DENND1A[gene] - ClinVar

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59124	GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1	C5, C5-OT1 +99 more	Copy number loss	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 153090	GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1	ADGRD2, ARPC5L +172 more	Copy number loss	See cases	GPathogenic
Select item 148724	GRCh38/hg38 9q33.3(chr9:123324308-123980252)x1	CRB2, DENND1A +23 more	Copy number loss	See cases	GUncertain significance
Select item 3081457	NM_001352964.2(DENND1A):c.3173C>T (p.Ser1058Leu)	DENND1A (S1008L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394241	NM_001352964.2(DENND1A):c.3161C>T (p.Pro1054Leu)	DENND1A (P1054L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411667	NM_001352964.2(DENND1A):c.3142C>T (p.Pro1048Ser)	DENND1A (P987S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081456	NM_001352964.2(DENND1A):c.3127A>G (p.Lys1043Glu)	DENND1A (K982E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307115	NM_001352964.2(DENND1A):c.3082C>T (p.Pro1028Ser)	DENND1A (P1028S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347107	NM_001352964.2(DENND1A):c.2965C>T (p.Arg989Cys)	DENND1A (R989C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081455	NM_001352964.2(DENND1A):c.2948G>A (p.Arg983Gln)	DENND1A (R922Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262912	NM_001352964.2(DENND1A):c.2939C>T (p.Ser980Leu)	DENND1A (S919L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390430	NM_001352964.2(DENND1A):c.2927C>T (p.Ala976Val)	DENND1A (A915V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391903	NM_001352964.2(DENND1A):c.2902C>G (p.Pro968Ala)	DENND1A (P968A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409001	NM_001352964.2(DENND1A):c.2783C>T (p.Ala928Val)	DENND1A (A867V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264166	NM_001352964.2(DENND1A):c.2734C>A (p.Pro912Thr)	DENND1A (P862T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332931	NM_001352964.2(DENND1A):c.2650C>T (p.Pro884Ser)	DENND1A (P866S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516894	NM_001352964.2(DENND1A):c.2638C>G (p.Pro880Ala)	DENND1A (P819A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276242	NM_001352964.2(DENND1A):c.2621C>A (p.Pro874His)	DENND1A (P813H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532050	NM_001352964.2(DENND1A):c.2596C>G (p.Pro866Ala)	DENND1A (P816A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454719	NM_001352964.2(DENND1A):c.2584C>T (p.Arg862Cys)	DENND1A (R844C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233041	NM_001352964.2(DENND1A):c.2575C>T (p.Leu859Phe)	DENND1A (L809F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250390	NM_001352964.2(DENND1A):c.2562G>C (p.Trp854Cys)	DENND1A (W793C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205456	NM_001352964.2(DENND1A):c.2476C>T (p.Leu826Phe)	DENND1A (L826F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368316	NM_001352964.2(DENND1A):c.2416C>G (p.Arg806Gly)	DENND1A (R745G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081453	NM_001352964.2(DENND1A):c.2342G>T (p.Arg781Leu)	DENND1A (R781L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277439	NM_001352964.2(DENND1A):c.2341C>T (p.Arg781Cys)	DENND1A (R720C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366537	NM_001352964.2(DENND1A):c.2330C>T (p.Pro777Leu)	DENND1A (P727L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295386	NM_001352964.2(DENND1A):c.2320G>A (p.Val774Met)	DENND1A (V774M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081452	NM_001352964.2(DENND1A):c.2223C>G (p.Ile741Met)	DENND1A (I691M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081451	NM_001352964.2(DENND1A):c.2213G>A (p.Arg738Gln)	DENND1A (R720Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3081450	NM_001352964.2(DENND1A):c.2212C>T (p.Arg738Trp)	DENND1A (R677W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773530	NM_001352964.2(DENND1A):c.2165C>T (p.Ser722Leu)	DENND1A (S672L +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2464721	NM_001352964.2(DENND1A):c.2050C>T (p.Arg684Cys)	DENND1A (R666C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378504	NM_001352964.2(DENND1A):c.2035G>A (p.Gly679Arg)	DENND1A (G629R +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3081449	NM_001352964.2(DENND1A):c.1921A>G (p.Met641Val)	DENND1A (M580V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081448	NM_001352964.2(DENND1A):c.1903G>A (p.Val635Ile)	DENND1A (V585I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1676129	NM_001352964.2(DENND1A):c.1888G>A (p.Asp630Asn)	DENND1A (D569N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2384875	NM_001352964.2(DENND1A):c.1870G>A (p.Asp624Asn)	DENND1A (D563N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081447	NM_001352964.2(DENND1A):c.1468A>T (p.Ile490Phe)	DENND1A (I490F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622248	NM_001352964.2(DENND1A):c.1393G>A (p.Glu465Lys)	DENND1A (E433K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519805	NM_001352964.2(DENND1A):c.1378G>A (p.Ala460Thr)	DENND1A (A430T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233986	NM_001352964.2(DENND1A):c.1378G>T (p.Ala460Ser)	DENND1A (A428S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270308	NM_001352964.2(DENND1A):c.1360A>T (p.Ile454Phe)	DENND1A (I422F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081446	NM_001352964.2(DENND1A):c.1351C>A (p.Gln451Lys)	DENND1A (Q420K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081445	NM_001352964.2(DENND1A):c.1310A>G (p.His437Arg)	DENND1A (H405R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659490	NM_001352964.2(DENND1A):c.1302A>G (p.Ala434=)	DENND1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2265480	NM_001352964.2(DENND1A):c.1243A>G (p.Ile415Val)	DENND1A (I383V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277302	NM_001352964.2(DENND1A):c.1226G>A (p.Arg409Gln)	DENND1A (R377Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358962	NM_001352964.2(DENND1A):c.1076C>T (p.Thr359Ile)	DENND1A (T328I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320899	NM_001352964.2(DENND1A):c.1022C>G (p.Ala341Gly)	DENND1A (A341G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520947	NM_001352964.2(DENND1A):c.961G>A (p.Gly321Ser)	DENND1A (G291S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464880	NM_001352964.2(DENND1A):c.925G>T (p.Ala309Ser)	DENND1A (A277S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354941	NM_001352964.2(DENND1A):c.493A>G (p.Ser165Gly)	DENND1A (S135G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337238	NM_001352964.2(DENND1A):c.479C>G (p.Thr160Ser)	DENND1A (T130S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261761	NM_001352964.2(DENND1A):c.427C>T (p.Pro143Ser)	DENND1A (P111S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492294	NM_001352964.2(DENND1A):c.297C>G (p.Ile99Met)	DENND1A (I69M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063098	GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1	ADGRD2, C5 +50 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 1808695	GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1	ADGRD2, ANGPTL2 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1341250	GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1	ADGRD2, ASTN2 +49 more	Copy number loss	not provided	GPathogenic
Select item 815293	GRCh37/hg19 9q33.2-33.3(chr9:124604592-126306080)x1	CRB2, DENND1A +28 more	Copy number loss	not provided	GUncertain significance
Select item 688958	GRCh37/hg19 9q33.2-33.3(chr9:125349988-126462569)x1	CRB2, DENND1A +15 more	Copy number loss	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	OR1L8, OR1N1 +279 more	Copy number gain	See cases	GPathogenic
Select item 394275	GRCh37/hg19 9q33.3(chr9:126118613-126150327)x3	CRB2, DENND1A	Copy number gain	See cases	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 86