ClinVar for Gene (Select 5192) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247933	NC_000001.10:g.(?_1718770)_(2343941_?)del	CALML6, CFAP74 +9 more	Deletion	not provided	GPathogenic
Select item 3247906	NC_000001.10:g.(?_1470739)_(3768971_?)dup	MEGF6, MIB2 +38 more	Duplication	not provided	GUncertain significance
Select item 3247775	NC_000001.10:g.(?_2337205)_(2341910_?)del	PEX10	Deletion	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 3247774	NC_000001.10:g.(?_2343810)_(2343941_?)del	PEX10	Deletion	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 3247720	NC_000001.10:g.(?_1146935)_(3768971_?)del	ACAP3, ACTRT2 +60 more	Deletion	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3240083	NM_002617.4(PEX10):c.663_664del (p.Val222fs)	PEX10 (V222fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 3240082	NM_002617.4(PEX10):c.913-1G>A	PEX10	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 3240081	NM_002617.4(PEX10):c.882G>A (p.Trp294Ter)	PEX10 (W150* +4 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 3211485	NM_002617.4(PEX10):c.601-12T>C	PEX10 (S217P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3211484	NM_002617.4(PEX10):c.487G>T (p.Ala163Ser)	PEX10 (A19S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3211483	NM_002617.4(PEX10):c.471G>T (p.Arg157Ser)	PEX10 (R13S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063255	GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	ACAP3, ACTRT2 +76 more	Copy number gain	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 3063066	GRCh37/hg19 1p36.33-36.31(chr1:1959612-5471235)x1	ACTRT2, AJAP1 +27 more	Copy number loss	not specified	GPathogenic
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 3051842	NM_002617.4(PEX10):c.-7C>T	PEX10	Single nucleotide variant (5 prime UTR variant +1 more)	PEX10-related disorder	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 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 3023639	NM_002617.4(PEX10):c.112+13C>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 3022995	NM_002617.4(PEX10):c.107T>G (p.Leu36Arg)	PEX10 (L36R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 3021534	NM_002617.4(PEX10):c.113-14G>C	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 3021026	NM_002617.4(PEX10):c.776+11G>C	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 3020668	NM_002617.4(PEX10):c.270G>A (p.Leu90=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
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 3013015	NM_002617.4(PEX10):c.777-15C>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 3012312	NM_002617.4(PEX10):c.113-11T>C	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 3006174	NM_002617.4(PEX10):c.933G>A (p.Arg311=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2994835	NM_002617.4(PEX10):c.820_828del (p.Thr274_Cys276del)	PEX10	Deletion (inframe_deletion +1 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 2988475	NM_002617.4(PEX10):c.913-15_913-14del	PEX10	Deletion (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2987760	NM_002617.4(PEX10):c.207G>T (p.Leu69=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2980349	NM_002617.4(PEX10):c.600+11G>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2968988	NM_002617.4(PEX10):c.510C>T (p.Gly170=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2966332	NM_002617.4(PEX10):c.681C>T (p.His227=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2958588	NM_002617.4(PEX10):c.113-19del	PEX10	Deletion (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2957566	NM_002617.4(PEX10):c.113-18T>C	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2956222	NM_002617.4(PEX10):c.369T>C (p.Ser123=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2916198	NM_002617.4(PEX10):c.831G>A (p.Leu277=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2913680	NM_002617.4(PEX10):c.44C>T (p.Ala15Val)	PEX10 (A15V)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 2904626	NM_002617.4(PEX10):c.194-11C>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2893573	NM_002617.4(PEX10):c.858_870del (p.Pro287fs)	PEX10 (P162fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GPathogenic/Likely pathogenic
Select item 2890057	NM_002617.4(PEX10):c.134G>A (p.Trp45Ter)	PEX10 (W45*)	Single nucleotide variant (5 prime UTR variant +2 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 2887794	NM_002617.4(PEX10):c.486G>A (p.Arg162=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2884706	NM_002617.4(PEX10):c.786G>A (p.Leu262=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2881701	NM_002617.4(PEX10):c.193+16G>A	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2871752	NM_002617.4(PEX10):c.465G>A (p.Gln155=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2869078	NM_002617.4(PEX10):c.363del (p.Asp122fs)	PEX10 (D122fs)	Deletion (frameshift variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GPathogenic/Likely pathogenic
Select item 2867299	NM_002617.4(PEX10):c.113-19A>G	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2864768	NM_002617.4(PEX10):c.855C>T (p.Ala285=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2856418	NM_002617.4(PEX10):c.450C>T (p.Ala150=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2853359	NM_002617.4(PEX10):c.9G>A (p.Pro3=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2850658	NM_002617.4(PEX10):c.194-6T>C	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2850113	NM_002617.4(PEX10):c.213G>A (p.Glu71=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2846681	NM_002617.4(PEX10):c.603C>T (p.Leu201=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2845222	NM_002617.4(PEX10):c.600+11G>A	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2838340	NM_002617.4(PEX10):c.211del (p.Glu71fs)	PEX10 (E71fs)	Deletion (frameshift variant +2 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 2831002	NM_002617.4(PEX10):c.600+12G>A	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2828234	NM_002617.4(PEX10):c.777-13C>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2823949	NM_002617.4(PEX10):c.702G>A (p.Leu234=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2813979	NM_002617.4(PEX10):c.537T>A (p.Val179=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2812896	NM_002617.4(PEX10):c.687G>A (p.Val229=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2811008	NM_002617.4(PEX10):c.26C>A (p.Pro9Gln)	PEX10 (P9Q)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GUncertain significance
Select item 2807426	NM_002617.4(PEX10):c.601-31C>T	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2806013	NM_002617.4(PEX10):c.912+20C>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2802557	NM_002617.4(PEX10):c.396G>A (p.Gly132=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2793770	NM_002617.4(PEX10):c.600+19G>C	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2793043	NM_002617.4(PEX10):c.912+19G>C	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2789425	NM_002617.4(PEX10):c.909C>T (p.Ser303=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2788147	NM_002617.4(PEX10):c.777-12del	PEX10	Deletion (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GBenign
Select item 2788144	NM_002617.4(PEX10):c.261C>T (p.Pro87=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2784871	NM_002617.4(PEX10):c.622G>T (p.Gly208Ter)	PEX10 (G227* +4 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 2781765	NM_002617.4(PEX10):c.899G>A (p.Trp300Ter)	PEX10 (W156* +4 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 2769407	NM_002617.4(PEX10):c.903del (p.Trp300_Cys301insTer)	PEX10	Deletion (nonsense +1 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 2769260	NM_002617.4(PEX10):c.551_555del (p.Ile184fs)	PEX10 (I184fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 2766294	NM_002617.4(PEX10):c.247del (p.Arg83fs)	PEX10 (R83fs)	Deletion (frameshift variant +2 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 2765985	NM_002617.4(PEX10):c.832dup (p.Glu278fs)	PEX10 (E298fs +4 more)	Duplication (frameshift variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 2763660	NM_002617.4(PEX10):c.576C>A (p.Ala192=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2761992	NM_002617.4(PEX10):c.601-43T>C	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2759940	NM_002617.4(PEX10):c.678G>A (p.Leu226=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2759923	NM_002617.4(PEX10):c.183C>A (p.Thr61=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2759523	NM_002617.4(PEX10):c.887del (p.Cys296fs)	PEX10 (C152fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 2756352	NM_002617.4(PEX10):c.1A>C (p.Met1Leu)	PEX10 (M1L)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 2754577	NM_002617.4(PEX10):c.913-19C>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2752346	NM_002617.4(PEX10):c.978C>G (p.Arg326=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2750251	NM_002617.4(PEX10):c.117G>A (p.Ala39=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2749267	NM_002617.4(PEX10):c.669C>T (p.Ile223=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2746428	NM_002617.4(PEX10):c.120del (p.Lys41fs)	PEX10 (K41fs)	Deletion (frameshift variant +2 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 2743664	NM_002617.4(PEX10):c.601-39del	PEX10 (L63fs +2 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 2734816	NM_002617.4(PEX10):c.601-37C>G	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2733820	NM_002617.4(PEX10):c.3G>A (p.Met1Ile)	PEX10 (M1I)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 2713139	NM_002617.4(PEX10):c.600+20G>A	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2711670	NM_002617.4(PEX10):c.913-20C>T	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2710654	NM_002617.4(PEX10):c.198C>G (p.Tyr66Ter)	PEX10 (Y66*)	Single nucleotide variant (nonsense +2 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 2710317	NM_002617.4(PEX10):c.306G>A (p.Leu102=)	PEX10	Single nucleotide variant (non-coding transcript variant +2 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2709931	NM_002617.4(PEX10):c.945T>C (p.Pro315=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2707617	NM_002617.4(PEX10):c.776+15del	PEX10	Deletion (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2707534	NM_002617.4(PEX10):c.194-13C>G	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2701439	NM_002617.4(PEX10):c.450del (p.Thr151fs)	PEX10 (T151fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 2698093	NM_002617.4(PEX10):c.193+20C>A	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2697969	NM_002617.4(PEX10):c.399A>G (p.Pro133=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign
Select item 2694003	NM_002617.4(PEX10):c.601-66T>G	PEX10	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group 7	GLikely benign

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