ClinVar for MedGen (Select 934768) - ClinVar - NCBI

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

Links from MedGen

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1185543	NM_001383.6(DPH1):c.400+117G>A	DPH1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185336	NM_001383.6(DPH1):c.1228-21A>G	DPH1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1182072	NM_001383.6(DPH1):c.996T>C (p.Pro332=)	DPH1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1033423	NM_001383.6(DPH1):c.80G>A (p.Arg27His)	DPH1 (R27H +1 more)	Single nucleotide variant (missense variant +2 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair	GUncertain significance
Select item 1033422	NM_001383.6(DPH1):c.721A>T (p.Ile241Phe)	DPH1 (I241F +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair	GUncertain significance
Select item 1029333	NM_001383.6(DPH1):c.752A>G (p.Tyr251Cys)	DPH1 (Y245C +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair	GUncertain significance
Select item 1029332	NM_001383.6(DPH1):c.34C>A (p.Gln12Lys)	DPH1 (Q12K +1 more)	Single nucleotide variant (missense variant +2 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair	GUncertain significance
Select item 1012314	NM_001383.6(DPH1):c.457del (p.Arg153fs)	DPH1 (R153fs +2 more)	Deletion (frameshift variant +1 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair	GLikely pathogenic
Select item 1012313	NM_001383.6(DPH1):c.382T>C (p.Tyr128His)	DPH1 (Y128H +1 more)	Single nucleotide variant (missense variant +2 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair	GLikely pathogenic
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
Select item 521028	NM_001383.6(DPH1):c.359T>C (p.Leu120Pro)	DPH1 (L125P +1 more)	Single nucleotide variant (missense variant +2 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair +3 more	GConflicting classifications of pathogenicity
Select item 183359	NM_001383.6(DPH1):c.686T>C (p.Leu229Pro)	DPH1 (L234P +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 +1 more	GPathogenic/Likely pathogenic