ClinVar for MedGen (Select 382544) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3576665	NM_152443.3(RDH12):c.680_684delinsT (p.Ala227fs)	GPHN, RDH12 +1 more (A227fs)	Indel (frameshift variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 3576664	NM_152443.3(RDH12):c.661_666delinsCCTCTTT (p.Thr221fs)	GPHN, RDH12 +1 more (T221fs)	Indel (frameshift variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 3576662	NM_152443.3(RDH12):c.16G>T (p.Gly6Ter)	GPHN, RDH12 (G6*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 3390374	NM_152443.3(RDH12):c.693_694insACTGCGTCCGCTCTGAGCTGGC (p.Val232fs)	GPHN, RDH12 +1 more (V232fs)	Insertion (frameshift variant)	Leber congenital amaurosis 13 +1 more	GLikely pathogenic
Select item 3382186	NM_152443.3(RDH12):c.704_710del (p.Ser235fs)	GPHN, RDH12 +1 more (S235fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 3376517	NM_152443.3(RDH12):c.668_669insGTCCCAGGCACCTCTTTGTCCCAGG (p.Thr224fs)	ZFYVE26, GPHN +1 more (T224fs)	Insertion (frameshift variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 3376516	NM_152443.3(RDH12):c.200A>G (p.Tyr67Cys)	GPHN, RDH12 (Y67C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 3244005	NC_000014.8:g.(?_68191277)_(68191485_?)del	RDH12	Deletion	Leber congenital amaurosis 13	GLikely pathogenic
Select item 3244004	NC_000014.8:g.(?_68189360)_(68196117_?)dup	RDH12	Duplication	Leber congenital amaurosis 13	GUncertain significance
Select item 3244003	NC_000014.8:g.(?_68145038)_(68276026_?)dup	RDH11, RDH12 +1 more	Duplication	Leber congenital amaurosis 13	GUncertain significance
Select item 3240301	NM_152443.3(RDH12):c.48_54del (p.Leu15_Tyr16insTer)	GPHN, RDH12	Deletion (nonsense)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 3240300	NM_152443.3(RDH12):c.867G>A (p.Trp289Ter)	GPHN, RDH12 +1 more (W289*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 3240299	NM_152443.3(RDH12):c.594del (p.Phe198fs)	GPHN, RDH12 (F198fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 3067974	NM_152443.3(RDH12):c.917T>G (p.Val306Gly)	GPHN, RDH12 +1 more (V306G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 3023628	NM_152443.3(RDH12):c.344-8C>A	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 3017550	NM_152443.3(RDH12):c.187+20T>C	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 3016854	NM_152443.3(RDH12):c.187+12C>G	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 3016102	NM_152443.3(RDH12):c.659-20T>C	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 3014804	NM_152443.3(RDH12):c.500C>T (p.Pro167Leu)	GPHN, RDH12 (P167L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 3014422	NM_152443.3(RDH12):c.315C>T (p.Ile105=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 3012988	NM_152443.3(RDH12):c.19C>T (p.Leu7=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 3010926	NM_152443.3(RDH12):c.114T>C (p.Pro38=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 3005486	NM_152443.3(RDH12):c.849-16T>A	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2996983	NM_152443.3(RDH12):c.848+17C>T	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2978945	NM_152443.3(RDH12):c.106C>T (p.Gln36Ter)	GPHN, RDH12 (Q36*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 13	GPathogenic
Select item 2978017	NM_152443.3(RDH12):c.444C>A (p.His148Gln)	GPHN, RDH12 (H148Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2970371	NM_152443.3(RDH12):c.848+18G>T	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2966144	NM_152443.3(RDH12):c.344-18T>C	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2960086	NM_152443.3(RDH12):c.448+4_448+7del	GPHN, RDH12	Deletion (splice donor variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2957692	NM_152443.3(RDH12):c.659-14C>T	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2920641	NM_152443.3(RDH12):c.137G>A (p.Gly46Asp)	GPHN, RDH12 (G46D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 2919346	NM_152443.3(RDH12):c.849-11C>G	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2917556	NM_152443.3(RDH12):c.612G>A (p.Lys204=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2916560	NM_152443.3(RDH12):c.849-11C>T	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2916419	NM_152443.3(RDH12):c.849-13del	GPHN, RDH12 +1 more	Deletion (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2911777	NM_152443.3(RDH12):c.98C>T (p.Thr33Ile)	GPHN, RDH12 (T33I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2910355	NM_152443.3(RDH12):c.343+1G>A	GPHN, RDH12	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 13	GPathogenic
Select item 2909666	NM_152443.3(RDH12):c.126G>A (p.Val42=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2907059	NM_152443.3(RDH12):c.102T>C (p.Asn34=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2903925	NM_152443.3(RDH12):c.711G>A (p.Leu237=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GLikely benign
Select item 2903258	NM_152443.3(RDH12):c.188-11C>T	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2894470	NM_152443.3(RDH12):c.449-11T>C	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2892832	NM_152443.3(RDH12):c.449-7C>T	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2892487	NM_152443.3(RDH12):c.174G>A (p.Glu58=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2891495	NM_152443.3(RDH12):c.320C>G (p.Ala107Gly)	GPHN, RDH12 (A107G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2889829	NM_152443.3(RDH12):c.659-11_659-10del	GPHN, RDH12 +1 more	Microsatellite (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2887602	NM_152443.3(RDH12):c.219A>G (p.Val73=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2883750	NM_152443.3(RDH12):c.333C>T (p.Gly111=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2880964	NM_152443.3(RDH12):c.825G>C (p.Glu275Asp)	GPHN, RDH12 +1 more (E275D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2879911	NM_152443.3(RDH12):c.664G>T (p.Gly222Trp)	GPHN, RDH12 +1 more (G222W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2877204	NM_152443.3(RDH12):c.192C>T (p.Ala64=)	RDH12, GPHN	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2866260	NM_152443.3(RDH12):c.663C>A (p.Thr221=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2866252	NM_152443.3(RDH12):c.216_219del (p.Asp72_Val73insTer)	GPHN, RDH12	Deletion (frameshift variant)	Leber congenital amaurosis 13	GPathogenic
Select item 2865813	NM_152443.3(RDH12):c.849-10T>C	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2864792	NM_152443.3(RDH12):c.168C>T (p.Ala56=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2864208	NM_152443.3(RDH12):c.696C>G (p.Val232=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2856969	NM_152443.3(RDH12):c.189del (p.Ala64fs)	GPHN, RDH12 (A64fs)	Deletion (frameshift variant)	Leber congenital amaurosis +1 more	GPathogenic
Select item 2856171	NM_152443.3(RDH12):c.699C>T (p.Val233=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2854874	NM_152443.3(RDH12):c.15_29dup (p.Ser10_Phe11insGlyLeuLeuThrSer)	GPHN, RDH12	Duplication (inframe_insertion)	Leber congenital amaurosis 13	GUncertain significance
Select item 2854517	NM_152443.3(RDH12):c.68+16G>A	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2852211	NM_152443.3(RDH12):c.942G>C (p.Arg314=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2849409	NM_152443.3(RDH12):c.9C>T (p.Val3=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2847098	NM_152443.3(RDH12):c.68+12T>C	RDH12, GPHN	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2847073	NM_152443.3(RDH12):c.429C>T (p.His143=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2845662	NM_152443.3(RDH12):c.187+10T>G	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2841255	NM_152443.3(RDH12):c.579C>A (p.Arg193=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2840727	NM_152443.3(RDH12):c.364C>T (p.Leu122=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2838543	NM_152443.3(RDH12):c.337C>T (p.Leu113=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2837851	NM_152443.3(RDH12):c.43C>T (p.Leu15=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2836160	NM_152443.3(RDH12):c.848+19del	GPHN, RDH12 +1 more	Deletion (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2833365	NM_152443.3(RDH12):c.141C>T (p.Ala47=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2831464	NM_152443.3(RDH12):c.659-7G>C	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2829341	NM_152443.3(RDH12):c.90G>A (p.Val30=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2822187	NM_152443.3(RDH12):c.659-16G>A	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2822154	NM_152443.3(RDH12):c.295C>T (p.Leu99=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2819879	NM_152443.3(RDH12):c.750C>T (p.Leu250=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2819003	NM_152443.3(RDH12):c.843C>G (p.Tyr281Ter)	GPHN, RDH12 +1 more (Y281*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 13	GPathogenic
Select item 2809848	NM_152443.3(RDH12):c.230A>G (p.Glu77Gly)	GPHN, RDH12 (E77G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2808323	NM_152443.3(RDH12):c.187+16T>C	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2796529	NM_152443.3(RDH12):c.273G>A (p.Gln91=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2783364	NM_152443.3(RDH12):c.6G>A (p.Leu2=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2780369	NM_152443.3(RDH12):c.235G>C (p.Ala79Pro)	GPHN, RDH12 (A79P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2777428	NM_152443.3(RDH12):c.848+7G>T	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2775588	NM_152443.3(RDH12):c.658+18G>A	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2769172	NM_152443.3(RDH12):c.906C>T (p.Arg302=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2768162	NM_152443.3(RDH12):c.848+9A>C	GPHN, RDH12 +1 more	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2763065	NM_152443.3(RDH12):c.188-5C>T	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2762319	NM_152443.3(RDH12):c.796del (p.Leu266fs)	GPHN, RDH12 +1 more (L266fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13	GPathogenic
Select item 2759023	NM_152443.3(RDH12):c.211A>C (p.Arg71=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2756604	NM_152443.3(RDH12):c.471G>A (p.Leu157=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2755988	NM_152443.3(RDH12):c.69-17G>C	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2754660	NM_152443.3(RDH12):c.227G>T (p.Gly76Val)	GPHN, RDH12 (G76V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GUncertain significance
Select item 2754229	NM_152443.3(RDH12):c.187+3_187+8dup	GPHN, RDH12	Duplication (splice donor variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2749295	NM_152443.3(RDH12):c.471G>C (p.Leu157=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2743829	NM_152443.3(RDH12):c.237T>G (p.Ala79=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2743595	NM_152443.3(RDH12):c.68+8T>C	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2743303	NM_152443.3(RDH12):c.98del (p.Thr33fs)	GPHN, RDH12 (T33fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13	GPathogenic
Select item 2742597	NM_152443.3(RDH12):c.69-18T>C	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2741131	NM_152443.3(RDH12):c.658+16G>A	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2740003	NM_152443.3(RDH12):c.69-19_69-18del	GPHN, RDH12	Deletion (intron variant)	Leber congenital amaurosis 13	GLikely benign

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