Related gene-specific medical variations for Gene (Select 5034) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2790105	NM_000918.4(P4HB):c.19C>T (p.Leu7=)	LOC130061971, P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2418150	NM_000918.4(P4HB):c.23G>A (p.Cys8Tyr)	LOC130061971, P4HB (C8Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2286688	NM_000918.4(P4HB):c.13G>A (p.Ala5Thr)	LOC130061971, P4HB (A5T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280960	NM_000918.4(P4HB):c.10C>G (p.Arg4Gly)	LOC130061971, P4HB (R4G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1296622	NM_000918.4(P4HB):c.145+151A>C	LOC130061970, P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267903	NM_000918.4(P4HB):c.-13A>C	LOC130061971, P4HB	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1197058	NM_000918.4(P4HB):c.14C>T (p.Ala5Val)	LOC130061971, P4HB (A5V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1193831	NM_000918.4(P4HB):c.145+143G>A	LOC130061970, P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 740382	NM_000918.4(P4HB):c.16C>T (p.Leu6=)	LOC130061971, P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 425148	NM_000918.4(P4HB):c.1199G>A (p.Cys400Tyr)	P4HB (C400Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance