"Ambry Genetics"[submitter] AND "DNPEP"[gene] - ClinVar

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

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2494972	NM_012100.4(DNPEP):c.1169G>A (p.Arg390His)	DNPEP (R354H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297267	NM_012100.4(DNPEP):c.1161C>G (p.Ser387Arg)	DNPEP (S359R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278830	NM_012100.4(DNPEP):c.1081G>A (p.Val361Met)	DNPEP (V333M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251433	NM_012100.4(DNPEP):c.1022C>T (p.Thr341Ile)	DNPEP (T341I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371720	NM_012100.4(DNPEP):c.941G>T (p.Gly314Val)	DNPEP (G300V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266446	NM_012100.4(DNPEP):c.931G>A (p.Glu311Lys)	DNPEP (E275K +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463586	NM_012100.4(DNPEP):c.923A>G (p.Tyr308Cys)	DNPEP (Y280C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265408	NM_012100.4(DNPEP):c.824A>G (p.Asn275Ser)	DNPEP (N222S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526156	NM_012100.4(DNPEP):c.734T>C (p.Ile245Thr)	DNPEP (I245T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218826	NM_012100.4(DNPEP):c.640C>T (p.Pro214Ser)	DNPEP (P161S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474399	NM_012100.4(DNPEP):c.610G>A (p.Ala204Thr)	DNPEP (A151T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531894	NM_012100.4(DNPEP):c.557A>G (p.Asn186Ser)	DNPEP (N194S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472464	NM_012100.4(DNPEP):c.548G>A (p.Arg183Gln)	DNPEP (R169Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2251434	NM_012100.4(DNPEP):c.539A>T (p.His180Leu)	DNPEP (H166L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396770	NM_012100.4(DNPEP):c.483G>C (p.Glu161Asp)	DNPEP (E108D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485525	NM_012100.4(DNPEP):c.463C>T (p.Pro155Ser)	DNPEP (P141S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356013	NM_012100.4(DNPEP):c.448G>A (p.Val150Ile)	DNPEP (V150I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541388	NM_012100.4(DNPEP):c.446G>A (p.Arg149His)	DNPEP (R96H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243087	NM_012100.4(DNPEP):c.401G>T (p.Gly134Val)	DNPEP (G142V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345199	NM_012100.4(DNPEP):c.379G>A (p.Gly127Ser)	DNPEP (G135S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317346	NM_012100.4(DNPEP):c.341G>T (p.Arg114Leu)	DNPEP (R61L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234587	NM_012100.4(DNPEP):c.245C>T (p.Thr82Ile)	DNPEP (T29I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373980	NM_012100.4(DNPEP):c.161A>G (p.Gln54Arg)	DNPEP (Q62R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2470688	NM_012100.4(DNPEP):c.103G>A (p.Val35Met)	DNPEP (V21M +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2242885	NM_012100.4(DNPEP):c.35A>G (p.Gln12Arg)	DNPEP, LOC129935652 (Q12R)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 25