"Ambry Genetics"[submitter] AND "DPH2"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2479298	NM_001384.5(DPH2):c.64C>G (p.Leu22Val)	DPH2, LOC129930398 (L22V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598035	NM_001384.5(DPH2):c.239T>C (p.Leu80Pro)	DPH2 (L4P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336711	NM_001384.5(DPH2):c.256G>A (p.Gly86Ser)	DPH2 (G10S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085476	NM_001384.5(DPH2):c.268G>C (p.Val90Leu)	DPH2 (V90L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2391431	NM_001384.5(DPH2):c.268G>A (p.Val90Met)	DPH2 (V90M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2277764	NM_001384.5(DPH2):c.268G>T (p.Val90Leu)	DPH2 (V14L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2490061	NM_001384.5(DPH2):c.274G>A (p.Val92Met)	DPH2 (V16M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085477	NM_001384.5(DPH2):c.374G>A (p.Arg125His)	DPH2 (R125H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085478	NM_001384.5(DPH2):c.496A>C (p.Thr166Pro)	DPH2, LOC126805726 (T18P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085479	NM_001384.5(DPH2):c.511C>T (p.Arg171Trp)	DPH2, LOC126805726 (R95W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273592	NM_001384.5(DPH2):c.536G>C (p.Ser179Thr)	DPH2, LOC126805726 (S31T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2546303	NM_001384.5(DPH2):c.562T>G (p.Ser188Ala)	DPH2, LOC126805726 (S188A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2458123	NM_001384.5(DPH2):c.602G>A (p.Arg201His)	DPH2, LOC126805726 (R125H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085480	NM_001384.5(DPH2):c.692A>G (p.Asp231Gly)	DPH2, LOC126805726 (D83G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314357	NM_001384.5(DPH2):c.706C>T (p.Arg236Trp)	DPH2, LOC126805726 (R101W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085481	NM_001384.5(DPH2):c.710T>G (p.Leu237Arg)	DPH2, LOC126805726 (L161R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470959	NM_001384.5(DPH2):c.719G>A (p.Gly240Glu)	DPH2, LOC126805726 (G240E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085482	NM_001384.5(DPH2):c.787C>T (p.Arg263Trp)	DPH2, LOC126805726 (R128W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218222	NM_001384.5(DPH2):c.788G>A (p.Arg263Gln)	DPH2, LOC126805726 (R128Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085483	NM_001384.5(DPH2):c.845G>T (p.Arg282Leu)	DPH2, LOC126805726 (R89L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085484	NM_001384.5(DPH2):c.875G>A (p.Gly292Asp)	DPH2, LOC126805726 (G157D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468534	NM_001384.5(DPH2):c.904C>A (p.His302Asn)	DPH2, LOC126805726 (H167N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236259	NM_001384.5(DPH2):c.915C>A (p.Asn305Lys)	DPH2, LOC126805726 (N170K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483600	NM_001384.5(DPH2):c.929C>T (p.Ala310Val)	DPH2, LOC126805726 (A117V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477506	NM_001384.5(DPH2):c.964C>A (p.Pro322Thr)	DPH2, LOC126805726 (P174T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273590	NM_001384.5(DPH2):c.986A>G (p.Asn329Ser)	DPH2, LOC126805726 (N181S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273591	NM_001384.5(DPH2):c.1013T>C (p.Leu338Pro)	DPH2, LOC126805726 (L190P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273589	NM_001384.5(DPH2):c.1055G>A (p.Gly352Asp)	DPH2, LOC126805726 (G217D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274818	NM_001384.5(DPH2):c.1117C>T (p.Pro373Ser)	DPH2, LOC126805726 (P180S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613070	NM_001384.5(DPH2):c.1256C>A (p.Pro419His)	DPH2, LOC126805726 (P328H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294184	NM_001384.5(DPH2):c.1342G>A (p.Ala448Thr)	DPH2, LOC126805726 (A255T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085472	NM_001384.5(DPH2):c.1388G>A (p.Arg463His)	DPH2, LOC126805726 (R235H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085473	NM_001384.5(DPH2):c.1394G>T (p.Gly465Val)	DPH2, LOC126805726 (G272V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085474	NM_001384.5(DPH2):c.1400C>T (p.Thr467Met)	DPH2, LOC126805726 (T467M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085475	NM_001384.5(DPH2):c.1430G>A (p.Arg477Gln)	DPH2, LOC126805726 (R249Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 35