Related gene-specific medical variations for Gene (Select 5137) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664004	NM_001191057.4(PDE1C):c.1071G>T (p.Gln357His)	PDE1C (Q357H +2 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 74	GUncertain significance
Select item 2594788	NM_001257967.3(ITPRID1):c.2792G>A (p.Arg931Gln)	ITPRID1, PDE1C (R931Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590244	NM_001257967.3(ITPRID1):c.2873A>C (p.His958Pro)	ITPRID1, PDE1C (H958P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2561458	NM_001257967.3(ITPRID1):c.1511A>G (p.Glu504Gly)	ITPRID1, PDE1C (E504G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548365	NM_006658.5(PPP1R17):c.50T>C (p.Leu17Pro)	PDE1C, PPP1R17 (L17P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544193	NM_001257967.3(ITPRID1):c.2551C>T (p.Leu851Phe)	ITPRID1, PDE1C (L851F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515064	NM_001257967.3(ITPRID1):c.1955A>T (p.Tyr652Phe)	ITPRID1, PDE1C (Y652F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511198	NM_001257967.3(ITPRID1):c.1266C>G (p.Asp422Glu)	ITPRID1, PDE1C (D422E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484171	NM_001257967.3(ITPRID1):c.1504A>C (p.Met502Leu)	ITPRID1, PDE1C (M502L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463918	NM_001257967.3(ITPRID1):c.1586C>T (p.Thr529Met)	ITPRID1, PDE1C (T529M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2463845	NM_001257967.3(ITPRID1):c.3083C>A (p.Thr1028Asn)	ITPRID1, PDE1C (T1028N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2411879	NM_006658.5(PPP1R17):c.186A>C (p.Lys62Asn)	PDE1C, PPP1R17 (K62N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335210	NM_006658.5(PPP1R17):c.233C>T (p.Pro78Leu)	PPP1R17, PDE1C (P78L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268207	NM_006658.5(PPP1R17):c.303C>G (p.Ile101Met)	PDE1C, PPP1R17 (I101M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222682	NM_006658.5(PPP1R17):c.63C>A (p.Asp21Glu)	PDE1C, PPP1R17 (D21E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1341000	GRCh37/hg19 7p14.3(chr7:31767170-32037495)x3	PDE1C	Copy number gain	not provided	GUncertain significance
Select item 403336	NM_006658.5(PPP1R17):c.29T>G (p.Leu10Arg)	PDE1C, PPP1R17 (L10R)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 161559	NM_001191057.4(PDE1C):c.335G>A (p.Arg112Gln)	PDE1C (R112Q +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance