SLC35E1[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 58339	GRCh38/hg38 19p13.11(chr19:16485144-16672218)x1	C19orf44, CALR3 +24 more	Copy number loss	See cases	GUncertain significance
Select item 3164366	NM_024881.5(SLC35E1):c.1183A>G (p.Ser395Gly)	SLC35E1 (S395G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216242	NM_024881.5(SLC35E1):c.1150C>T (p.Arg384Cys)	SLC35E1 (R384C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348525	NM_024881.5(SLC35E1):c.1132G>A (p.Gly378Arg)	SLC35E1 (G378R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523467	NM_024881.5(SLC35E1):c.1111G>A (p.Gly371Ser)	SLC35E1 (G371S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164365	NM_024881.5(SLC35E1):c.1105C>T (p.His369Tyr)	SLC35E1 (H369Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364203	NM_024881.5(SLC35E1):c.1084C>T (p.Arg362Trp)	SLC35E1 (R362W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217711	NM_024881.5(SLC35E1):c.1012G>A (p.Asp338Asn)	SLC35E1 (D338N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486796	NM_024881.5(SLC35E1):c.955G>A (p.Val319Ile)	SLC35E1 (V319I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352127	NM_024881.5(SLC35E1):c.884A>G (p.Asn295Ser)	SLC35E1 (N295S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287508	NM_024881.5(SLC35E1):c.877G>A (p.Val293Ile)	SLC35E1 (V293I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361141	NM_024881.5(SLC35E1):c.763G>A (p.Val255Ile)	SLC35E1 (V255I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307435	NM_024881.5(SLC35E1):c.712T>A (p.Trp238Arg)	SLC35E1 (W238R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388982	NM_024881.5(SLC35E1):c.699T>A (p.Phe233Leu)	SLC35E1 (F233L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287876	NM_024881.5(SLC35E1):c.602T>G (p.Phe201Cys)	SLC35E1 (F201C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483215	NM_024881.5(SLC35E1):c.548A>G (p.Glu183Gly)	SLC35E1 (E183G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304829	NM_024881.5(SLC35E1):c.464T>C (p.Ile155Thr)	SLC35E1 (I155T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258331	NM_024881.5(SLC35E1):c.389T>C (p.Ile130Thr)	SLC35E1 (I130T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351712	NM_024881.5(SLC35E1):c.382G>A (p.Val128Ile)	SLC35E1 (V128I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319460	NM_024881.5(SLC35E1):c.351C>G (p.Phe117Leu)	SLC35E1 (F117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534595	NM_024881.5(SLC35E1):c.295T>C (p.Ser99Pro)	SLC35E1 (S99P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361439	NM_024881.5(SLC35E1):c.287A>G (p.His96Arg)	LOC130063884, SLC35E1 (H96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534593	NM_024881.5(SLC35E1):c.280A>G (p.Ser94Gly)	LOC130063884, SLC35E1 (S94G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164368	NM_024881.5(SLC35E1):c.253G>A (p.Ala85Thr)	LOC130063884, SLC35E1 (A85T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227426	NM_024881.5(SLC35E1):c.83C>T (p.Ala28Val)	SLC35E1 (A28V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164367	NM_024881.5(SLC35E1):c.19G>C (p.Gly7Arg)	SLC35E1 (G7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318611	NM_024881.5(SLC35E1):c.10G>T (p.Ala4Ser)	SLC35E1 (A4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	SLC1A6, RAB8A +57 more	Deletion	not provided	GUncertain significance
Select item 1808337	GRCh37/hg19 19p13.11(chr19:16665170-16741745)x1	MED26, SLC35E1	Copy number loss	not provided	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 564576	GRCh37/hg19 19p13.11(chr19:16665169-16741745)x1	MED26, SLC35E1	Copy number loss	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442665	GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1	ANO8, ABHD8 +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 442476	GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1	ADGRE2, AKAP8 +45 more	Copy number loss	See cases	GPathogenic
Select item 424641	GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1	HSH2D, KLF2 +46 more	Copy number loss	not provided	GPathogenic

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Items: 42