DENND5A[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3039777	NM_015213.4(DENND5A):c.*2C>A	DENND5A	Single nucleotide variant (3 prime UTR variant +1 more)	DENND5A-related disorder	GLikely benign
Select item 2413009	NM_015213.4(DENND5A):c.3856G>A (p.Asp1286Asn)	DENND5A (D1190N +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1989165	NM_015213.4(DENND5A):c.3855C>T (p.Ile1285=)	DENND5A	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1896753	NM_015213.4(DENND5A):c.3837G>A (p.Thr1279=)	DENND5A	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1639050	NM_015213.4(DENND5A):c.3828G>A (p.Thr1276=)	DENND5A	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3271601	NM_015213.4(DENND5A):c.3827C>T (p.Thr1276Met)	DENND5A (T1180M +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 374928	NM_015213.4(DENND5A):c.3811del (p.Gln1271fs)	DENND5A (Q1247fs +2 more)	Deletion (3 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 49	GPathogenic
Select item 2043573	NM_015213.4(DENND5A):c.3801G>A (p.Leu1267=)	DENND5A	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2056654	NM_015213.4(DENND5A):c.3795T>C (p.Arg1265=)	DENND5A	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1909429	NM_015213.4(DENND5A):c.3794G>A (p.Arg1265His)	DENND5A (R1169H +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1984744	NM_015213.4(DENND5A):c.3782A>G (p.Asn1261Ser)	DENND5A (N1165S +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1559956	NM_015213.4(DENND5A):c.3780C>G (p.Val1260=)	DENND5A	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1900393	NM_015213.4(DENND5A):c.3777T>G (p.Leu1259=)	DENND5A	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2223951	NM_015213.4(DENND5A):c.3773C>T (p.Thr1258Ile)	DENND5A (T1162I +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2811390	NM_015213.4(DENND5A):c.3735A>T (p.Ala1245=)	DENND5A (H1234L)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1985701	NM_015213.4(DENND5A):c.3735A>G (p.Ala1245=)	DENND5A (H1234R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2974520	NM_015213.4(DENND5A):c.3708C>T (p.Ala1236=)	DENND5A (P1225L)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2769269	NM_015213.4(DENND5A):c.3696C>T (p.His1232=)	DENND5A (T1221I)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2787414	NM_015213.4(DENND5A):c.3693A>T (p.Leu1231=)	DENND5A (Y1220F)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2814732	NM_015213.4(DENND5A):c.3681-3C>G	DENND5A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2917709	NM_015213.4(DENND5A):c.3681-10G>A	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941078	NM_015213.4(DENND5A):c.3681-11C>T	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005354	NM_015213.4(DENND5A):c.3681-13C>T	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2050590	NM_015213.4(DENND5A):c.3681-14T>C	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2701258	NM_015213.4(DENND5A):c.3681-16G>C	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2077682	NM_015213.4(DENND5A):c.3680+7_3680+112del	DENND5A	Deletion (intron variant)	not provided	GLikely benign
Select item 2101561	NM_015213.4(DENND5A):c.3680+20C>T	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922219	NM_015213.4(DENND5A):c.3680+16G>T	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2124707	NM_015213.4(DENND5A):c.3660dup (p.Leu1221fs)	DENND5A (L1125fs +2 more)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2192598	NM_015213.4(DENND5A):c.3648C>G (p.Gly1216=)	DENND5A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1940209	NM_015213.4(DENND5A):c.3647del (p.Gly1216fs)	DENND5A (G1120fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 1974501	NM_015213.4(DENND5A):c.3633C>T (p.Asn1211=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 375553	NM_015213.4(DENND5A):c.3629G>A (p.Arg1210Gln)	DENND5A (R1210Q +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 49	GLikely pathogenic
Select item 2971285	NM_015213.4(DENND5A):c.3627C>T (p.Pro1209=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2056911	NM_015213.4(DENND5A):c.3609T>A (p.Thr1203=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3271599	NM_015213.4(DENND5A):c.3599G>A (p.Arg1200Gln)	DENND5A (R1176Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532462	NM_015213.4(DENND5A):c.3591C>G (p.Asn1197Lys)	DENND5A (N1197K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2171034	NM_015213.4(DENND5A):c.3565G>A (p.Glu1189Lys)	DENND5A (E1093K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1986992	NM_015213.4(DENND5A):c.3537A>G (p.Thr1179=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2108747	NM_015213.4(DENND5A):c.3523A>G (p.Thr1175Ala)	DENND5A (T1079A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2395940	NM_015213.4(DENND5A):c.3521A>T (p.Gln1174Leu)	DENND5A (Q1078L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2780627	NM_015213.4(DENND5A):c.3512-8C>T	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822055	NM_015213.4(DENND5A):c.3511+16G>A	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2020571	NM_015213.4(DENND5A):c.3498T>C (p.Ile1166=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1982745	NM_015213.4(DENND5A):c.3488del (p.Asn1163fs)	DENND5A (N1139fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 450133	NM_015213.4(DENND5A):c.3475C>T (p.Arg1159Trp)	DENND5A (R1159W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 741225	NM_015213.4(DENND5A):c.3471G>A (p.Ser1157=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1909432	NM_015213.4(DENND5A):c.3459T>C (p.His1153=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2136115	NM_015213.4(DENND5A):c.3457C>A (p.His1153Asn)	DENND5A (H1057N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2049473	NM_015213.4(DENND5A):c.3435G>A (p.Ser1145=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2533616	NM_015213.4(DENND5A):c.3422G>C (p.Cys1141Ser)	DENND5A (C1117S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2901633	NM_015213.4(DENND5A):c.3420G>A (p.Glu1140=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1950767	NM_015213.4(DENND5A):c.3411C>G (p.Leu1137=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1973570	NM_015213.4(DENND5A):c.3402G>A (p.Thr1134=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1948515	NM_015213.4(DENND5A):c.3401C>T (p.Thr1134Met)	DENND5A (T1110M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576577	NM_015213.4(DENND5A):c.3388C>T (p.Arg1130Ter)	DENND5A (R1034* +2 more)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 49	GLikely pathogenic
Select item 2158726	NM_015213.4(DENND5A):c.3388-4G>C	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2074921	NM_015213.4(DENND5A):c.3388-4G>A	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2085603	NM_015213.4(DENND5A):c.3388-5C>T	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857477	NM_015213.4(DENND5A):c.3388-6A>G	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2025631	NM_015213.4(DENND5A):c.3388-11T>G	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925449	NM_015213.4(DENND5A):c.3388-16_3388-15del	DENND5A	Deletion (intron variant)	not provided	GLikely benign
Select item 1911153	NM_015213.4(DENND5A):c.3388-17C>T	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2775895	NM_015213.4(DENND5A):c.3388-19C>G	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3064970	NM_015213.4(DENND5A):c.3387+3G>T	DENND5A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 49	GUncertain significance
Select item 1216523	NM_015213.4(DENND5A):c.3387+1G>T	DENND5A	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1940445	NM_015213.4(DENND5A):c.3370C>T (p.His1124Tyr)	DENND5A (H1100Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901545	NM_015213.4(DENND5A):c.3348C>G (p.Val1116=)	DENND5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2486496	NM_015213.4(DENND5A):c.3343G>T (p.Ala1115Ser)	DENND5A (A1019S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398640	NM_015213.4(DENND5A):c.3340G>C (p.Glu1114Gln)	DENND5A (E1018Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3271602	NM_015213.4(DENND5A):c.3336C>G (p.Ile1112Met)	DENND5A (I1088M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2123527	NM_015213.4(DENND5A):c.3326A>T (p.Gln1109Leu)	DENND5A (Q1109L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1545392	NM_015213.4(DENND5A):c.3312C>T (p.Asn1104=)	DENND5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1661687	NM_015213.4(DENND5A):c.3305-10T>C	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2096567	NM_015213.4(DENND5A):c.3304+16G>A	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790622	NM_015213.4(DENND5A):c.3304+14G>A	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2038775	NM_015213.4(DENND5A):c.3304+9G>A	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932356	NM_015213.4(DENND5A):c.3302C>T (p.Pro1101Leu)	DENND5A (P1005L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1962319	NM_015213.4(DENND5A):c.3297C>T (p.Asn1099=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2079178	NM_015213.4(DENND5A):c.3266T>C (p.Ile1089Thr)	DENND5A (I993T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2072263	NM_015213.4(DENND5A):c.3265A>G (p.Ile1089Val)	DENND5A (I993V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1998455	NM_015213.4(DENND5A):c.3261T>C (p.Ser1087=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2416887	NM_015213.4(DENND5A):c.3243G>A (p.Pro1081=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2316424	NM_015213.4(DENND5A):c.3242C>T (p.Pro1081Leu)	DENND5A (P1081L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2817027	NM_015213.4(DENND5A):c.3237C>A (p.Thr1079=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2136999	NM_015213.4(DENND5A):c.3236C>T (p.Thr1079Ile)	DENND5A (T1055I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1525419	NM_015213.4(DENND5A):c.3233G>A (p.Arg1078Gln)	DENND5A (R1078Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2182862	NM_015213.4(DENND5A):c.3232C>T (p.Arg1078Trp)	DENND5A (R1054W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1976684	NM_015213.4(DENND5A):c.3222G>A (p.Glu1074=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2413232	NM_015213.4(DENND5A):c.3216G>C (p.Val1072=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2008001	NM_015213.4(DENND5A):c.3209C>T (p.Pro1070Leu)	DENND5A (P1070L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2124274	NM_015213.4(DENND5A):c.3136C>T (p.Arg1046Trp)	DENND5A (R1022W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2968303	NM_015213.4(DENND5A):c.3129G>A (p.Pro1043=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2711918	NM_015213.4(DENND5A):c.3126C>T (p.Phe1042=)	DENND5A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1896221	NM_015213.4(DENND5A):c.3123-13G>T	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1948995	NM_015213.4(DENND5A):c.3123-16A>G	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780403	NM_015213.4(DENND5A):c.3123-17C>T	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807377	NM_015213.4(DENND5A):c.3123-19T>A	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2717879	NM_015213.4(DENND5A):c.3123-19T>C	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2760227	NM_015213.4(DENND5A):c.3122+20G>C	DENND5A	Single nucleotide variant (intron variant)	not provided	GLikely benign

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