"PreventionGenetics, part of Exact Sciences"[submitter] AND "PEX16"[ge - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 879237	NM_004813.4(PEX16):c.*175C>A	PEX16	Single nucleotide variant (3 prime UTR variant)	PEX16-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3032880	NM_004813.4(PEX16):c.*170G>A	PEX16	Single nucleotide variant (3 prime UTR variant)	PEX16-related disorder	GLikely benign
Select item 3029486	NM_004813.4(PEX16):c.*123A>G	PEX16	Single nucleotide variant (3 prime UTR variant +1 more)	PEX16-related disorder	GLikely benign
Select item 3036863	NM_004813.4(PEX16):c.*78G>A	PEX16	Single nucleotide variant (3 prime UTR variant +1 more)	PEX16-related disorder	GLikely benign
Select item 880426	NM_004813.4(PEX16):c.*70C>G	PEX16	Single nucleotide variant (3 prime UTR variant +1 more)	PEX16-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3033169	NM_004813.4(PEX16):c.*1C>T	PEX16	Single nucleotide variant (3 prime UTR variant +1 more)	PEX16-related disorder	GLikely benign
Select item 289740	NM_004813.4(PEX16):c.999C>T (p.Tyr333=)	PEX16	Single nucleotide variant (synonymous variant +1 more)	PEX16-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1146416	NM_004813.4(PEX16):c.960C>T (p.Leu320=)	PEX16	Single nucleotide variant (synonymous variant +1 more)	PEX16-related disorder +1 more	GLikely benign
Select item 2912813	NM_004813.4(PEX16):c.953-8C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder +1 more	GLikely benign
Select item 3061419	NM_004813.4(PEX16):c.888-4C>G	PEX16	Single nucleotide variant (intron variant)	PEX16-related disorder	GLikely benign
Select item 1636620	NM_004813.4(PEX16):c.888-7C>T	PEX16	Single nucleotide variant (intron variant)	PEX16-related disorder +1 more	GLikely benign
Select item 287706	NM_004813.4(PEX16):c.887+9C>A	PEX16	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 594434	NM_004813.4(PEX16):c.885C>T (p.Ser295=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder +2 more	GConflicting classifications of pathogenicity
Select item 855996	NM_004813.4(PEX16):c.877C>A (p.Arg293Ser)	PEX16 (R293S)	Single nucleotide variant (missense variant)	PEX16-related disorder +1 more	GUncertain significance
Select item 282806	NM_004813.4(PEX16):c.877C>T (p.Arg293Cys)	PEX16 (R293C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 259547	NM_004813.4(PEX16):c.873T>C (p.Tyr291=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 8A (Zellweger) +4 more	GBenign
Select item 1424989	NM_004813.4(PEX16):c.803G>A (p.Arg268Gln)	PEX16 (R268Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder +2 more	GUncertain significance
Select item 3006593	NM_004813.4(PEX16):c.771G>A (p.Leu257=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder +1 more	GLikely benign
Select item 2737454	NM_004813.4(PEX16):c.684G>C (p.Pro228=)	PEX16	Single nucleotide variant (synonymous variant)	PEX16-related disorder +1 more	GLikely benign
Select item 2737455	NM_004813.4(PEX16):c.681G>A (p.Arg227=)	PEX16	Single nucleotide variant (synonymous variant)	PEX16-related disorder +1 more	GLikely benign
Select item 813887	NM_004813.4(PEX16):c.680G>A (p.Arg227Gln)	PEX16 (R227Q)	Single nucleotide variant (missense variant)	PEX16-related disorder +1 more	GUncertain significance
Select item 2633728	NM_004813.4(PEX16):c.620G>C (p.Ser207Thr)	PEX16 (S207T)	Single nucleotide variant (missense variant)	PEX16-related disorder	GUncertain significance
Select item 878685	NM_004813.4(PEX16):c.616C>G (p.Leu206Val)	PEX16 (L206V)	Single nucleotide variant (missense variant)	PEX16-related disorder +2 more	GUncertain significance
Select item 2636025	NM_004813.4(PEX16):c.542C>T (p.Thr181Met)	PEX16 (T181M)	Single nucleotide variant (missense variant)	PEX16-related disorder	GUncertain significance
Select item 259546	NM_004813.4(PEX16):c.542-16C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 8B +4 more	GBenign
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 1430612	NM_004813.4(PEX16):c.492G>C (p.Gln164His)	PEX16 (Q164H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 500755	NM_004813.4(PEX16):c.461A>G (p.Asp154Gly)	PEX16 (D154G)	Single nucleotide variant (missense variant)	PEX16-related disorder +5 more	GUncertain significance
Select item 753937	NM_004813.4(PEX16):c.444C>G (p.Thr148=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder +1 more	GLikely benign
Select item 1130485	NM_004813.4(PEX16):c.423C>T (p.Ile141=)	PEX16	Single nucleotide variant (synonymous variant)	PEX16-related disorder +1 more	GLikely benign
Select item 304795	NM_004813.4(PEX16):c.360-7G>A	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 8A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 1540780	NM_004813.4(PEX16):c.360-8C>T	PEX16	Single nucleotide variant (intron variant)	PEX16-related disorder +1 more	GLikely benign
Select item 259545	NM_004813.4(PEX16):c.359+20A>G	PEX16	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2179498	NM_004813.4(PEX16):c.339C>T (p.Ile113=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder +1 more	GLikely benign
Select item 259544	NM_004813.4(PEX16):c.307G>A (p.Val103Met)	PEX16 (V103M)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 8A (Zellweger) +3 more	GBenign/Likely benign
Select item 1656572	NM_004813.4(PEX16):c.303C>A (p.Ala101=)	PEX16	Single nucleotide variant (synonymous variant)	PEX16-related disorder +1 more	GLikely benign
Select item 498836	NM_004813.4(PEX16):c.262G>A (p.Val88Met)	PEX16 (V88M)	Single nucleotide variant (missense variant)	PEX16-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1585839	NM_004813.4(PEX16):c.252A>G (p.Thr84=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder +1 more	GLikely benign
Select item 196397	NM_004813.4(PEX16):c.204G>T (p.Glu68Asp)	PEX16 (E68D)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1594428	NM_004813.4(PEX16):c.186C>T (p.Asp62=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder +1 more	GLikely benign
Select item 738979	NM_004813.4(PEX16):c.148+7C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder +1 more	GLikely benign
Select item 1597516	NM_004813.4(PEX16):c.113-4C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder +1 more	GLikely benign
Select item 1554908	NM_004813.4(PEX16):c.113-10C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder +1 more	GLikely benign
Select item 259543	NM_004813.4(PEX16):c.113-11C>T	PEX16	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign

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Items: 44