"GeneDx"[submitter] AND "PEX12"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 322651	NM_000286.3(PEX12):c.*166C>A	PEX12	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1306186	NM_000286.3(PEX12):c.1042G>A (p.Val348Ile)	PEX12 (V348I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GUncertain significance
Select item 1321526	NM_000286.3(PEX12):c.1022T>A (p.Ile341Asn)	PEX12 (I341N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451464	NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter)	PEX12 (Q337*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1307128	NM_000286.3(PEX12):c.907G>A (p.Val303Met)	PEX12 (V303M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 92777	NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer)	PEX12	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 92776	NM_000286.3(PEX12):c.888_889del (p.Leu297fs)	PEX12 (L297fs)	Microsatellite (frameshift variant)	not provided +4 more	GPathogenic
Select item 553741	NM_000286.3(PEX12):c.744dup (p.Thr249fs)	PEX12 (T249fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder type 3B +3 more	GPathogenic/Likely pathogenic
Select item 371737	NM_000286.3(PEX12):c.730_733dup (p.Leu245fs)	PEX12 (L245fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder type 3B +4 more	GPathogenic/Likely pathogenic
Select item 791675	NM_000286.3(PEX12):c.733T>A (p.Leu245Ile)	PEX12 (L245I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 497605	NM_000286.3(PEX12):c.681-2A>C	PEX12	Single nucleotide variant (splice acceptor variant)	PEX12-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 92775	NM_000286.3(PEX12):c.681-3_681-2del	PEX12	Deletion (splice acceptor variant)	not provided +2 more	GBenign/Likely benign
Select item 1274433	NM_000286.3(PEX12):c.681-276_681-274dup	PEX12	Duplication (intron variant)	not provided	GBenign
Select item 1197697	NM_000286.3(PEX12):c.681-321dup	PEX12	Duplication (intron variant)	not provided	GLikely benign
Select item 1242482	NM_000286.3(PEX12):c.681-307del	PEX12	Deletion (intron variant)	not provided	GBenign
Select item 1250557	NM_000286.3(PEX12):c.680+171T>C	PEX12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1307129	NM_000286.3(PEX12):c.398T>A (p.Leu133Gln)	PEX12 (L133Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501646	NM_000286.3(PEX12):c.268_271del (p.Lys90fs)	PEX12 (K90fs)	Deletion (frameshift variant)	PEX12-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 1188704	NM_000286.3(PEX12):c.126+123A>C	PEX12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 371718	NM_000286.3(PEX12):c.126+1G>T	PEX12	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 92773	NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)	PEX12 (R34S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder type 3B +3 more	GBenign/Likely benign
Select item 280211	NM_000286.3(PEX12):c.51_54dup (p.Ser19fs)	PEX12 (S19fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 322663	NM_000286.3(PEX12):c.-428T>C	PEX12	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 322666	NM_000286.3(PEX12):c.-534C>T	PEX12	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GBenign
Select item 1230466	NC_000017.11:g.35578726C>T	PEX12	Single nucleotide variant	not provided	GBenign
Select item 1186416	NC_000017.11:g.35578961A>G	PEX12	Single nucleotide variant	not provided	GLikely benign

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Items: 26