9409[geneid] - ClinVar - NCBI

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	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 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 154181	GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1	LOC132089937, LOC132089938 +112 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 58891	GRCh38/hg38 11p11.2(chr11:44136593-46121139)x1	ALX4, CD82 +79 more	Copy number loss	See cases	GPathogenic
Select item 368961	NM_057174.2(PEX16):c.*434G>A	PEX16	Single nucleotide variant	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GBenign
Select item 368962	NM_004813.4(PEX16):c.*587A>G	PEX16	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely benign
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 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 304775	NM_004813.4(PEX16):c.*438C>T	PEX16	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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)	Peroxisome biogenesis disorder 8A (Zellweger) +1 more	GBenign
Select item 304778	NM_004813.4(PEX16):c.*341C>T	PEX16	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 1A (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 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 304781	NM_004813.4(PEX16):c.*303C>T	PEX16	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 879237	NM_004813.4(PEX16):c.*175C>A	PEX16	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 8A (Zellweger)	GUncertain significance
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 1284823	NM_004813.4(PEX16):c.*159C>T	PEX16	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 3355203	NM_004813.4(PEX16):c.*127C>T	PEX16 (P335S)	Single nucleotide variant (3 prime UTR variant +1 more)	PEX16-related disorder	GUncertain significance
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 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 3357358	NM_004813.4(PEX16):c.*104dup	PEX16 (P328fs)	Duplication (3 prime UTR variant +1 more)	PEX16-related disorder	GUncertain significance
Select item 3357309	NM_004813.4(PEX16):c.*99G>A	PEX16	Single nucleotide variant (3 prime UTR variant +1 more)	PEX16-related disorder	GLikely benign
Select item 3347271	NM_004813.4(PEX16):c.*86G>C	PEX16 (R321P)	Single nucleotide variant (3 prime UTR variant +1 more)	PEX16-related disorder	GUncertain significance
Select item 30353	NM_004813.4(PEX16):c.952+118_*82del	PEX16	Deletion (splice acceptor variant)	Peroxisome biogenesis disorder 8B	GPathogenic
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 3358757	NM_004813.4(PEX16):c.*71C>T	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)	Peroxisome biogenesis disorder 8A (Zellweger)	GUncertain significance
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 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 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 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 953107	NM_004813.4(PEX16):c.1006G>C (p.Gly336Arg)	PEX16 (G336R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	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 2177877	NM_004813.4(PEX16):c.1001G>A (p.Ser334Asn)	PEX16 (S334N)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 2041699	NM_004813.4(PEX16):c.1001G>C (p.Ser334Thr)	PEX16 (S334T)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 1949051	NM_004813.4(PEX16):c.994_999del (p.Phe332_Tyr333del)	PEX16	Deletion (inframe_deletion +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 289740	NM_004813.4(PEX16):c.999C>T (p.Tyr333=)	PEX16	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1976938	NM_004813.4(PEX16):c.997T>C (p.Tyr333His)	PEX16 (Y333H)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
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 593618	NM_004813.4(PEX16):c.996C>T (p.Phe332=)	PEX16	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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
Select item 1975508	NM_004813.4(PEX16):c.978C>G (p.Thr326=)	PEX16	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 1656614	NM_004813.4(PEX16):c.975C>T (p.Pro325=)	PEX16	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2858180	NM_004813.4(PEX16):c.972G>A (p.Leu324=)	PEX16	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2845187	NM_004813.4(PEX16):c.966T>C (p.Asp322=)	PEX16	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 1017260	NM_004813.4(PEX16):c.962T>C (p.Met321Thr)	PEX16 (M321T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2086845	NM_004813.4(PEX16):c.961A>G (p.Met321Val)	PEX16 (M321V)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 1346269	NM_004813.4(PEX16):c.960_961del (p.Met321fs)	PEX16 (M321fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 1146416	NM_004813.4(PEX16):c.960C>T (p.Leu320=)	PEX16	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	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 795067	NM_004813.4(PEX16):c.957G>A (p.Pro319=)	PEX16	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2753863	NM_004813.4(PEX16):c.953-4G>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2130257	NM_004813.4(PEX16):c.953-5T>A	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GUncertain significance
Select item 2912813	NM_004813.4(PEX16):c.953-8C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2171109	NM_004813.4(PEX16):c.953-9C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2201234	NM_004813.4(PEX16):c.953-12C>G	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2031512	NM_004813.4(PEX16):c.953-12C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2787771	NM_004813.4(PEX16):c.953-15C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2789021	NM_004813.4(PEX16):c.953-20G>A	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 1289589	NM_004813.4(PEX16):c.952+203C>T	PEX16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167493	NM_004813.4(PEX16):c.952+20_952+21del	PEX16	Microsatellite (intron variant)	Peroxisome biogenesis disorder	GBenign
Select item 2749872	NM_004813.4(PEX16):c.952+20C>G	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 1590521	NM_004813.4(PEX16):c.952+20C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2749473	NM_004813.4(PEX16):c.952+19G>C	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2414140	NM_004813.4(PEX16):c.952+19G>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 1590640	NM_004813.4(PEX16):c.952+19G>A	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 445764	NM_004813.4(PEX16):c.952+18C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder +1 more	GBenign/Likely benign
Select item 1440417	NM_004813.4(PEX16):c.952+15G>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GUncertain significance
Select item 2770062	NM_004813.4(PEX16):c.952+12T>C	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 1534078	NM_004813.4(PEX16):c.952+10G>A	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2766645	NM_004813.4(PEX16):c.952+9G>A	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 1090552	NM_004813.4(PEX16):c.952+8G>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 1945934	NM_004813.4(PEX16):c.952+6C>T	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GUncertain significance
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 1501585	NM_004813.4(PEX16):c.952+3A>C	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GUncertain significance
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 2763811	NM_004813.4(PEX16):c.948C>T (p.Val316=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 304786	NM_004813.4(PEX16):c.946G>A (p.Val316Ile)	PEX16 (V316I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 8A (Zellweger) +2 more	GUncertain significance
Select item 2771725	NM_004813.4(PEX16):c.945G>C (p.Leu315=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 1428715	NM_004813.4(PEX16):c.945G>A (p.Leu315=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 768443	NM_004813.4(PEX16):c.943C>T (p.Leu315=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder +1 more	GBenign
Select item 2850688	NM_004813.4(PEX16):c.942C>A (p.Gly314=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2837030	NM_004813.4(PEX16):c.942C>T (p.Gly314=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 956787	NM_004813.4(PEX16):c.937G>A (p.Val313Ile)	PEX16 (V313I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder	GUncertain significance
Select item 3019611	NM_004813.4(PEX16):c.936C>G (p.Gly312=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 1906398	NM_004813.4(PEX16):c.936C>T (p.Gly312=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2839820	NM_004813.4(PEX16):c.935G>T (p.Gly312Val)	PEX16 (G312V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder	GUncertain significance
Select item 2841728	NM_004813.4(PEX16):c.933T>A (p.Pro311=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2055949	NM_004813.4(PEX16):c.933T>G (p.Pro311=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 1618367	NM_004813.4(PEX16):c.930C>T (p.Val310=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 1391307	NM_004813.4(PEX16):c.928G>A (p.Val310Ile)	PEX16 (V310I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder	GUncertain significance
Select item 2029409	NM_004813.4(PEX16):c.927C>T (p.His309=)	PEX16	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 1984665	NM_004813.4(PEX16):c.923A>T (p.Asp308Val)	PEX16 (D308V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder	GUncertain significance
Select item 1038144	NM_004813.4(PEX16):c.922G>A (p.Asp308Asn)	PEX16 (D308N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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