SLC35E3[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	IL22, BEST3 +163 more	Copy number loss	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	ATXN7L3B, BEST3 +141 more	Copy number loss	See cases	GLikely pathogenic
Select item 3164397	NM_018656.5(SLC35E3):c.103A>G (p.Ile35Val)	SLC35E3 (I35V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295215	NM_018656.5(SLC35E3):c.121T>G (p.Phe41Val)	SLC35E3 (F41V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319610	NM_018656.5(SLC35E3):c.185A>G (p.Gln62Arg)	LOC130008274, SLC35E3 (Q62R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383142	NM_018656.5(SLC35E3):c.209A>G (p.Lys70Arg)	LOC130008274, SLC35E3 (K70R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319609	NM_018656.5(SLC35E3):c.260T>C (p.Phe87Ser)	LOC130008274, SLC35E3 (F87S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164398	NM_018656.5(SLC35E3):c.352C>G (p.Gln118Glu)	SLC35E3 (Q118E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389608	NM_018656.5(SLC35E3):c.365A>G (p.Tyr122Cys)	SLC35E3 (Y122C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319608	NM_018656.5(SLC35E3):c.446T>A (p.Val149Glu)	SLC35E3 (V149E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341124	NM_018656.5(SLC35E3):c.592A>G (p.Met198Val)	SLC35E3 (M198V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243810	NM_018656.5(SLC35E3):c.689C>A (p.Ser230Tyr)	SLC35E3 (S230Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164399	NM_018656.5(SLC35E3):c.700G>A (p.Ala234Thr)	SLC35E3 (A197T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266937	NM_018656.5(SLC35E3):c.706A>T (p.Met236Leu)	SLC35E3 (M236L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236133	NM_018656.5(SLC35E3):c.731T>A (p.Ile244Asn)	SLC35E3 (I207N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324966	NM_018656.5(SLC35E3):c.926T>A (p.Leu309Gln)	SLC35E3 (L272Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	NUP107, RAB3IP +34 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 980441	GRCh37/hg19 12q15(chr12:68572386-70833868)x1	BEST3, CCT2 +17 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 24