Related gene-specific medical variations for Gene (Select 4352) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441472	NM_005373.3(MPL):c.1545_1546dup (p.Gln516fs)	MPL (Q516fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 989701	NM_005373.3(MPL):c.1437C>T (p.Asp479=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia	GUncertain significance
Select item 376029	NM_005373.3(MPL):c.1513A>T (p.Ser505Cys)	MPL (S505C)	Single nucleotide variant (missense variant)	Myeloproliferative neoplasm	GLikely pathogenic
Select item 259756	NM_005373.3(MPL):c.1468+37G>A	MPL	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 134836	NM_005373.3(MPL):c.1120_1121delinsGG (p.Thr374Gly)	MPL (T374G)	Indel (missense variant)	not specified	Gnot provided
Select item 134833	NM_005373.3(MPL):c.733G>A (p.Gly245Arg)	MPL (G245R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134826	NM_005373.3(MPL):c.530dup (p.Asn178fs)	MPL (N178fs)	Duplication (frameshift variant)	not specified	Gnot provided

ClinVar