	NM_078483.4(SLC36A1):c.398G>A (p.Arg133Gln)	SLC36A1 (R133Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274098	NM_078483.4(SLC36A1):c.421C>G (p.Arg141Gly)	SLC36A1 (R141G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 709820	NM_078483.4(SLC36A1):c.421C>T (p.Arg141Cys)	SLC36A1 (R113C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2488548	NM_078483.4(SLC36A1):c.448A>G (p.Thr150Ala)	SLC36A1 (T150A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217977	NM_078483.4(SLC36A1):c.554C>T (p.Thr185Met)	SLC36A1 (T185M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473506	NM_078483.4(SLC36A1):c.655A>G (p.Ile219Val)	SLC36A1 (I191V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2235550	NM_078483.4(SLC36A1):c.707A>G (p.Tyr236Cys)	SLC36A1 (Y236C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542633	NM_078483.4(SLC36A1):c.905T>C (p.Leu302Pro)	SLC36A1 (L274P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716863	NM_078483.4(SLC36A1):c.990-6C>T	SLC36A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2536913	NM_078483.4(SLC36A1):c.1053C>G (p.Phe351Leu)	SLC36A1 (F323L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776081	NM_078483.4(SLC36A1):c.1086T>G (p.Phe362Leu)	SLC36A1 (F362L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 747014	NM_078483.4(SLC36A1):c.1086T>C (p.Phe362=)	SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2521430	NM_078483.4(SLC36A1):c.1106A>G (p.His369Arg)	SLC36A1 (H369R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591203	NM_078483.4(SLC36A1):c.1237C>T (p.Leu413Phe)	SLC36A1 (L413F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356249	NM_078483.4(SLC36A1):c.1358A>G (p.Tyr453Cys)	SLC36A1 (Y425C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496427	NM_078483.4(SLC36A1):c.1382A>G (p.Gln461Arg)	SLC36A1 (Q433R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595077	NM_001447.3(FAT2):c.13042A>G (p.Met4348Val)	FAT2, SLC36A1 (M4348V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 740184	NM_001447.3(FAT2):c.13031G>A (p.Cys4344Tyr)	FAT2, SLC36A1 (C4344Y)	Single nucleotide variant (missense variant)	FAT2-related condition +1 more	GLikely benign
Select item 2302136	NM_001447.3(FAT2):c.13003G>A (p.Asp4335Asn)	SLC36A1, FAT2 (D4335N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1910862	NM_001447.3(FAT2):c.12995A>G (p.Glu4332Gly)	FAT2, SLC36A1 (E4332G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967870	NM_001447.3(FAT2):c.12989A>G (p.Asn4330Ser)	FAT2, SLC36A1 (N4330S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082813	NM_001447.3(FAT2):c.12969C>G (p.Gly4323=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2260185	NM_001447.3(FAT2):c.12958G>A (p.Ala4320Thr)	SLC36A1, FAT2 (A4320T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2610076	NM_001447.3(FAT2):c.12941T>A (p.Val4314Glu)	FAT2, SLC36A1 (V4314E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1878247	NM_001447.3(FAT2):c.12933_12936del (p.Cys4312fs)	FAT2, SLC36A1 (C4312fs)	Microsatellite (frameshift variant)	not specified	GUncertain significance
Select item 2022917	NM_001447.3(FAT2):c.12913G>A (p.Ala4305Thr)	FAT2, SLC36A1 (A4305T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1989286	NM_001447.3(FAT2):c.12911G>A (p.Arg4304Gln)	FAT2, SLC36A1 (R4304Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960524	NM_001447.3(FAT2):c.12910C>T (p.Arg4304Ter)	FAT2, SLC36A1 (R4304*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2170951	NM_001447.3(FAT2):c.12902G>A (p.Arg4301His)	FAT2, SLC36A1 (R4301H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984750	NM_001447.3(FAT2):c.12901C>G (p.Arg4301Gly)	FAT2, SLC36A1 (R4301G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298317	NM_001447.3(FAT2):c.12899T>C (p.Met4300Thr)	FAT2, SLC36A1 (M4300T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45	GUncertain significance
Select item 1914014	NM_001447.3(FAT2):c.12881G>T (p.Gly4294Val)	FAT2, SLC36A1 (G4294V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2899925	NM_001447.3(FAT2):c.12877G>A (p.Gly4293Arg)	SLC36A1, FAT2 (G4293R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2464052	NM_001447.3(FAT2):c.12866G>A (p.Cys4289Tyr)	FAT2, SLC36A1 (C4289Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1905943	NM_001447.3(FAT2):c.12861_12862delinsAA (p.Pro4288Thr)	FAT2, SLC36A1 (P4288T)	Indel (missense variant)	not provided	GUncertain significance
Select item 2550060	NM_001447.3(FAT2):c.12854G>T (p.Gly4285Val)	FAT2, SLC36A1 (G4285V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2171994	NM_001447.3(FAT2):c.12854G>C (p.Gly4285Ala)	FAT2, SLC36A1 (G4285A)	Single nucleotide variant (missense variant)	FAT2-related condition +1 more	GLikely benign
Select item 2655947	NM_001447.3(FAT2):c.12853G>C (p.Gly4285Arg)	FAT2, SLC36A1 (G4285R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2776554	NM_001447.3(FAT2):c.12846G>A (p.Arg4282=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710874	NM_001447.3(FAT2):c.12844C>T (p.Arg4282Trp)	FAT2, SLC36A1 (R4282W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950808	NM_001447.3(FAT2):c.12816G>A (p.Thr4272=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2139151	NM_001447.3(FAT2):c.12807T>C (p.Asn4269=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918455	NM_001447.3(FAT2):c.12799del (p.Cys4267fs)	FAT2, SLC36A1 (C4267fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1050031	NM_001447.3(FAT2):c.12798_12799del (p.Cys4267fs)	FAT2, SLC36A1 (C4267fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2340806	NM_001447.3(FAT2):c.12790G>A (p.Val4264Ile)	FAT2, SLC36A1 (V4264I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2106632	NM_001447.3(FAT2):c.12784C>T (p.Arg4262Cys)	FAT2, SLC36A1 (R4262C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2241812	NM_001447.3(FAT2):c.12779G>A (p.Arg4260Gln)	SLC36A1, FAT2 (R4260Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2083340	NM_001447.3(FAT2):c.12777C>G (p.Pro4259=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2199688	NM_001447.3(FAT2):c.12764G>A (p.Arg4255Gln)	FAT2, SLC36A1 (R4255Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1049808	NM_001447.3(FAT2):c.12763C>T (p.Arg4255Trp)	SLC36A1, FAT2 (R4255W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872455	NM_001447.3(FAT2):c.12751C>G (p.Leu4251Val)	FAT2, SLC36A1 (L4251V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058596	NM_001447.3(FAT2):c.12725G>A (p.Arg4242His)	FAT2, SLC36A1 (R4242H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2984695	NM_001447.3(FAT2):c.12724C>T (p.Arg4242Cys)	FAT2, SLC36A1 (R4242C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984157	NM_001447.3(FAT2):c.12682T>C (p.Phe4228Leu)	FAT2, SLC36A1 (F4228L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3002991	NM_001447.3(FAT2):c.12666C>T (p.Leu4222=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911179	NM_001447.3(FAT2):c.12662G>C (p.Gly4221Ala)	FAT2, SLC36A1 (G4221A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2262919	NM_001447.3(FAT2):c.12647T>C (p.Met4216Thr)	SLC36A1, FAT2 (M4216T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404813	NM_001447.3(FAT2):c.12626G>A (p.Arg4209His)	FAT2, SLC36A1 (R4209H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2046552	NM_001447.3(FAT2):c.12625C>T (p.Arg4209Cys)	SLC36A1, FAT2 (R4209C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908561	NM_001447.3(FAT2):c.12618G>A (p.Ser4206=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055519	NM_001447.3(FAT2):c.12612G>A (p.Pro4204=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003386	NM_001447.3(FAT2):c.12589G>A (p.Glu4197Lys)	FAT2, SLC36A1 (E4197K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066790	NM_001447.3(FAT2):c.12564C>T (p.Asn4188=)	SLC36A1, FAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637550	NM_001447.3(FAT2):c.12538G>C (p.Val4180Leu)	FAT2, SLC36A1 (V4180L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2974949	NM_001447.3(FAT2):c.12536T>C (p.Met4179Thr)	FAT2, SLC36A1 (M4179T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2758888	NM_001447.3(FAT2):c.12518-2A>T	FAT2, SLC36A1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1267713	NM_001447.3(FAT2):c.12518-20_12518-17dup	FAT2, SLC36A1	Duplication (intron variant)	not provided	GBenign
Select item 1259204	NM_001447.3(FAT2):c.12518-36dup	FAT2, SLC36A1	Duplication (intron variant)	not provided	GBenign
Select item 1241153	NM_001447.3(FAT2):c.12518-130C>A	FAT2, SLC36A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294708	NM_001447.3(FAT2):c.12517+99C>T	FAT2, SLC36A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1991726	NM_001447.3(FAT2):c.12517+19G>A	FAT2, SLC36A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899134	NM_001447.3(FAT2):c.12517+18C>T	FAT2, SLC36A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2181650	NM_001447.3(FAT2):c.12515T>C (p.Met4172Thr)	FAT2, SLC36A1 (M4172T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1220679	NM_001447.3(FAT2):c.12507C>T (p.Ser4169=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia 45 +2 more	GBenign
Select item 1962925	NM_001447.3(FAT2):c.12491A>G (p.Lys4164Arg)	FAT2, SLC36A1 (K4164R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3042793	NM_001447.3(FAT2):c.12468C>T (p.His4156=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	FAT2-related condition	GLikely benign
Select item 2477887	NM_001447.3(FAT2):c.12466C>T (p.His4156Tyr)	FAT2, SLC36A1 (H4156Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717680	NM_001447.3(FAT2):c.12464C>G (p.Ser4155Cys)	FAT2, SLC36A1 (S4155C)	Single nucleotide variant (missense variant)	FAT2-related condition +1 more	GBenign/Likely benign
Select item 1898871	NM_001447.3(FAT2):c.12460C>A (p.Pro4154Thr)	FAT2, SLC36A1 (P4154T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1910389	NM_001447.3(FAT2):c.12448C>A (p.Pro4150Thr)	FAT2, SLC36A1 (P4150T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712768	NM_001447.3(FAT2):c.12440G>C (p.Arg4147Thr)	FAT2, SLC36A1 (R4147T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975416	NM_001447.3(FAT2):c.12438C>G (p.Pro4146=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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