DENND6A[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +155 more	Copy number loss	See cases	GPathogenic
Select item 3081692	NM_152678.3(DENND6A):c.1600C>G (p.Leu534Val)	DENND6A, PDE12 (L534V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467743	NM_152678.3(DENND6A):c.1349C>T (p.Pro450Leu)	DENND6A, PDE12 (P450L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322620	NM_152678.3(DENND6A):c.1342A>G (p.Ile448Val)	DENND6A, PDE12 (I448V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364732	NM_152678.3(DENND6A):c.1327C>G (p.Leu443Val)	DENND6A, PDE12 (L443V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081689	NM_152678.3(DENND6A):c.1069T>G (p.Phe357Val)	DENND6A, PDE12 (F357V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529928	NM_152678.3(DENND6A):c.1049T>C (p.Ile350Thr)	DENND6A, PDE12 (I350T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081694	NM_152678.3(DENND6A):c.898C>G (p.Pro300Ala)	DENND6A, PDE12 (P300A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081693	NM_152678.3(DENND6A):c.791C>G (p.Pro264Arg)	DENND6A (P264R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525625	NM_152678.3(DENND6A):c.750G>C (p.Gln250His)	DENND6A (Q250H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604583	NM_152678.3(DENND6A):c.604C>T (p.Pro202Ser)	DENND6A (P202S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373555	NM_152678.3(DENND6A):c.376G>T (p.Val126Leu)	DENND6A (V126L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 549590	NC_000003.12:g.57686154_57804308dup	DENND6A, DENND6A-DT +4 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 3025509	NM_152678.3(DENND6A):c.184C>T (p.Leu62=)	DENND6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3081690	NM_152678.3(DENND6A):c.130G>A (p.Glu44Lys)	DENND6A (E44K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271613	NM_152678.3(DENND6A):c.104C>T (p.Ala35Val)	DENND6A (A35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271612	NM_152678.3(DENND6A):c.103G>T (p.Ala35Ser)	DENND6A (A35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354265	NM_152678.3(DENND6A):c.32C>T (p.Pro11Leu)	DENND6A, LOC129936932 (P11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2423438	NC_000003.11:g.(?_57130421)_(58520833_?)del	ABHD6, ACOX2 +15 more	Deletion	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 688573	GRCh37/hg19 3p14.3(chr3:57606386-57817218)x3	DENND6A, SLMAP	Copy number gain	not provided	GUncertain significance
Select item 685671	GRCh37/hg19 3p14.3-14.1(chr3:57076136-65716956)x1	ABHD6, ACOX2 +34 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic

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Items: 27