"GeneDx"[submitter] AND "PEX16"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic
Select item 304775	NM_004813.4(PEX16):c.*438C>T	PEX16	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 304776	NM_004813.4(PEX16):c.*376G>C	PEX16	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 8A (Zellweger) +1 more	GBenign
Select item 304781	NM_004813.4(PEX16):c.*303C>T	PEX16	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 304783	NM_004813.4(PEX16):c.*158A>C	PEX16 (H345P)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 304785	NM_004813.4(PEX16):c.*65T>C	PEX16	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GLikely benign
Select item 424163	NM_004813.4(PEX16):c.956_958del (p.Pro319del)	PEX16 (P319del)	Deletion (inframe_deletion +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1289589	NM_004813.4(PEX16):c.952+203C>T	PEX16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221996	NM_004813.4(PEX16):c.888-249G>A	PEX16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290597	NM_004813.4(PEX16):c.888-287A>T	PEX16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236937	NM_004813.4(PEX16):c.887+117G>A	PEX16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 282806	NM_004813.4(PEX16):c.877C>T (p.Arg293Cys)	PEX16 (R293C)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder +4 more	GUncertain significance
Select item 259547	NM_004813.4(PEX16):c.873T>C (p.Tyr291=)	PEX16	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 2044014	NM_004813.4(PEX16):c.865C>G (p.Pro289Ala)	PEX16 (P289A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1178265	NM_004813.4(PEX16):c.768-38A>G	PEX16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 304788	NM_004813.4(PEX16):c.760G>C (p.Val254Leu)	PEX16 (V254L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 420154	NM_004813.4(PEX16):c.679C>T (p.Arg227Trp)	PEX16 (R227W)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder +1 more	GLikely pathogenic
Select item 593425	NM_004813.4(PEX16):c.632C>T (p.Thr211Ile)	PEX16 (T211I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801933	NM_004813.4(PEX16):c.609C>G (p.His203Gln)	PEX16 (H203Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259546	NM_004813.4(PEX16):c.542-16C>T	PEX16	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 6466	NM_004813.4(PEX16):c.526C>T (p.Arg176Ter)	PEX16 (R176*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 499595	NM_004813.4(PEX16):c.499G>A (p.Val167Met)	PEX16 (V167M)	Single nucleotide variant (missense variant)	PEX16-related disorder +3 more	GUncertain significance
Select item 1264029	NM_004813.4(PEX16):c.460+202C>G	PEX16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217945	NM_004813.4(PEX16):c.460+84G>A	PEX16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259544	NM_004813.4(PEX16):c.307G>A (p.Val103Met)	PEX16 (V103M)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 304797	NM_004813.4(PEX16):c.303C>T (p.Ala101=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 8A (Zellweger) +2 more	GBenign
Select item 196397	NM_004813.4(PEX16):c.204G>T (p.Glu68Asp)	PEX16 (E68D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1294055	NM_004813.4(PEX16):c.149-116_149-115del	PEX16	Deletion (intron variant)	not provided	GBenign
Select item 1272155	NM_004813.4(PEX16):c.148+137A>T	PEX16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 304802	NM_004813.2(PEX16):c.-279G>A	PEX16	Single nucleotide variant (genic upstream transcript variant)	not provided +1 more	GBenign/Likely benign
Select item 1245136	NC_000011.10:g.45918297A>C	PEX16	Single nucleotide variant	not provided	GBenign
Select item 1226755	NC_000011.10:g.45918383C>G	PEX16	Single nucleotide variant	not provided	GBenign
Select item 1272054	NC_000011.10:g.45918468A>G	PEX16	Single nucleotide variant	not provided	GBenign

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Items: 33