ClinVar for Gene (Select 79947) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 560

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366967	NM_205861.3(DHDDS):c.766-3C>T	DHDDS (Q256*)	Single nucleotide variant (nonsense +1 more)	Developmental delay and seizures with or without movement abnormalities	GUncertain significance
Select item 3366593	NM_205861.3(DHDDS):c.283G>A (p.Asp95Asn)	DHDDS (D2N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3361226	NM_205861.3(DHDDS):c.750C>G (p.Asn250Lys)	DHDDS (N157K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3256789	NM_205861.3(DHDDS):c.102C>A (p.Asp34Glu)	DHDDS (D34E)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GLikely pathogenic
Select item 3247807	NC_000001.10:g.(?_26759437)_(26774171_?)del	DHDDS	Deletion	Retinitis pigmentosa 59	GPathogenic
Select item 3241316	NM_205861.3(DHDDS):c.324-1G>T	DHDDS	Single nucleotide variant (splice acceptor variant +1 more)	Retinitis pigmentosa 59	GLikely pathogenic
Select item 3234602	NM_205861.3(DHDDS):c.658-6T>A	DHDDS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3082011	NM_205861.3(DHDDS):c.306C>A (p.Ser102Arg)	DHDDS (S102R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3028695	NM_205861.3(DHDDS):c.969C>A (p.Asp323Glu)	DHDDS (D230E +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028679	NM_205861.3(DHDDS):c.736C>T (p.Gln246Ter)	DHDDS (Q153* +3 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3028672	NM_205861.3(DHDDS):c.684A>C (p.Gln228His)	DHDDS (Q135H +3 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028668	NM_205861.3(DHDDS):c.494C>T (p.Ala165Val)	DHDDS (A126V +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028656	NM_205861.3(DHDDS):c.170A>G (p.Lys57Arg)	DHDDS (K57R)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3023655	NM_205861.3(DHDDS):c.658-12T>G	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 3018657	NM_205861.3(DHDDS):c.171G>A (p.Lys57=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 3017048	NM_205861.3(DHDDS):c.180+15C>T	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 3011916	NM_205861.3(DHDDS):c.180+9G>A	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 3009008	NM_205861.3(DHDDS):c.510C>T (p.Ala170=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 3007141	NM_205861.3(DHDDS):c.125A>G (p.Lys42Arg)	DHDDS (K42R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 3004968	NM_205861.3(DHDDS):c.514G>C (p.Gly172Arg)	DHDDS (G79R +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 3002598	NM_205861.3(DHDDS):c.658-19T>C	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 3000922	NM_205861.3(DHDDS):c.64-11C>T	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2995939	NM_205861.3(DHDDS):c.94A>G (p.Ile32Val)	DHDDS (I32V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 2989138	NM_205861.3(DHDDS):c.765+19C>T	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2987869	NM_205861.3(DHDDS):c.532T>C (p.Leu178=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2983556	NM_205861.3(DHDDS):c.756C>A (p.Ser252Arg)	DHDDS (S213R +3 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 59	GUncertain significance
Select item 2979180	NM_205861.3(DHDDS):c.257C>G (p.Ser86Cys)	DHDDS (S86C)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 2978691	NM_205861.3(DHDDS):c.363G>A (p.Leu121=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2973785	NM_205861.3(DHDDS):c.939C>T (p.Phe313=)	DHDDS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2966718	NM_205861.3(DHDDS):c.615G>T (p.Arg205=)	DHDDS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2955232	NM_205861.3(DHDDS):c.63+6C>T	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GUncertain significance
Select item 2913728	NM_205861.3(DHDDS):c.502G>C (p.Glu168Gln)	DHDDS (E75Q +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59 +1 more	GUncertain significance
Select item 2905977	NM_205861.3(DHDDS):c.155C>T (p.Ser52Leu)	DHDDS (S52L)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 2901463	NM_205861.3(DHDDS):c.962G>C (p.Arg321Pro)	DHDDS (R282P +4 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 59	GUncertain significance
Select item 2900129	NM_205861.3(DHDDS):c.63+18G>A	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2898053	NM_205861.3(DHDDS):c.658-20C>G	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2897453	NM_205861.3(DHDDS):c.816G>A (p.Arg272=)	DHDDS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2896483	NM_205861.3(DHDDS):c.501A>G (p.Arg167=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2894869	NM_205861.3(DHDDS):c.766-20T>C	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2885033	NM_205861.3(DHDDS):c.531G>T (p.Leu177=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2881458	NM_205861.3(DHDDS):c.542+18G>A	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2865777	NM_205861.3(DHDDS):c.933A>G (p.Gln311=)	DHDDS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2864888	NM_205861.3(DHDDS):c.207C>T (p.Gly69=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2863625	NM_205861.3(DHDDS):c.441-12_441-10del	DHDDS	Microsatellite (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2859905	NM_205861.3(DHDDS):c.12C>T (p.Ile4=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2859280	NM_205861.3(DHDDS):c.869G>C (p.Gly290Ala)	DHDDS (G251A +4 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 59	GUncertain significance
Select item 2859120	NM_205861.3(DHDDS):c.103G>C (p.Gly35Arg)	DHDDS (G35R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 2855965	NM_205861.3(DHDDS):c.440+7T>G	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2855147	NM_205861.3(DHDDS):c.181-17G>A	DHDDS	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2850956	NM_205861.3(DHDDS):c.180+19G>A	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2848692	NM_205861.3(DHDDS):c.765+8A>G	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2845665	NM_205861.3(DHDDS):c.766-8T>C	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2845440	NM_205861.3(DHDDS):c.898C>A (p.His300Asn)	DHDDS (H261N +4 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 59	GUncertain significance
Select item 2841567	NM_205861.3(DHDDS):c.423C>A (p.Ala141=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2839221	NM_205861.3(DHDDS):c.857T>C (p.Leu286Pro)	DHDDS (L287P +4 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 59	GUncertain significance
Select item 2837675	NM_205861.3(DHDDS):c.658-11A>C	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2837640	NM_205861.3(DHDDS):c.543-3T>C	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GUncertain significance
Select item 2836308	NM_205861.3(DHDDS):c.657+1G>A	DHDDS	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 59	GLikely pathogenic
Select item 2833655	NM_205861.3(DHDDS):c.324-18C>T	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2829410	NM_205861.3(DHDDS):c.64-6C>T	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2829364	NM_205861.3(DHDDS):c.842T>C (p.Leu281Pro)	DHDDS (L188P +4 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 59	GUncertain significance
Select item 2828219	NM_205861.3(DHDDS):c.733C>T (p.Leu245=)	DHDDS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2825431	NM_205861.3(DHDDS):c.64-19T>G	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2822705	NM_205861.3(DHDDS):c.542+11T>C	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GUncertain significance
Select item 2819952	NM_205861.3(DHDDS):c.56T>G (p.Ile19Ser)	DHDDS (I19S)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 2819776	NM_205861.3(DHDDS):c.660C>A (p.Thr220=)	DHDDS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2817352	NM_205861.3(DHDDS):c.120C>G (p.Ala40=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2815825	NM_205861.3(DHDDS):c.732C>T (p.Ile244=)	DHDDS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2815735	NM_205861.3(DHDDS):c.441-16_441-15del	DHDDS	Microsatellite (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2815104	NM_205861.3(DHDDS):c.571T>C (p.Cys191Arg)	DHDDS (C157R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2814659	NM_205861.3(DHDDS):c.110G>T (p.Arg37Leu)	DHDDS (R37L)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 2814409	NM_205861.3(DHDDS):c.691C>T (p.Leu231=)	DHDDS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2810436	NM_205861.3(DHDDS):c.699A>G (p.Pro233=)	DHDDS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2803224	NM_205861.3(DHDDS):c.658-12T>C	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2803031	NM_205861.3(DHDDS):c.357G>A (p.Arg119=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2801914	NM_205861.3(DHDDS):c.543-5C>G	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2801843	NM_205861.3(DHDDS):c.324-9C>T	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2800591	NM_205861.3(DHDDS):c.765+9G>C	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2794654	NM_205861.3(DHDDS):c.853G>A (p.Gly285Arg)	DHDDS (G246R +4 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 59	GUncertain significance
Select item 2781296	NM_205861.3(DHDDS):c.543-11G>T	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2778825	NM_205861.3(DHDDS):c.328A>G (p.Lys110Glu)	DHDDS (K17E +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 2778534	NM_205861.3(DHDDS):c.909G>C (p.Ser303=)	DHDDS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2776197	NM_205861.3(DHDDS):c.336G>A (p.Gln112=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2769584	NM_205861.3(DHDDS):c.324-9C>A	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2766852	NM_205861.3(DHDDS):c.144G>A (p.Gln48=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2762104	NM_205861.3(DHDDS):c.44T>A (p.Phe15Tyr)	DHDDS (F15Y)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 2760616	NM_205861.3(DHDDS):c.657+17T>C	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2759849	NM_205861.3(DHDDS):c.323+7T>G	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2757393	NM_205861.3(DHDDS):c.657+8A>G	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2757388	NM_205861.3(DHDDS):c.658-17C>T	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2755952	NM_205861.3(DHDDS):c.141G>A (p.Arg47=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2754552	NM_205861.3(DHDDS):c.310T>C (p.Leu104=)	DHDDS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2753701	NM_205861.3(DHDDS):c.40C>A (p.Arg14=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2753367	NM_205861.3(DHDDS):c.846G>C (p.Leu282=)	DHDDS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2753008	NM_205861.3(DHDDS):c.543-10C>G	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2752381	NM_205861.3(DHDDS):c.441-14T>G	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2751521	NM_205861.3(DHDDS):c.543-11G>C	DHDDS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2750916	NM_205861.3(DHDDS):c.435C>T (p.Tyr145=)	DHDDS	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 59	GLikely benign
Select item 2750886	NM_205861.3(DHDDS):c.783T>C (p.Tyr261=)	DHDDS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 59	GLikely benign
Select item 2749165	NM_205861.3(DHDDS):c.559C>G (p.Leu187Val)	DHDDS (L94V +3 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 59	GUncertain significance

<< First< Prev

Page of 6