Related gene-specific medical variations for Gene (Select 1801) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3389565	NM_080822.3(OVCA2):c.192C>T (p.Cys64=)	DPH1, OVCA2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3382880	NM_001383.6(DPH1):c.693T>G (p.Asp231Glu)	DPH1 (D225E +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1	GUncertain significance
Select item 3303724	NM_080822.3(OVCA2):c.29T>G (p.Leu10Arg)	DPH1, OVCA2 (L10R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303723	NM_080822.3(OVCA2):c.160C>T (p.Pro54Ser)	DPH1, LOC130059903 +1 more (P54S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273587	NM_001383.6(DPH1):c.1167G>C (p.Trp389Cys)	DPH1, LOC130059901 (W254C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3233395	NM_001383.6(DPH1):c.701T>C (p.Phe234Ser)	DPH1 (F228S +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair	GUncertain significance
Select item 3207461	NM_080822.3(OVCA2):c.613G>A (p.Gly205Ser)	DPH1, OVCA2 (G205S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207459	NM_080822.3(OVCA2):c.25G>T (p.Val9Phe)	DPH1, OVCA2 (V9F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207458	NM_080822.3(OVCA2):c.194C>T (p.Pro65Leu)	DPH1, OVCA2 (P65L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207457	NM_080822.3(OVCA2):c.158G>C (p.Gly53Ala)	DPH1, LOC130059903 +1 more (G53A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3068255	NM_001383.6(DPH1):c.1228-1G>A	DPH1	Single nucleotide variant (splice acceptor variant)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1	GUncertain significance
Select item 3067207	NM_080822.3(OVCA2):c.6C>T (p.Ala2=)	DPH1, OVCA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3065620	NM_001383.6(DPH1):c.-13G>A	DPH1 (M1I)	Single nucleotide variant (missense variant +3 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1	GUncertain significance
Select item 2621802	NM_001383.6(DPH1):c.1141T>C (p.Tyr381His)	DPH1, LOC130059901 (Y354H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595368	NM_080822.3(OVCA2):c.560G>C (p.Ser187Thr)	DPH1, OVCA2 (S187T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2582416	NM_001383.6(DPH1):c.1256C>G (p.Ser419Trp)	DPH1 (S284W +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1	GUncertain significance
Select item 2582411	NM_001383.6(DPH1):c.322G>A (p.Gly108Arg)	DPH1 (G108R +1 more)	Single nucleotide variant (missense variant +2 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1	GUncertain significance
Select item 2536484	NM_080822.3(OVCA2):c.425C>T (p.Pro142Leu)	DPH1, OVCA2 (P142L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517312	NM_080822.3(OVCA2):c.601A>C (p.Thr201Pro)	DPH1, OVCA2 (T201P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2501780	NM_001383.6(DPH1):c.400+5G>T	DPH1	Single nucleotide variant (intron variant)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1	GUncertain significance
Select item 2494824	NM_080822.3(OVCA2):c.325C>G (p.Leu109Val)	DPH1, OVCA2 (L109V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2491147	NM_080822.3(OVCA2):c.316C>A (p.Leu106Met)	DPH1, OVCA2 (L106M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2479830	NM_080822.3(OVCA2):c.547C>T (p.Pro183Ser)	DPH1, OVCA2 (P183S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2478991	NM_001383.6(DPH1):c.1196C>T (p.Pro399Leu)	DPH1, LOC130059901 (P383L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2442231	NM_001383.6(DPH1):c.155A>G (p.Asn52Ser)	DPH1 (N52S +1 more)	Single nucleotide variant (missense variant +2 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1	GUncertain significance
Select item 2390439	NM_080822.3(OVCA2):c.281G>A (p.Gly94Asp)	DPH1, OVCA2 (G94D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2388702	NM_080822.3(OVCA2):c.19C>G (p.Leu7Val)	DPH1, OVCA2 (L7V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377911	NM_080822.3(OVCA2):c.284T>A (p.Leu95Gln)	DPH1, OVCA2 (L95Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2351092	NM_080822.3(OVCA2):c.541G>A (p.Val181Ile)	DPH1, OVCA2 (V181I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2342344	NM_080822.3(OVCA2):c.343C>T (p.Leu115Phe)	DPH1, OVCA2 (L115F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2323383	NM_080822.3(OVCA2):c.359A>C (p.Gln120Pro)	DPH1, OVCA2 (Q120P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2305902	NM_080822.3(OVCA2):c.655C>T (p.Leu219Phe)	DPH1, OVCA2 (L219F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2303855	NM_080822.3(OVCA2):c.326T>C (p.Leu109Pro)	DPH1, OVCA2 (L109P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2237826	NM_080822.3(OVCA2):c.169G>C (p.Ala57Pro)	DPH1, LOC130059903 +1 more (A57P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204596	NM_080822.3(OVCA2):c.559A>T (p.Ser187Cys)	DPH1, OVCA2 (S187C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1302089	NM_001383.6(DPH1):c.*19-155C>T	DPH1, OVCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302080	NM_001383.6(DPH1):c.*19-205C>T	DPH1, OVCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302072	NM_001383.6(DPH1):c.*19-278G>T	DPH1, OVCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 986047	NM_001383.6(DPH1):c.1198del (p.His400fs)	DPH1, LOC130059901 (H265fs +3 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 983087	NM_001383.6(DPH1):c.1193G>A (p.Arg398His)	DPH1, LOC130059901 (R263H +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair	GUncertain significance

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Links from Gene

Items: 40