ClinVar for Gene (Select 6017) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 428

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366848	NM_000326.5(RLBP1):c.700C>G (p.Arg234Gly)	RLBP1 (R234G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336024	NM_000326.5(RLBP1):c.684+3G>A	RLBP1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3243856	NC_000015.9:g.(?_89753516)_(89755152_?)del	RLBP1	Deletion	not provided	GPathogenic
Select item 3243685	NC_000015.9:g.(?_89379429)_(91312836_?)del	ABHD2, ACAN +29 more	Deletion	D-2-hydroxyglutaric aciduria 2 +1 more	GConflicting classifications of pathogenicity
Select item 3154722	NM_000326.5(RLBP1):c.204G>C (p.Glu68Asp)	RLBP1 (E68D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065593	NM_000326.5(RLBP1):c.203del (p.Glu68fs)	RLBP1 (E68fs)	Deletion (frameshift variant)	Bothnia retinal dystrophy	GLikely pathogenic
Select item 3064717	NM_000326.5(RLBP1):c.467G>A (p.Arg156Gln)	RLBP1 (R156Q)	Single nucleotide variant (missense variant)	Bothnia retinal dystrophy	GUncertain significance
Select item 3064481	NM_000326.5(RLBP1):c.341T>C (p.Leu114Pro)	RLBP1 (L114P)	Single nucleotide variant (missense variant)	Bothnia retinal dystrophy	GLikely pathogenic
Select item 3028322	NM_000326.5(RLBP1):c.42G>T (p.Glu14Asp)	RLBP1 (E14D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028321	NM_000326.5(RLBP1):c.55C>T (p.Arg19Cys)	RLBP1 (R19C)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028320	NM_000326.5(RLBP1):c.259A>T (p.Arg87Trp)	RLBP1 (R87W)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028319	NM_000326.5(RLBP1):c.410G>A (p.Arg137His)	RLBP1 (R137H)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028318	NM_000326.5(RLBP1):c.841G>A (p.Asp281Asn)	RLBP1 (D281N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3014658	NM_000326.5(RLBP1):c.900C>T (p.Ala300=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013968	NM_000326.5(RLBP1):c.249C>T (p.Ala83=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010681	NM_000326.5(RLBP1):c.321G>A (p.Val107=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003660	NM_000326.5(RLBP1):c.231G>A (p.Gly77=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003620	NM_000326.5(RLBP1):c.456C>T (p.Asp152=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998951	NM_000326.5(RLBP1):c.381C>T (p.Leu127=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995933	NM_000326.5(RLBP1):c.163del (p.Arg55fs)	RLBP1 (R55fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2990597	NM_000326.5(RLBP1):c.396C>A (p.Ser132=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988675	NM_000326.5(RLBP1):c.525+7G>T	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987301	NM_000326.5(RLBP1):c.525+15G>A	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985170	NM_000326.5(RLBP1):c.795+8C>T	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984068	NM_000326.5(RLBP1):c.282C>A (p.Gly94=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977303	NM_000326.5(RLBP1):c.84G>A (p.Lys28=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975786	NM_000326.5(RLBP1):c.347-12T>C	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974909	NM_000326.5(RLBP1):c.249C>G (p.Ala83=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973541	NM_000326.5(RLBP1):c.462T>C (p.Tyr154=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973016	NM_000326.5(RLBP1):c.525+11del	RLBP1	Deletion (intron variant)	not provided	GBenign
Select item 2972776	NM_000326.5(RLBP1):c.346+2T>G	RLBP1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2972023	NM_000326.5(RLBP1):c.796-7C>T	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971097	NM_000326.5(RLBP1):c.729G>A (p.Gln243=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970435	NM_000326.5(RLBP1):c.141+16G>C	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969703	NM_000326.5(RLBP1):c.399A>C (p.Pro133=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968911	NM_000326.5(RLBP1):c.120G>T (p.Leu40=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911208	NM_000326.5(RLBP1):c.90T>C (p.His30=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904032	NM_000326.5(RLBP1):c.796-9T>C	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903496	NM_000326.5(RLBP1):c.832C>T (p.Gln278Ter)	RLBP1 (Q278*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2893728	NM_000326.5(RLBP1):c.171G>A (p.Glu57=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881579	NM_000326.5(RLBP1):c.318C>T (p.Asn106=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879391	NM_000326.5(RLBP1):c.921C>A (p.Gly307=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876674	NM_000326.5(RLBP1):c.505C>T (p.Gln169Ter)	RLBP1 (Q169*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2874588	NM_000326.5(RLBP1):c.909G>A (p.Glu303=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874090	NM_000326.5(RLBP1):c.897G>A (p.Lys299=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873431	NM_000326.5(RLBP1):c.446_447del (p.Leu148_Ser149insTer)	RLBP1	Microsatellite (nonsense)	not provided	GPathogenic
Select item 2872264	NM_000326.5(RLBP1):c.159C>T (p.Asn53=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871000	NM_000326.5(RLBP1):c.154C>T (p.Leu52=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865833	NM_000326.5(RLBP1):c.346+18A>G	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863980	NM_000326.5(RLBP1):c.570T>C (p.Asn190=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861745	NM_000326.5(RLBP1):c.61C>T (p.Gln21Ter)	RLBP1 (Q21*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2861111	NM_000326.5(RLBP1):c.796-10T>C	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856906	NM_000326.5(RLBP1):c.559C>T (p.Leu187=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856580	NM_000326.5(RLBP1):c.507A>G (p.Gln169=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848932	NM_000326.5(RLBP1):c.631_638del (p.Gln210_Gln211insTer)	RLBP1	Deletion (nonsense)	not provided	GPathogenic
Select item 2848682	NM_000326.5(RLBP1):c.685-11T>C	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846223	NM_000326.5(RLBP1):c.130_131del (p.Thr44fs)	RLBP1 (T44fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2841984	NM_000326.5(RLBP1):c.775A>G (p.Lys259Glu)	RLBP1 (K259E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835411	NM_000326.5(RLBP1):c.738C>T (p.Tyr246=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834980	NM_000326.5(RLBP1):c.346+19G>C	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834113	NM_000326.5(RLBP1):c.771C>T (p.Phe257=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833429	NM_000326.5(RLBP1):c.526-7G>A	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832038	NM_000326.5(RLBP1):c.525+15G>T	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831978	NM_000326.5(RLBP1):c.141+20G>T	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831163	NM_000326.5(RLBP1):c.333T>A (p.Tyr111Ter)	RLBP1 (Y111*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2830955	NM_000326.5(RLBP1):c.685-16C>T	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830938	NM_000326.5(RLBP1):c.216G>A (p.Ala72=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830461	NM_000326.5(RLBP1):c.264G>A (p.Val88=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827327	NM_000326.5(RLBP1):c.219G>A (p.Gln73=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826630	NM_000326.5(RLBP1):c.684+9T>C	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825503	NM_000326.5(RLBP1):c.840C>T (p.Ile280=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816542	NM_000326.5(RLBP1):c.795+12G>A	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811581	NM_000326.5(RLBP1):c.795+19C>T	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809963	NM_000326.5(RLBP1):c.135G>A (p.Leu45=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809180	NM_000326.5(RLBP1):c.303C>G (p.Arg101=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806637	NM_000326.5(RLBP1):c.13-14C>G	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802642	NM_000326.5(RLBP1):c.714C>T (p.Ile238=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801345	NM_000326.5(RLBP1):c.141+14C>T	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800164	NM_000326.5(RLBP1):c.609C>T (p.Asn203=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798427	NM_000326.5(RLBP1):c.795+8C>A	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797184	NM_000326.5(RLBP1):c.12+12G>A	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796965	NM_000326.5(RLBP1):c.142-8T>C	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796125	NM_000326.5(RLBP1):c.12+9C>G	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795158	NM_000326.5(RLBP1):c.347-13C>T	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793688	NM_000326.5(RLBP1):c.843T>C (p.Asp281=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793624	NM_000326.5(RLBP1):c.5C>G (p.Ser2Ter)	RLBP1 (S2*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2790599	NM_000326.5(RLBP1):c.459G>A (p.Lys153=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785393	NM_000326.5(RLBP1):c.346+20G>A	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782720	NM_000326.5(RLBP1):c.756T>C (p.Asn252=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782412	NM_000326.5(RLBP1):c.142-15C>T	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780728	NM_000326.5(RLBP1):c.270G>A (p.Glu90=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779885	NM_000326.5(RLBP1):c.141+19C>T	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2771123	NM_000326.5(RLBP1):c.347-15C>T	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769329	NM_000326.5(RLBP1):c.735G>A (p.Trp245Ter)	RLBP1 (W245*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2767286	NM_000326.5(RLBP1):c.526-17T>A	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765485	NM_000326.5(RLBP1):c.732A>G (p.Pro244=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2763076	NM_000326.5(RLBP1):c.471G>A (p.Val157=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2760964	NM_000326.5(RLBP1):c.762C>T (p.Val254=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2760923	NM_000326.5(RLBP1):c.180G>A (p.Glu60=)	RLBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755512	NM_000326.5(RLBP1):c.796-4G>A	RLBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 5