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

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

Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2517312	NM_080822.3(OVCA2):c.601A>C (p.Thr201Pro)	DPH1, OVCA2 (T201P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2491147	NM_080822.3(OVCA2):c.316C>A (p.Leu106Met)	DPH1, OVCA2 (L106M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2479830	NM_080822.3(OVCA2):c.547C>T (p.Pro183Ser)	DPH1, OVCA2 (P183S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 2441023	NM_001383.6(DPH1):c.65G>A (p.Arg22Gln)	DPH1 (R22Q +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)	OVCA2, DPH1 (G94D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2388702	NM_080822.3(OVCA2):c.19C>G (p.Leu7Val)	OVCA2, DPH1 (L7V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377911	NM_080822.3(OVCA2):c.284T>A (p.Leu95Gln)	OVCA2, DPH1 (L95Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2351092	NM_080822.3(OVCA2):c.541G>A (p.Val181Ile)	OVCA2, DPH1 (V181I)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2342344	NM_080822.3(OVCA2):c.343C>T (p.Leu115Phe)	DPH1, OVCA2 (L115F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2323383	NM_080822.3(OVCA2):c.359A>C (p.Gln120Pro)	DPH1, OVCA2 (Q120P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2305902	NM_080822.3(OVCA2):c.655C>T (p.Leu219Phe)	OVCA2, DPH1 (L219F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2303855	NM_080822.3(OVCA2):c.326T>C (p.Leu109Pro)	OVCA2, DPH1 (L109P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2237826	NM_080822.3(OVCA2):c.169G>C (p.Ala57Pro)	DPH1, LOC130059903 +1 more (A57P)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204596	NM_080822.3(OVCA2):c.559A>T (p.Ser187Cys)	DPH1, OVCA2 (S187C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1324291	NM_001383.6(DPH1):c.652C>T (p.Arg218Ter)	DPH1 (R212* +3 more)	Single nucleotide variant (nonsense +1 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1	GLikely pathogenic
Select item 1302089	NM_080822.3(OVCA2):c.185-155C>T	DPH1, OVCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302080	NM_080822.3(OVCA2):c.184+169C>T	DPH1, OVCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302072	NM_080822.3(OVCA2):c.184+96G>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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 32