ClinVar for Gene (Select 79961) - ClinVar

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

Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271551	NM_024901.5(DENND2D):c.1244C>T (p.Ser415Phe)	DENND2D, LOC126805826 (S412F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271549	NM_024901.5(DENND2D):c.1177T>C (p.Tyr393His)	DENND2D, LOC126805826 (Y390H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271548	NM_024901.5(DENND2D):c.631G>A (p.Asp211Asn)	DENND2D (D208N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271547	NM_024901.5(DENND2D):c.401A>G (p.Lys134Arg)	DENND2D (K131R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271546	NM_024901.5(DENND2D):c.1186C>T (p.Arg396Trp)	DENND2D, LOC126805826 (R393W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271545	NM_024901.5(DENND2D):c.227C>T (p.Thr76Ile)	DENND2D (T76I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271544	NM_024901.5(DENND2D):c.22C>T (p.Arg8Trp)	DENND2D, LOC129931164 (R8W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271543	NM_024901.5(DENND2D):c.44G>A (p.Arg15His)	DENND2D, LOC129931164 (R15H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +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

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 54