Related gene-specific medical variations for Gene (Select 201626) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3210637	NM_177966.7(PDE12):c.760G>A (p.Asp254Asn)	LOC129936929, PDE12 (D254N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3210636	NM_177966.7(PDE12):c.728G>C (p.Gly243Ala)	LOC129936929, PDE12 (G243A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210635	NM_177966.7(PDE12):c.704A>G (p.Tyr235Cys)	LOC129936929, PDE12 (Y235C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128326	NM_001660.4(ARF4):c.289C>A (p.Arg97Ser)	ARF4, PDE12 (R97S)	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 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 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 2515191	NM_177966.7(PDE12):c.31C>T (p.Leu11Phe)	LOC129936928, PDE12 (L11F)	Single nucleotide variant (missense variant)	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 2462602	NM_001660.4(ARF4):c.290G>A (p.Arg97His)	ARF4, PDE12 (R97H)	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 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 2258317	NM_177966.7(PDE12):c.101C>T (p.Ala34Val)	LOC129936928, PDE12 (A34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance