ClinVar for MedGen (Select 766874) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579686	NM_004813.4(PEX16):c.952+3A>G	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 8B	GUncertain significance
Select item 2502871	NM_004813.4(PEX16):c.679C>G (p.Arg227Gly)	PEX16 (R227G)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 8B	GLikely pathogenic
Select item 1943605	NM_004813.4(PEX16):c.829C>T (p.Arg277Trp)	PEX16 (R277W)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder +1 more	GConflicting classifications of pathogenicity
Select item 909634	NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys)	MMUT (R655C)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 8A (Zellweger) +4 more	GConflicting classifications of pathogenicity
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 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)	PEX16-related disorder +5 more	GUncertain significance
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 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 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 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 259546	NM_004813.4(PEX16):c.542-16C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 8B +4 more	GBenign
Select item 209181	NM_004813.4(PEX16):c.995_997del (p.Phe332del)	PEX16 (F332del)	Deletion (inframe_deletion +1 more)	Peroxisome biogenesis disorder 8B	GLikely pathogenic
Select item 198814	NM_004813.4(PEX16):c.695-6C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder +4 more	GConflicting classifications of pathogenicity
Select item 30353	NM_004813.4(PEX16):c.952+118_*82del	PEX16	Deletion (splice acceptor variant)	Peroxisome biogenesis disorder 8B	GPathogenic
Select item 30352	NM_004813.4(PEX16):c.992A>G (p.Tyr331Cys)	PEX16 (Y331C)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 8B	GPathogenic
Select item 30351	NM_004813.4(PEX16):c.984del (p.Ile330fs)	PEX16 (I330fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 8B	GPathogenic