ClinVar for MedGen (Select 272036) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1929397	NM_138701.4(MPLKIP):c.372del (p.Arg126fs)	MPLKIP (R126fs)	Deletion (frameshift variant)	Trichothiodystrophy 4, nonphotosensitive +1 more	GConflicting classifications of pathogenicity
Select item 1332725	NM_138701.4(MPLKIP):c.229del (p.Arg77fs)	MPLKIP (R77fs)	Deletion (frameshift variant)	Trichothiodystrophy 4, nonphotosensitive	GPathogenic
Select item 1031149	NM_138701.4(MPLKIP):c.49G>A (p.Gly17Ser)	MPLKIP (G17S)	Single nucleotide variant (missense variant)	Trichothiodystrophy 4, nonphotosensitive	GUncertain significance
Select item 548559	NM_138701.4(MPLKIP):c.494G>T (p.Ser165Ile)	MPLKIP (S165I)	Single nucleotide variant (missense variant)	Trichothiodystrophy 4, nonphotosensitive +1 more	GUncertain significance
Select item 224867	NM_138701.4(MPLKIP):c.339+1G>A	MPLKIP	Single nucleotide variant (splice donor variant)	Trichothiodystrophy 4, nonphotosensitive	GPathogenic
Select item 1848	NM_138701.4(MPLKIP):c.148_152del (p.His50fs)	LOC129998295, MPLKIP (H50fs)	Deletion (frameshift variant)	Trichothiodystrophy 4, nonphotosensitive	GPathogenic
Select item 1847	NM_138701.4(MPLKIP):c.277del (p.Ser93fs)	MPLKIP (S93fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1846	NC_000007.14:g.(40116368_?)_(?_40134601)del	LOC129998295, MPLKIP	Deletion	Trichothiodystrophy 4, nonphotosensitive	GPathogenic
Select item 1845	NM_138701.4(MPLKIP):c.137_138del (p.Gly46fs)	MPLKIP (G46fs)	Deletion (frameshift variant)	Trichothiodystrophy 4, nonphotosensitive	GPathogenic
Select item 1844	NM_138701.4(MPLKIP):c.430A>G (p.Met144Val)	MPLKIP (M144V)	Single nucleotide variant (missense variant)	not provided	GPathogenic