ClinVar for Gene (Select 79961) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3081568	NM_024901.5(DENND2D):c.29T>G (p.Phe10Cys)	DENND2D, LOC129931164 (F10C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081567	NM_024901.5(DENND2D):c.284G>A (p.Arg95Gln)	DENND2D (R95Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081566	NM_024901.5(DENND2D):c.244C>T (p.Arg82Trp)	DENND2D (R79W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081565	NM_024901.5(DENND2D):c.173T>C (p.Leu58Pro)	DENND2D (L55P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081564	NM_024901.5(DENND2D):c.1322G>C (p.Ser441Thr)	DENND2D, LOC126805826 (S438T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081563	NM_024901.5(DENND2D):c.1193C>A (p.Ala398Glu)	DENND2D, LOC126805826 (A398E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 3062733	GRCh37/hg19 1p13.3-13.2(chr1:111277065-111804157)x1	CD53, CEPT1 +4 more	Copy number loss	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2615020	NM_024901.5(DENND2D):c.32G>A (p.Arg11Lys)	DENND2D, LOC129931164 (R11K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594384	NM_024901.5(DENND2D):c.1220G>T (p.Arg407Ile)	DENND2D, LOC126805826 (R404I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592174	NM_024901.5(DENND2D):c.260G>A (p.Arg87Gln)	DENND2D (R84Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589245	NM_024901.5(DENND2D):c.1117G>A (p.Glu373Lys)	DENND2D, LOC126805826 (E370K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557417	NM_024901.5(DENND2D):c.418C>T (p.Arg140Cys)	DENND2D (R140C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518650	NM_024901.5(DENND2D):c.1097A>G (p.Lys366Arg)	DENND2D (K363R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477405	NM_024901.5(DENND2D):c.77A>C (p.Gln26Pro)	DENND2D (Q26P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465553	NM_024901.5(DENND2D):c.445C>T (p.Arg149Cys)	DENND2D (R149C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456406	NM_024901.5(DENND2D):c.1072C>T (p.Leu358Phe)	DENND2D (L355F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	ADORA3, AP4B1 +34 more	Deletion	not provided	GPathogenic
Select item 2412057	NM_024901.5(DENND2D):c.283C>T (p.Arg95Trp)	DENND2D (R95W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405866	NM_024901.5(DENND2D):c.271G>C (p.Glu91Gln)	DENND2D (E88Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361977	NM_024901.5(DENND2D):c.259C>T (p.Arg87Trp)	DENND2D (R87W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346844	NM_024901.5(DENND2D):c.214G>A (p.Glu72Lys)	DENND2D (E72K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326727	NM_024901.5(DENND2D):c.434G>T (p.Gly145Val)	DENND2D (G142V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307881	NM_024901.5(DENND2D):c.232C>A (p.Gln78Lys)	DENND2D (Q78K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280154	NM_024901.5(DENND2D):c.73C>G (p.Pro25Ala)	DENND2D (P25A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264378	NM_024901.5(DENND2D):c.796A>G (p.Thr266Ala)	DENND2D (T266A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263127	NM_024901.5(DENND2D):c.1219A>G (p.Arg407Gly)	DENND2D, LOC126805826 (R407G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229775	NM_024901.5(DENND2D):c.752C>T (p.Ala251Val)	DENND2D (A248V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227878	NM_024901.5(DENND2D):c.197G>A (p.Arg66His)	DENND2D (R63H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2215223	NM_024901.5(DENND2D):c.1172C>T (p.Ala391Val)	DENND2D, LOC126805826 (A391V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210586	NM_024901.5(DENND2D):c.712T>C (p.Cys238Arg)	DENND2D (C235R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 1012057	NC_000001.10:g.(?_111506243)_(111745058_?)dup	CEPT1, DENND2D +2 more	Duplication	not provided	GUncertain significance
Select item 688916	GRCh37/hg19 1p13.3-13.2(chr1:110994179-112360446)x1	ADORA3, ATP5PB +19 more	Copy number loss	not provided	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 46