"PreventionGenetics, part of Exact Sciences"[submitter] AND "PEX10"[ge - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262787	NM_002617.4(PEX10):c.*11G>A	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +2 more	GBenign
Select item 1448457	NM_002617.4(PEX10):c.960C>G (p.Ile320Met)	PEX10 (I195M +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GUncertain significance
Select item 597492	NM_002617.4(PEX10):c.913-3C>T	PEX10	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 262791	NM_002617.4(PEX10):c.913-4G>A	PEX10	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 283862	NM_002617.4(PEX10):c.896C>T (p.Ala299Val)	PEX10 (A319V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 788258	NM_002617.4(PEX10):c.894C>T (p.Thr298=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GLikely benign
Select item 262790	NM_002617.4(PEX10):c.843G>A (p.Arg281=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +3 more	GBenign
Select item 197887	NM_002617.4(PEX10):c.820A>G (p.Thr274Ala)	PEX10 (T294A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 763313	NM_002617.4(PEX10):c.776+9G>A	PEX10	Single nucleotide variant (intron variant)	PEX10-related disorder +1 more	GLikely benign
Select item 296274	NM_002617.4(PEX10):c.776+8C>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GConflicting classifications of pathogenicity
Select item 750175	NM_002617.4(PEX10):c.771C>T (p.His257=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1163122	NM_002617.4(PEX10):c.752T>C (p.Leu251Pro)	PEX10 (L107P +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GConflicting classifications of pathogenicity
Select item 197385	NM_002617.4(PEX10):c.712G>C (p.Gly238Arg)	PEX10 (G258R +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +4 more	GConflicting classifications of pathogenicity
Select item 197386	NM_002617.4(PEX10):c.611G>A (p.Arg204His)	PEX10 (R224H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 849066	NM_002617.4(PEX10):c.604C>A (p.Arg202Ser)	PEX10 (R202S +4 more)	Single nucleotide variant (missense variant +1 more)	PEX10-related disorder +2 more	GUncertain significance
Select item 707987	NM_002617.4(PEX10):c.601-7C>T	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GLikely benign
Select item 500033	NM_002617.4(PEX10):c.601-27A>G	PEX10 (M212V +2 more)	Single nucleotide variant (missense variant +1 more)	PEX10-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3015875	NM_002617.4(PEX10):c.601-65C>T	PEX10	Single nucleotide variant (intron variant)	PEX10-related disorder +1 more	GLikely benign
Select item 3048489	NM_002617.4(PEX10):c.600+9C>G	PEX10	Single nucleotide variant (intron variant)	PEX10-related disorder	GLikely benign
Select item 1096141	NM_002617.4(PEX10):c.561C>T (p.Val187=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	PEX10-related disorder +1 more	GLikely benign
Select item 1103381	NM_002617.4(PEX10):c.498C>T (p.Val166=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	PEX10-related disorder +1 more	GLikely benign
Select item 196588	NM_002617.4(PEX10):c.495C>T (p.Phe165=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1096721	NM_002617.4(PEX10):c.477G>A (p.Ala159=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	PEX10-related disorder +1 more	GLikely benign
Select item 972560	NM_002617.4(PEX10):c.470G>A (p.Arg157Lys)	PEX10 (R157K +1 more)	Single nucleotide variant (missense variant +1 more)	PEX10-related disorder +1 more	GUncertain significance
Select item 3061715	NM_002617.4(PEX10):c.437G>C (p.Arg146Pro)	PEX10 (R146P +1 more)	Single nucleotide variant (missense variant +1 more)	PEX10-related disorder	GUncertain significance
Select item 296280	NM_002617.4(PEX10):c.418G>C (p.Gly140Arg)	PEX10 (G140R)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder, complementation group 7 +5 more	GConflicting classifications of pathogenicity
Select item 972109	NM_002617.4(PEX10):c.390C>G (p.Ser130Arg)	PEX10 (S130R)	Single nucleotide variant (missense variant +2 more)	PEX10-related disorder +1 more	GUncertain significance
Select item 289556	NM_002617.4(PEX10):c.333C>T (p.Leu111=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 262789	NM_002617.4(PEX10):c.318G>A (p.Leu106=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger) +3 more	GBenign/Likely benign
Select item 296281	NM_002617.4(PEX10):c.316C>T (p.Leu106=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder, complementation group 7 +3 more	GConflicting classifications of pathogenicity
Select item 129884	NM_002617.4(PEX10):c.291A>G (p.Thr97=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GBenign
Select item 129883	NM_002617.4(PEX10):c.279C>T (p.Gly93=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger) +4 more	GBenign
Select item 961415	NM_002617.4(PEX10):c.274C>G (p.Arg92Gly)	PEX10 (R92G)	Single nucleotide variant (missense variant +2 more)	PEX10-related disorder +1 more	GUncertain significance
Select item 1567255	NM_002617.4(PEX10):c.255T>C (p.His85=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GLikely benign
Select item 1103460	NM_002617.4(PEX10):c.246G>A (p.Ser82=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GLikely benign
Select item 1113573	NM_002617.4(PEX10):c.205C>T (p.Leu69=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GLikely benign
Select item 1585641	NM_002617.4(PEX10):c.194-4G>A	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7 +1 more	GLikely benign
Select item 262788	NM_002617.4(PEX10):c.194-5C>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7 +3 more	GConflicting classifications of pathogenicity
Select item 1086459	NM_002617.4(PEX10):c.138G>A (p.Arg46=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	PEX10-related disorder +1 more	GLikely benign
Select item 2040996	NM_002617.4(PEX10):c.102C>G (p.His34Gln)	PEX10 (H34Q)	Single nucleotide variant (missense variant +1 more)	PEX10-related disorder +2 more	GUncertain significance
Select item 1098054	NM_002617.4(PEX10):c.36C>T (p.Ile12=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	PEX10-related disorder +1 more	GLikely benign
Select item 718967	NM_002617.4(PEX10):c.27G>A (p.Pro9=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	PEX10-related disorder +2 more	GBenign/Likely benign
Select item 449304	NM_002617.4(PEX10):c.4del (p.Ala2fs)	PEX10 (A2fs)	Deletion (frameshift variant +2 more)	Peroxisome biogenesis disorder +4 more	GPathogenic
Select item 3046243	NM_002617.4(PEX10):c.-3G>C	PEX10	Single nucleotide variant (5 prime UTR variant +1 more)	PEX10-related disorder	GLikely benign
Select item 3051842	NM_002617.4(PEX10):c.-7C>T	PEX10	Single nucleotide variant (5 prime UTR variant +1 more)	PEX10-related disorder	GLikely benign

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Items: 45