"Ambry Genetics"[submitter] AND "DDI1"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2326922	NM_001001711.3(DDI1):c.68C>G (p.Pro23Arg)	DDI1, PDGFD (P23R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271195	NM_001001711.3(DDI1):c.107C>G (p.Ala36Gly)	DDI1, PDGFD (A36G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080735	NM_001001711.3(DDI1):c.124G>A (p.Val42Ile)	DDI1, PDGFD (V42I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268237	NM_001001711.3(DDI1):c.179C>T (p.Ser60Phe)	DDI1, PDGFD (S60F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238545	NM_001001711.3(DDI1):c.200A>G (p.Lys67Arg)	DDI1, PDGFD (K67R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207431	NM_001001711.3(DDI1):c.211A>G (p.Ile71Val)	DDI1, PDGFD (I71V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2495016	NM_001001711.3(DDI1):c.214G>C (p.Val72Leu)	DDI1, PDGFD (V72L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271194	NM_001001711.3(DDI1):c.245C>T (p.Pro82Leu)	DDI1, PDGFD (P82L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618421	NM_001001711.3(DDI1):c.251C>T (p.Ala84Val)	DDI1, PDGFD (A84V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487719	NM_001001711.3(DDI1):c.284A>G (p.Asp95Gly)	DDI1, PDGFD (D95G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231508	NM_001001711.3(DDI1):c.299C>T (p.Ala100Val)	DDI1, PDGFD (A100V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080736	NM_001001711.3(DDI1):c.335C>T (p.Pro112Leu)	DDI1, PDGFD (P112L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311149	NM_001001711.3(DDI1):c.337G>A (p.Gly113Arg)	DDI1, PDGFD (G113R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080737	NM_001001711.3(DDI1):c.355A>C (p.Thr119Pro)	DDI1, PDGFD (T119P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350718	NM_001001711.3(DDI1):c.358C>T (p.Pro120Ser)	DDI1, PDGFD (P120S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080739	NM_001001711.3(DDI1):c.361G>T (p.Ala121Ser)	DDI1, PDGFD (A121S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2311480	NM_001001711.3(DDI1):c.394G>A (p.Glu132Lys)	DDI1, PDGFD (E132K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466581	NM_001001711.3(DDI1):c.434T>G (p.Leu145Arg)	DDI1, PDGFD (L145R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611855	NM_001001711.3(DDI1):c.459C>A (p.Asn153Lys)	DDI1, PDGFD (N153K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300504	NM_001001711.3(DDI1):c.493C>A (p.Pro165Thr)	DDI1, PDGFD (P165T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282903	NM_001001711.3(DDI1):c.566A>G (p.Glu189Gly)	DDI1, PDGFD (E189G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607355	NM_001001711.3(DDI1):c.584A>C (p.Gln195Pro)	DDI1, PDGFD (Q195P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080740	NM_001001711.3(DDI1):c.602A>C (p.Tyr201Ser)	DDI1, PDGFD (Y201S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298391	NM_001001711.3(DDI1):c.782C>T (p.Ser261Leu)	DDI1, PDGFD (S261L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080741	NM_001001711.3(DDI1):c.797C>T (p.Thr266Ile)	DDI1, PDGFD (T266I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485909	NM_001001711.3(DDI1):c.821A>C (p.Glu274Ala)	DDI1, PDGFD (E274A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284858	NM_001001711.3(DDI1):c.821A>T (p.Glu274Val)	DDI1, PDGFD (E274V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513685	NM_001001711.3(DDI1):c.824G>A (p.Arg275Gln)	DDI1, PDGFD (R275Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361922	NM_001001711.3(DDI1):c.887A>G (p.Gln296Arg)	DDI1, PDGFD (Q296R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080742	NM_001001711.3(DDI1):c.985C>T (p.Leu329Phe)	DDI1, PDGFD (L329F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529737	NM_001001711.3(DDI1):c.1006C>G (p.Arg336Gly)	DDI1, PDGFD (R336G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226949	NM_001001711.3(DDI1):c.1006C>T (p.Arg336Trp)	DDI1, PDGFD (R336W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080733	NM_001001711.3(DDI1):c.1018T>C (p.Cys340Arg)	DDI1, PDGFD (C340R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322214	NM_001001711.3(DDI1):c.1048G>C (p.Val350Leu)	DDI1, PDGFD (V350L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250684	NM_001001711.3(DDI1):c.1066A>G (p.Thr356Ala)	DDI1, PDGFD (T356A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080734	NM_001001711.3(DDI1):c.1082T>C (p.Leu361Pro)	DDI1, PDGFD (L361P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523361	NM_001001711.3(DDI1):c.1098G>T (p.Leu366Phe)	DDI1, PDGFD (L366F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306990	NM_001001711.3(DDI1):c.1135T>A (p.Ser379Thr)	DDI1, PDGFD (S379T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 38