"Ambry Genetics"[submitter] AND "DPH7"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2596369	NM_138778.5(DPH7):c.1328C>T (p.Ala443Val)	DPH7 (A245V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3085494	NM_138778.5(DPH7):c.1313C>T (p.Ser438Phe)	DPH7 (S240F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315701	NM_138778.5(DPH7):c.1298T>G (p.Leu433Arg)	DPH7 (L235R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333734	NM_138778.5(DPH7):c.1282G>A (p.Asp428Asn)	DPH7 (D252N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2339945	NM_138778.5(DPH7):c.1261G>A (p.Gly421Ser)	DPH7 (G223S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273611	NM_138778.5(DPH7):c.1229T>C (p.Leu410Pro)	DPH7 (L276P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273599	NM_138778.5(DPH7):c.1222A>C (p.Thr408Pro)	DPH7 (T232P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513075	NM_138778.5(DPH7):c.1114G>A (p.Glu372Lys)	DPH7 (E350K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390660	NM_138778.5(DPH7):c.1058C>T (p.Ser353Leu)	DPH7 (S353L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342853	NM_138778.5(DPH7):c.1036C>T (p.Arg346Cys)	DPH7 (R148C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523155	NM_138778.5(DPH7):c.1024T>C (p.Trp342Arg)	DPH7 (W342R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515503	NM_138778.5(DPH7):c.1007A>G (p.Tyr336Cys)	DPH7 (Y160C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402632	NM_138778.5(DPH7):c.980C>T (p.Ser327Phe)	DPH7 (S129F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273605	NM_138778.5(DPH7):c.883C>A (p.His295Asn)	DPH7 (H273N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290624	NM_138778.5(DPH7):c.844C>G (p.Gln282Glu)	DPH7 (Q106E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273603	NM_138778.5(DPH7):c.836C>A (p.Thr279Lys)	DPH7 (T81K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085501	NM_138778.5(DPH7):c.809G>A (p.Arg270Gln)	DPH7 (R136Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468642	NM_138778.5(DPH7):c.779A>G (p.Tyr260Cys)	DPH7 (Y238C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215841	NM_138778.5(DPH7):c.758A>G (p.His253Arg)	DPH7 (H253R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279019	NM_138778.5(DPH7):c.647A>G (p.Asp216Gly)	DPH7 (D82G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302737	NM_138778.5(DPH7):c.646G>A (p.Asp216Asn)	DPH7 (D216N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520050	NM_138778.5(DPH7):c.643G>T (p.Gly215Cys)	DPH7 (G215C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487800	NM_138778.5(DPH7):c.592G>A (p.Ala198Thr)	DPH7 (A22T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457912	NM_138778.5(DPH7):c.578C>T (p.Ala193Val)	DPH7 (A17V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085499	NM_138778.5(DPH7):c.512G>C (p.Gly171Ala)	DPH7 (G37A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273602	NM_138778.5(DPH7):c.482C>T (p.Pro161Leu)	DPH7 (P161L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273598	NM_138778.5(DPH7):c.455G>A (p.Gly152Glu)	DPH7 (G152E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2263668	NM_138778.5(DPH7):c.452C>T (p.Thr151Ile)	DPH7 (T151I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2205493	NM_138778.5(DPH7):c.404G>T (p.Ser135Ile)	DPH7 (S135I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2604815	NM_138778.5(DPH7):c.245A>C (p.Glu82Ala)	DPH7 (E82A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085497	NM_138778.5(DPH7):c.231T>G (p.Ile77Met)	DPH7 (I77M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085496	NM_138778.5(DPH7):c.229A>G (p.Ile77Val)	DPH7 (I77V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2557617	NM_138778.5(DPH7):c.211T>C (p.Phe71Leu)	DPH7 (F71L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273597	NM_138778.5(DPH7):c.194G>A (p.Arg65His)	DPH7 (R65H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209686	NM_138778.5(DPH7):c.167T>A (p.Val56Asp)	DPH7 (V56D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085495	NM_138778.5(DPH7):c.150C>A (p.Asn50Lys)	DPH7, LOC130003126 (N50K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273601	NM_138778.5(DPH7):c.128A>C (p.Asp43Ala)	DPH7, LOC130003126 (D43A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273600	NM_138778.5(DPH7):c.46G>A (p.Ala16Thr)	DPH7, LOC130003126 (A16T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085498	NM_138778.5(DPH7):c.32A>G (p.Asp11Gly)	DPH7, LOC130003126 (D11G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 39