ClinVar for MedGen (Select 766873) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339506	NM_004813.4(PEX16):c.460+5G>A	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder +1 more	GConflicting classifications of pathogenicity
Select item 1032942	NM_004813.4(PEX16):c.227C>T (p.Ser76Leu)	PEX16 (S76L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 8A (Zellweger) +1 more	GUncertain significance
Select item 909634	NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys)	MMUT (R655C)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 8A (Zellweger) +3 more	GUncertain significance
Select item 880472	NM_004813.4(PEX16):c.-63G>C	PEX16	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 8A (Zellweger)	GUncertain significance
Select item 880471	NM_004813.4(PEX16):c.149-13C>G	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder +1 more	GConflicting classifications of pathogenicity
Select item 880427	NM_004813.4(PEX16):c.*53C>G	PEX16	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 8A (Zellweger)	GUncertain significance
Select item 880426	NM_004813.4(PEX16):c.*70C>G	PEX16	Single nucleotide variant (3 prime UTR variant +1 more)	PEX16-related condition +1 more	GConflicting classifications of pathogenicity
Select item 879295	NM_004813.4(PEX16):c.197G>A (p.Arg66Gln)	PEX16 (R66Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 8A (Zellweger)	GUncertain significance
Select item 879237	NM_004813.4(PEX16):c.*175C>A	PEX16	Single nucleotide variant (3 prime UTR variant)	PEX16-related condition +1 more	GConflicting classifications of pathogenicity
Select item 878686	NM_004813.4(PEX16):c.454C>A (p.Pro152Thr)	PEX16 (P152T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 8A (Zellweger)	GUncertain significance
Select item 878685	NM_004813.4(PEX16):c.616C>G (p.Leu206Val)	PEX16 (L206V)	Single nucleotide variant (missense variant)	PEX16-related condition +2 more	GUncertain significance
Select item 878684	NM_004813.4(PEX16):c.672C>T (p.Tyr224=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder +1 more	GConflicting classifications of pathogenicity
Select item 877673	NM_004813.4(PEX16):c.706G>C (p.Gly236Arg)	PEX16 (G236R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 8A (Zellweger)	GUncertain significance
Select item 877672	NM_004813.4(PEX16):c.730A>C (p.Lys244Gln)	PEX16 (K244Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 8A (Zellweger)	GUncertain significance
Select item 877671	NM_004813.4(PEX16):c.861C>T (p.Arg287=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 8A (Zellweger)	GUncertain significance
Select item 813887	NM_004813.4(PEX16):c.680G>A (p.Arg227Gln)	PEX16 (R227Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 8A (Zellweger) +1 more	GUncertain significance
Select item 802673	NM_004813.4(PEX16):c.346G>A (p.Val116Ile)	PEX16 (V116I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 8A (Zellweger) +3 more	GBenign
Select item 719045	NM_004813.4(PEX16):c.149-6C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 8A (Zellweger) +1 more	GBenign/Likely benign
Select item 596919	NM_004813.4(PEX16):c.812G>A (p.Arg271Gln)	PEX16 (R271Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 8A (Zellweger) +2 more	GUncertain significance
Select item 561075	NM_004813.4(PEX16):c.859C>T (p.Arg287Cys)	PEX16 (R287C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 500755	NM_004813.4(PEX16):c.461A>G (p.Asp154Gly)	PEX16 (D154G)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 8A (Zellweger) +5 more	GUncertain significance
Select item 498836	NM_004813.4(PEX16):c.262G>A (p.Val88Met)	PEX16 (V88M)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 8A (Zellweger) +4 more	GConflicting classifications of pathogenicity
Select item 304797	NM_004813.4(PEX16):c.303C>T (p.Ala101=)	PEX16	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 304796	NM_004813.4(PEX16):c.348C>T (p.Val116=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 8A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 304795	NM_004813.4(PEX16):c.360-7G>A	PEX16	Single nucleotide variant (intron variant)	PEX16-related condition +2 more	GConflicting classifications of pathogenicity
Select item 304794	NM_004813.4(PEX16):c.540C>G (p.Asn180Lys)	PEX16 (N180K)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 8A (Zellweger)	GUncertain significance
Select item 304793	NM_004813.4(PEX16):c.609C>T (p.His203=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 8A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 304791	NM_004813.4(PEX16):c.694+11C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 8A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 304790	NM_004813.4(PEX16):c.699C>T (p.Leu233=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 8A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 304789	NM_004813.4(PEX16):c.726G>A (p.Ser242=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder +2 more	GConflicting classifications of pathogenicity
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 304787	NM_004813.4(PEX16):c.918G>C (p.Leu306=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 8A (Zellweger)	GUncertain significance
Select item 304786	NM_004813.4(PEX16):c.946G>A (p.Val316Ile)	PEX16 (V316I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder +1 more	GUncertain significance
Select item 304785	NM_004813.4(PEX16):c.*65T>C	PEX16	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 8B +2 more	GLikely benign
Select item 304784	NM_004813.4(PEX16):c.*107C>T	PEX16 (P328L)	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 8A (Zellweger)	GUncertain significance
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 304782	NM_004813.4(PEX16):c.*277C>T	PEX16	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 8A (Zellweger)	GUncertain significance
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 304780	NM_004813.4(PEX16):c.*309G>C	PEX16	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 8A (Zellweger)	GUncertain significance
Select item 304779	NM_004813.4(PEX16):c.*324G>A	PEX16	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 8A (Zellweger)	GUncertain significance
Select item 304777	NM_004813.4(PEX16):c.*376G>A	PEX16	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 8A (Zellweger)	GUncertain significance
Select item 304776	NM_004813.4(PEX16):c.*376G>C	PEX16	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 304774	NM_004813.4(PEX16):c.*491G>A	PEX16	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 8A (Zellweger)	GUncertain significance
Select item 304773	NM_004813.4(PEX16):c.*557G>C	PEX16	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 8A (Zellweger)	GUncertain significance
Select item 286888	NM_004813.4(PEX16):c.1002T>C (p.Ser334=)	PEX16	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 282806	NM_004813.4(PEX16):c.877C>T (p.Arg293Cys)	PEX16 (R293C)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 8A (Zellweger) +4 more	GUncertain significance
Select item 281167	NM_004813.4(PEX16):c.*10C>T	PEX16	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
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 259546	NM_004813.4(PEX16):c.542-16C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 8B +4 more	GBenign
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 198814	NM_004813.4(PEX16):c.695-6C>T	PEX16	Single nucleotide variant (intron variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 196397	NM_004813.4(PEX16):c.204G>T (p.Glu68Asp)	PEX16 (E68D)	Single nucleotide variant (missense variant)	PEX16-related condition +4 more	GConflicting classifications of pathogenicity
Select item 6467	NM_004813.4(PEX16):c.952+2T>C	PEX16	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 8A (Zellweger)	GPathogenic
Select item 6466	NM_004813.4(PEX16):c.526C>T (p.Arg176Ter)	PEX16 (R176*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic

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Items: 55