ClinVar for Gene (Select 79641) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315028	NM_024589.3(ROGDI):c.166G>T (p.Ala56Ser)	ROGDI (A56S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3315027	NM_024589.3(ROGDI):c.206A>T (p.Asp69Val)	ROGDI (D69V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243368	NC_000016.10:g.(?_4797440)_(4802591_?)del	ROGDI	Deletion	Amelocerebrohypohidrotic syndrome	GPathogenic
Select item 3047846	NM_024589.3(ROGDI):c.46-27G>A	ROGDI	Single nucleotide variant (intron variant)	ROGDI-related disorder	GLikely benign
Select item 3045869	NM_024589.3(ROGDI):c.46-33_46-31dup	ROGDI	Duplication (intron variant)	ROGDI-related disorder	GLikely benign
Select item 3035792	NM_024589.3(ROGDI):c.318G>A (p.Lys106=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	ROGDI-related disorder	GLikely benign
Select item 3017876	NM_024589.3(ROGDI):c.201-17G>A	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 3000675	NM_024589.3(ROGDI):c.-3_45+8del	ROGDI	Deletion (splice donor variant +1 more)	Amelocerebrohypohidrotic syndrome	GPathogenic
Select item 2977597	NM_024589.3(ROGDI):c.823-20A>G	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2967208	NM_024589.3(ROGDI):c.255+13G>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2965094	NM_024589.3(ROGDI):c.45+14G>A	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2960989	NM_024589.3(ROGDI):c.646-16G>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2960116	NM_024589.3(ROGDI):c.111C>T (p.Ile37=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2918318	NM_024589.3(ROGDI):c.255+20C>G	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2916647	NM_024589.3(ROGDI):c.531+11C>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2916564	NM_024589.3(ROGDI):c.336+13C>G	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2912225	NM_024589.3(ROGDI):c.152dup (p.Thr52fs)	ROGDI (T52fs)	Duplication (frameshift variant +1 more)	Amelocerebrohypohidrotic syndrome	GPathogenic
Select item 2906485	NM_024589.3(ROGDI):c.46-15G>A	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2904715	NM_024589.3(ROGDI):c.118-13C>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2899506	NM_024589.3(ROGDI):c.256-29_256-13dup	ROGDI	Duplication (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2892095	NM_024589.3(ROGDI):c.822+19C>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2882952	NM_024589.3(ROGDI):c.117+9C>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2871016	NM_024589.3(ROGDI):c.331C>T (p.Gln111Ter)	ROGDI (Q111*)	Single nucleotide variant (nonsense +1 more)	Amelocerebrohypohidrotic syndrome	GPathogenic
Select item 2869016	NM_024589.3(ROGDI):c.132C>G (p.Arg44=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2867628	NM_024589.3(ROGDI):c.118-20T>C	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2856729	NM_024589.3(ROGDI):c.696-18C>A	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2855686	NM_024589.3(ROGDI):c.823-19G>C	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2852909	NM_024589.3(ROGDI):c.34C>A (p.Arg12=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2824200	NM_024589.3(ROGDI):c.597C>T (p.Leu199=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2820702	NM_024589.3(ROGDI):c.118-2A>C	ROGDI	Single nucleotide variant (splice acceptor variant)	Amelocerebrohypohidrotic syndrome	GLikely pathogenic
Select item 2820517	NM_024589.3(ROGDI):c.432+12C>A	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2819379	NM_024589.3(ROGDI):c.75C>T (p.Asp25=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2819353	NM_024589.3(ROGDI):c.822+13C>G	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2808956	NM_024589.3(ROGDI):c.336+12C>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2799814	NM_024589.3(ROGDI):c.117+11G>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2796584	NM_024589.3(ROGDI):c.433-13C>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2790905	NM_024589.3(ROGDI):c.46-18G>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2788368	NM_024589.3(ROGDI):c.9C>T (p.Thr3=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2787794	NM_024589.3(ROGDI):c.18A>G (p.Ala6=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2777227	NM_024589.3(ROGDI):c.309G>A (p.Arg103=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2769735	NM_024589.3(ROGDI):c.695+13G>A	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2769245	NM_024589.3(ROGDI):c.531+14C>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2763197	NM_024589.3(ROGDI):c.237G>C (p.Gly79=)	ROGDI	Single nucleotide variant (synonymous variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2761763	NM_024589.3(ROGDI):c.645+15C>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2743197	NM_024589.3(ROGDI):c.762C>A (p.Leu254=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2739093	NM_024589.3(ROGDI):c.45+17A>G	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2730072	NM_024589.3(ROGDI):c.562C>T (p.Leu188=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2713550	NM_024589.3(ROGDI):c.46-7C>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2702070	NM_024589.3(ROGDI):c.255+20C>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2698236	NM_024589.3(ROGDI):c.789C>A (p.Val263=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2684779	GRCh37/hg19 16p13.3(chr16:4462897-5172225)x3	ALG1, ANKS3 +22 more	Copy number gain	not provided	GUncertain significance
Select item 2646160	NM_024589.3(ROGDI):c.255+22C>T	ROGDI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2646159	NM_024589.3(ROGDI):c.*116C>T	ROGDI	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2585558	NM_024589.3(ROGDI):c.646-2_649del	ROGDI	Deletion (splice acceptor variant)	Amelocerebrohypohidrotic syndrome	GLikely pathogenic
Select item 2500078	NM_024589.3(ROGDI):c.586C>T (p.Leu196Phe)	ROGDI (L196F)	Single nucleotide variant (missense variant +1 more)	Amelocerebrohypohidrotic syndrome	GUncertain significance
Select item 2488977	NM_024589.3(ROGDI):c.16G>T (p.Ala6Ser)	ROGDI (A6S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476063	NM_024589.3(ROGDI):c.805C>A (p.Gln269Lys)	ROGDI (Q269K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2435455	NM_024589.3(ROGDI):c.531+5G>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GUncertain significance
Select item 2426839	NC_000016.9:g.(?_4847919)_(4852572_?)dup	ROGDI	Duplication	Amelocerebrohypohidrotic syndrome	GUncertain significance
Select item 2425098	NC_000016.9:g.(?_3293141)_(5971108_?)dup	C16orf89, ADCY9 +45 more	Duplication	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2421976	NM_024589.3(ROGDI):c.337-11C>A	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2421975	NM_024589.3(ROGDI):c.386G>A (p.Ser129Asn)	ROGDI (S129N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2420762	NM_024589.3(ROGDI):c.325A>G (p.Lys109Glu)	ROGDI (K109E)	Single nucleotide variant (missense variant +1 more)	Amelocerebrohypohidrotic syndrome	GUncertain significance
Select item 2420197	NM_024589.3(ROGDI):c.486C>T (p.Thr162=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2418878	NM_024589.3(ROGDI):c.296A>G (p.His99Arg)	ROGDI (H99R)	Single nucleotide variant (missense variant +1 more)	Amelocerebrohypohidrotic syndrome	GUncertain significance
Select item 2317412	NM_024589.3(ROGDI):c.469C>G (p.Arg157Gly)	ROGDI (R157G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262874	NM_024589.3(ROGDI):c.236G>A (p.Gly79Glu)	ROGDI (G79E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238604	NM_024589.3(ROGDI):c.31G>A (p.Glu11Lys)	ROGDI (E11K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203067	NM_024589.3(ROGDI):c.696-20G>A	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2199857	NM_024589.3(ROGDI):c.532C>T (p.Arg178Trp)	ROGDI (R178W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2199846	NM_024589.3(ROGDI):c.823-3C>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GUncertain significance
Select item 2198819	NM_024589.3(ROGDI):c.118-14C>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2197463	NM_024589.3(ROGDI):c.336+13C>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2195850	NM_024589.3(ROGDI):c.637T>G (p.Ser213Ala)	ROGDI (S213A)	Single nucleotide variant (missense variant +1 more)	Amelocerebrohypohidrotic syndrome	GUncertain significance
Select item 2195069	NM_024589.3(ROGDI):c.532-11G>A	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2192825	NM_024589.3(ROGDI):c.595C>T (p.Leu199Phe)	ROGDI (L199F)	Single nucleotide variant (missense variant +1 more)	Amelocerebrohypohidrotic syndrome	GUncertain significance
Select item 2192068	NM_024589.3(ROGDI):c.433-8C>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2190575	NM_024589.3(ROGDI):c.205G>T (p.Asp69Tyr)	ROGDI (D69Y)	Single nucleotide variant (missense variant)	Amelocerebrohypohidrotic syndrome	GUncertain significance
Select item 2187530	NM_024589.3(ROGDI):c.677A>G (p.His226Arg)	ROGDI (H226R)	Single nucleotide variant (missense variant +1 more)	Amelocerebrohypohidrotic syndrome	GUncertain significance
Select item 2170226	NM_024589.3(ROGDI):c.336+8C>A	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2164515	NM_024589.3(ROGDI):c.844T>C (p.Trp282Arg)	ROGDI (W282R)	Single nucleotide variant (missense variant +1 more)	Amelocerebrohypohidrotic syndrome	GUncertain significance
Select item 2162130	NM_024589.3(ROGDI):c.735C>T (p.His245=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2160525	NM_024589.3(ROGDI):c.433-18C>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2158488	NM_024589.3(ROGDI):c.696-10C>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2155405	NM_024589.3(ROGDI):c.337-15G>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2150886	NM_024589.3(ROGDI):c.256-11T>C	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2150231	NM_024589.3(ROGDI):c.645+13C>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2145283	NM_024589.3(ROGDI):c.86C>G (p.Ala29Gly)	ROGDI (A29G)	Single nucleotide variant (missense variant +1 more)	Amelocerebrohypohidrotic syndrome	GUncertain significance
Select item 2142069	NM_024589.3(ROGDI):c.201-9A>G	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2141265	NM_024589.3(ROGDI):c.231G>T (p.Leu77=)	ROGDI	Single nucleotide variant (synonymous variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2136460	NM_024589.3(ROGDI):c.695+17G>C	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2134926	NM_024589.3(ROGDI):c.575T>A (p.Val192Asp)	ROGDI (V192D)	Single nucleotide variant (missense variant +1 more)	Amelocerebrohypohidrotic syndrome	GUncertain significance
Select item 2126989	NM_024589.3(ROGDI):c.222G>C (p.Val74=)	ROGDI	Single nucleotide variant (synonymous variant)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2124049	NM_024589.3(ROGDI):c.158A>G (p.Glu53Gly)	ROGDI (E53G)	Single nucleotide variant (missense variant +1 more)	Amelocerebrohypohidrotic syndrome	GUncertain significance
Select item 2122832	NM_024589.3(ROGDI):c.278G>A (p.Arg93Gln)	ROGDI (R93Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2119489	NM_024589.3(ROGDI):c.195C>G (p.Ser65Arg)	ROGDI (S65R)	Single nucleotide variant (missense variant +1 more)	Amelocerebrohypohidrotic syndrome	GUncertain significance
Select item 2116820	NM_024589.3(ROGDI):c.562C>G (p.Leu188Val)	ROGDI (L188V)	Single nucleotide variant (missense variant +1 more)	Amelocerebrohypohidrotic syndrome	GUncertain significance
Select item 2115619	NM_024589.3(ROGDI):c.525C>T (p.Gly175=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	Amelocerebrohypohidrotic syndrome	GLikely benign
Select item 2114032	NM_024589.3(ROGDI):c.309G>C (p.Arg103=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	Amelocerebrohypohidrotic syndrome	GLikely benign

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