"GeneDx"[submitter] AND "SLC36A1"[gene] - ClinVar

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Search results

Items: 56

	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 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 1287839	NM_181776.3(SLC36A2):c.153C>T (p.Thr51=)	SLC36A1, SLC36A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788292	NM_181776.3(SLC36A2):c.147G>A (p.Lys49=)	SLC36A1, SLC36A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1220679	NM_001447.3(FAT2):c.12507C>T (p.Ser4169=)	SLC36A1, FAT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1249251	NM_001447.3(FAT2):c.12350C>T (p.Pro4117Leu)	FAT2, SLC36A1 (P4117L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45 +1 more	GBenign
Select item 1179768	NM_001447.3(FAT2):c.12060-13_12060-12insCTT	FAT2, SLC36A1	Insertion (intron variant)	not provided	GBenign
Select item 1221831	NM_001447.3(FAT2):c.12060-28T>C	FAT2, SLC36A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256882	NM_001447.3(FAT2):c.12060-112C>T	FAT2, SLC36A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294722	NM_001447.3(FAT2):c.11906-70T>A	FAT2, SLC36A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294713	NM_001447.3(FAT2):c.11905+182T>C	FAT2, SLC36A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290235	NM_001447.3(FAT2):c.11905+138dup	FAT2, SLC36A1	Duplication (intron variant)	not provided	GBenign
Select item 1249375	NM_001447.3(FAT2):c.11905+63A>G	FAT2, SLC36A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227963	NM_001447.3(FAT2):c.11898T>C (p.His3966=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1282667	NM_001447.3(FAT2):c.11317+50C>T	FAT2, SLC36A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226257	NM_001447.3(FAT2):c.11043T>C (p.Asp3681=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia 45 +1 more	GBenign
Select item 1285257	NM_001447.3(FAT2):c.10893G>A (p.Met3631Ile)	FAT2, SLC36A1 (M3631I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1225536	NM_001447.3(FAT2):c.10854C>T (p.Tyr3618=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia 45 +1 more	GBenign
Select item 1251356	NM_001447.3(FAT2):c.10557C>G (p.Val3519=)	FAT2, LOC132089193 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1232448	NM_001447.3(FAT2):c.10541T>C (p.Leu3514Ser)	FAT2, LOC132089193 +1 more (L3514S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1265696	NM_001447.3(FAT2):c.10524C>A (p.Ile3508=)	FAT2, LOC132089193 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1277460	NM_001447.3(FAT2):c.10507-52G>A	FAT2, LOC132089193 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1294711	NM_001447.3(FAT2):c.10507-151dup	FAT2, SLC36A1	Duplication (intron variant)	not provided	GBenign
Select item 1262991	NM_001447.3(FAT2):c.10506+52T>G	FAT2, SLC36A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273158	NM_001447.3(FAT2):c.10437G>A (p.Pro3479=)	SLC36A1, FAT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1252863	NM_001447.3(FAT2):c.10350G>A (p.Leu3450=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia 45 +1 more	GBenign
Select item 1278864	NM_001447.3(FAT2):c.10308+206C>T	FAT2, SLC36A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226261	NM_001447.3(FAT2):c.10308+74T>C	FAT2, SLC36A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258148	NM_001447.3(FAT2):c.10165-25A>C	FAT2, SLC36A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231477	NM_001447.3(FAT2):c.10027-47G>A	FAT2, SLC36A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238095	NM_001447.3(FAT2):c.10027-125A>G	FAT2, SLC36A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180422	NM_001447.3(FAT2):c.10026+80A>G	FAT2, SLC36A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238394	NM_001447.3(FAT2):c.9953G>A (p.Arg3318Gln)	FAT2, SLC36A1 (R3318Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1269345	NM_001447.3(FAT2):c.9952C>T (p.Arg3318Trp)	FAT2, SLC36A1 (R3318W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1222601	NM_001447.3(FAT2):c.9812-186del	FAT2, SLC36A1	Deletion (intron variant)	not provided	GBenign
Select item 1294698	NM_001447.3(FAT2):c.9811+224C>A	FAT2, LOC132089194 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258753	NM_001447.3(FAT2):c.9811+206A>G	FAT2, LOC132089194 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178412	NM_001447.3(FAT2):c.9213T>A (p.Thr3071=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia 45 +1 more	GBenign
Select item 1239517	NM_001447.3(FAT2):c.9194-66T>C	FAT2, SLC36A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275399	NM_001447.3(FAT2):c.9194-241A>G	FAT2, SLC36A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235022	NM_001447.3(FAT2):c.9193+215A>G	FAT2, SLC36A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294699	NM_001447.3(FAT2):c.9040-38C>T	FAT2, SLC36A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281368	NM_001447.3(FAT2):c.9039+20T>C	FAT2, SLC36A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223278	NM_001447.3(FAT2):c.8842+41C>T	FAT2, SLC36A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269573	NM_001447.3(FAT2):c.7283T>C (p.Phe2428Ser)	FAT2, SLC36A1 (F2428S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1223032	NM_001447.3(FAT2):c.5919C>T (p.Tyr1973=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1237177	NM_001447.3(FAT2):c.5544T>C (p.Pro1848=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia 45 +1 more	GBenign
Select item 1242642	NM_001447.3(FAT2):c.4711G>A (p.Gly1571Ser)	FAT2, SLC36A1 (G1571S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1237998	NM_001447.3(FAT2):c.4543G>A (p.Gly1515Ser)	FAT2, SLC36A1 (G1515S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1222038	NM_001447.3(FAT2):c.4384G>A (p.Val1462Met)	FAT2, SLC36A1 (V1462M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1294833	NM_001447.3(FAT2):c.4242G>C (p.Ser1414=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1290500	NM_001447.3(FAT2):c.4092G>A (p.Val1364=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided	GBenign

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Items: 56