ClinVar for MedGen (Select 1374755) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434539	NM_000918.4(P4HB):c.1453G>C (p.Glu485Gln)	P4HB (E485Q)	Single nucleotide variant (missense variant)	Cole-Carpenter syndrome 1	GUncertain significance
Select item 2412808	NM_000918.4(P4HB):c.1199_1200delinsTT (p.Cys400Phe)	P4HB (C400F)	Indel (missense variant)	Cole-Carpenter syndrome 1	GUncertain significance
Select item 2053946	NM_000918.4(P4HB):c.1153A>G (p.Lys385Glu)	P4HB (K385E)	Single nucleotide variant (missense variant)	Cole-Carpenter syndrome 1 +1 more	GUncertain significance
Select item 1175197	NM_000918.4(P4HB):c.236dup (p.Leu79fs)	P4HB (L79fs)	Duplication (frameshift variant)	Cole-Carpenter syndrome 1	GLikely pathogenic
Select item 1165301	NM_000918.4(P4HB):c.430G>A (p.Ala144Thr)	P4HB (A144T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1032489	NM_000918.4(P4HB):c.718T>C (p.Phe240Leu)	P4HB (F240L)	Single nucleotide variant (missense variant)	Cole-Carpenter syndrome 1	GUncertain significance
Select item 931909	NM_000918.4(P4HB):c.1148A>T (p.Asp383Val)	P4HB (D383V)	Single nucleotide variant (missense variant)	Cole-Carpenter syndrome 1	GUncertain significance
Select item 189337	NM_000918.4(P4HB):c.1178A>G (p.Tyr393Cys)	P4HB (Y393C)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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