ClinVar for Gene (Select 1509) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	PGGHG, PHRF1 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3078755	NM_001909.5(CTSD):c.713A>T (p.Asp238Val)	CTSD (D238V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078754	NM_001909.5(CTSD):c.574G>T (p.Ala192Ser)	CTSD (A192S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030581	NM_001909.5(CTSD):c.897C>A (p.Ser299=)	CTSD	Single nucleotide variant (synonymous variant)	CTSD-related disorder	GLikely benign
Select item 3021033	NM_001909.5(CTSD):c.68+11_68+12del	CTSD	Deletion (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3019320	NM_001909.5(CTSD):c.120G>A (p.Gly40=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3018168	NM_001909.5(CTSD):c.705-15C>T	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3014674	NM_001909.5(CTSD):c.229-8C>T	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3010152	NM_001909.5(CTSD):c.672G>A (p.Val224=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3006011	NM_001909.5(CTSD):c.162G>A (p.Lys54=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2995516	NM_001909.5(CTSD):c.117T>C (p.Val39=)	CTSD, PRADX	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2994636	NM_001909.5(CTSD):c.1071+16G>A	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2994552	NM_001909.5(CTSD):c.1029A>G (p.Gly343=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2985561	NM_001909.5(CTSD):c.457C>T (p.Gln153Ter)	CTSD (Q153*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2983304	NM_001909.5(CTSD):c.472-20G>C	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2965738	NM_001909.5(CTSD):c.1072-11G>A	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2919029	NM_001909.5(CTSD):c.69-19C>T	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2916745	NM_001909.5(CTSD):c.704+9G>T	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2914371	NM_001909.5(CTSD):c.1072-12G>C	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2913964	NM_001909.5(CTSD):c.27C>T (p.Leu9=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2912577	NM_001909.5(CTSD):c.909C>T (p.Gly303=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2909217	NM_001909.5(CTSD):c.69-15A>G	CTSD, PRADX	Single nucleotide variant (intron variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2900135	NM_001909.5(CTSD):c.594C>T (p.Ile198=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2899952	NM_001909.5(CTSD):c.353-8C>G	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2899426	NM_001909.5(CTSD):c.972+10_972+15del	CTSD	Deletion (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2899424	NM_001909.5(CTSD):c.973-18T>G	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2899210	NM_001909.5(CTSD):c.1056G>A (p.Glu352=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2896232	NM_001909.5(CTSD):c.307C>T (p.Leu103=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2894267	NM_001909.5(CTSD):c.585C>T (p.Phe195=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2892594	NM_001909.5(CTSD):c.69-1G>A	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 2890218	NM_001909.5(CTSD):c.12C>T (p.Ser4=)	CTSD, LOC130005119	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2886187	NM_001909.5(CTSD):c.1188G>A (p.Val396=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2885061	NM_001909.5(CTSD):c.309G>T (p.Leu103=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2884501	NM_001909.5(CTSD):c.873G>A (p.Glu291=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2878520	NM_001909.5(CTSD):c.1071+17G>T	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2875999	NM_001909.5(CTSD):c.498C>T (p.Ala166=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2875539	NM_001909.5(CTSD):c.973-13T>C	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2873100	NM_001909.5(CTSD):c.879T>A (p.Ile293=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2863068	NM_001909.5(CTSD):c.972+1G>C	CTSD	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 2860536	NM_001909.5(CTSD):c.114G>A (p.Glu38=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2859938	NM_001909.5(CTSD):c.330C>T (p.Cys110=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2858529	NM_001909.5(CTSD):c.69-17del	CTSD, PRADX	Deletion (intron variant +1 more)	Neuronal ceroid lipofuscinosis	GBenign
Select item 2855302	NM_001909.5(CTSD):c.207G>A (p.Glu69=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2854203	NM_001909.5(CTSD):c.51del (p.Ala18fs)	CTSD (A18fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2852516	NM_001909.5(CTSD):c.165C>T (p.Tyr55=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2850406	NM_001909.5(CTSD):c.741G>C (p.Leu247=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2850390	NM_001909.5(CTSD):c.1128G>C (p.Pro376=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2847451	NM_001909.5(CTSD):c.972+15C>A	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2845616	NM_001909.5(CTSD):c.816C>T (p.Val272=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2845392	NM_001909.5(CTSD):c.718C>T (p.Gln240Ter)	CTSD (Q240*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2844879	NM_001909.5(CTSD):c.390C>T (p.Thr130=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2840415	NM_001909.5(CTSD):c.168C>G (p.Ser56=)	CTSD, PRADX	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2839283	NM_001909.5(CTSD):c.973-15T>C	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2834915	NM_001909.5(CTSD):c.704+10T>C	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2834730	NM_001909.5(CTSD):c.973-12G>C	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2834710	NM_001909.5(CTSD):c.1164C>T (p.Val388=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2833207	NM_001909.5(CTSD):c.704+17C>T	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2832674	NM_001909.5(CTSD):c.21G>C (p.Leu7=)	CTSD, LOC130005119	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2828390	NM_001909.5(CTSD):c.795C>T (p.Thr265=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2827637	NM_001909.5(CTSD):c.894T>G (p.Thr298=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2827251	NM_001909.5(CTSD):c.696C>T (p.Tyr232=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2825785	NM_001909.5(CTSD):c.353-14G>C	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2822644	NM_001909.5(CTSD):c.353-15T>C	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2819428	NM_001909.5(CTSD):c.675_704+1dup	CTSD	Duplication (splice donor variant)	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 2818599	NM_001909.5(CTSD):c.1194C>T (p.Asp398=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2817206	NM_001909.5(CTSD):c.472-6C>A	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2816940	NM_001909.5(CTSD):c.717G>T (p.Ala239=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2816316	NM_001909.5(CTSD):c.177G>A (p.Val59=)	CTSD, PRADX	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2814272	NM_001909.5(CTSD):c.704+19T>C	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2809693	NM_001909.5(CTSD):c.243G>C (p.Gly81=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2808908	NM_001909.5(CTSD):c.972+15C>T	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2803975	NM_001909.5(CTSD):c.804C>T (p.Ala268=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2802961	NM_001909.5(CTSD):c.828-9T>G	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2792280	NM_001909.5(CTSD):c.507G>A (p.Leu169=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2787417	NM_001909.5(CTSD):c.642C>T (p.Val214=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2787154	NM_001909.5(CTSD):c.1017A>T (p.Thr339=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2780965	NM_001909.5(CTSD):c.267C>T (p.Pro89=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2780619	NM_001909.5(CTSD):c.1239G>A (p.Ter413=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2770025	NM_001909.5(CTSD):c.728del (p.Gly243fs)	CTSD (G243fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2769839	NM_001909.5(CTSD):c.973-9C>T	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2767563	NM_001909.5(CTSD):c.827+17G>C	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2765489	NM_001909.5(CTSD):c.420C>T (p.Ile140=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2763775	NM_001909.5(CTSD):c.1164C>G (p.Val388=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2763560	NM_001909.5(CTSD):c.775C>T (p.Leu259=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2761352	NM_001909.5(CTSD):c.853del (p.Leu285fs)	CTSD (L285fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2759154	NM_001909.5(CTSD):c.261G>C (p.Thr87=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2758670	NM_001909.5(CTSD):c.1176C>A (p.Arg392=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2758618	NM_001909.5(CTSD):c.1011G>T (p.Ala337=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2757522	NM_001909.5(CTSD):c.973-20A>G	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2757064	NM_001909.5(CTSD):c.465dup (p.Val156fs)	CTSD (V156fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2756581	NM_001909.5(CTSD):c.972+13G>A	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2755676	NM_001909.5(CTSD):c.828-2A>C	CTSD	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 2754874	NM_001909.5(CTSD):c.973-12G>A	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2748768	NM_001909.5(CTSD):c.369C>T (p.Tyr123=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2748517	NM_001909.5(CTSD):c.352+12A>G	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2747186	NM_001909.5(CTSD):c.489G>T (p.Ala163=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2745744	NM_001909.5(CTSD):c.228+8T>C	CTSD, PRADX	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2744248	NM_001909.5(CTSD):c.264C>T (p.Pro88=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2739133	NM_001909.5(CTSD):c.942C>T (p.Ala314=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2735976	NM_001909.5(CTSD):c.471+17C>A	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign

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