"PreventionGenetics, part of Exact Sciences"[submitter] AND "PEX12"[ge - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1987984	NM_000286.3(PEX12):c.1021A>G (p.Ile341Val)	PEX12 (I341V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GUncertain significance
Select item 2634688	NM_000286.3(PEX12):c.1003A>C (p.Ser335Arg)	PEX12 (S335R)	Single nucleotide variant (missense variant)	PEX12-related disorder	GUncertain significance
Select item 1449336	NM_000286.3(PEX12):c.724G>A (p.Gly242Ser)	PEX12 (G242S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger) +2 more	GUncertain significance
Select item 287347	NM_000286.3(PEX12):c.722G>T (p.Gly241Val)	PEX12 (G241V)	Single nucleotide variant (missense variant)	PEX12-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 497605	NM_000286.3(PEX12):c.681-2A>C	PEX12	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3045269	NM_000286.3(PEX12):c.680+6G>A	PEX12	Single nucleotide variant (intron variant)	PEX12-related disorder	GLikely benign
Select item 798566	NM_000286.3(PEX12):c.666G>A (p.Gln222=)	PEX12	Single nucleotide variant (synonymous variant)	PEX12-related disorder +2 more	GLikely benign
Select item 2048166	NM_000286.3(PEX12):c.635A>G (p.Glu212Gly)	PEX12 (E212G)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 594596	NM_000286.3(PEX12):c.570A>G (p.Ser190=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 2830754	NM_000286.3(PEX12):c.569C>G (p.Ser190Ter)	PEX12 (S190*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GPathogenic/Likely pathogenic
Select item 1636770	NM_000286.3(PEX12):c.547C>T (p.Leu183=)	PEX12	Single nucleotide variant (synonymous variant)	PEX12-related disorder +1 more	GLikely benign
Select item 551612	NM_000286.3(PEX12):c.460C>T (p.Arg154Ter)	PEX12 (R154*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder type 3B +2 more	GPathogenic/Likely pathogenic
Select item 285542	NM_000286.3(PEX12):c.452G>A (p.Arg151His)	PEX12 (R151H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 92774	NM_000286.3(PEX12):c.451C>T (p.Arg151Cys)	PEX12 (R151C)	Single nucleotide variant (missense variant)	PEX12-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 750132	NM_000286.3(PEX12):c.447T>C (p.Ser149=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GLikely benign
Select item 191074	NM_000286.3(PEX12):c.334C>T (p.Gln112Ter)	PEX12 (Q112*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 3A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 1531322	NM_000286.3(PEX12):c.192T>C (p.Thr64=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GLikely benign
Select item 92773	NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)	PEX12 (R34S)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 3052156	NM_000286.3(PEX12):c.-5A>G	PEX12	Single nucleotide variant (5 prime UTR variant)	PEX12-related disorder	GLikely benign