ClinVar for MedGen (Select 462275) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1805662	NM_018109.4(MTPAP):c.1567C>T (p.Arg523Trp)	MTPAP (R523W)	Single nucleotide variant (missense variant)	Spastic ataxia 4	GUncertain significance
Select item 1805661	NM_018109.4(MTPAP):c.1283T>C (p.Ile428Thr)	MTPAP (I428T)	Single nucleotide variant (missense variant)	Spastic ataxia 4	GUncertain significance
Select item 1029511	NM_018109.4(MTPAP):c.842C>G (p.Thr281Ser)	MTPAP (T281S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1028088	NM_018109.4(MTPAP):c.1673T>C (p.Leu558Pro)	MTPAP (L558P)	Single nucleotide variant (missense variant)	Spastic ataxia 4	GUncertain significance
Select item 805055	NM_018109.4(MTPAP):c.468G>C (p.Gln156His)	MTPAP (Q156H)	Single nucleotide variant (missense variant)	Spastic ataxia 4 +1 more	GUncertain significance
Select item 447743	NM_018109.4(MTPAP):c.346G>A (p.Val116Ile)	MTPAP (V116I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 374341	NM_018109.4(MTPAP):c.1468G>T (p.Val490Leu)	MTPAP (V490L)	Single nucleotide variant (missense variant)	Spastic ataxia 4	GUncertain significance
Select item 138281	NM_018109.4(MTPAP):c.555+19C>T	MTPAP	Single nucleotide variant (intron variant)	Spastic ataxia 4 +2 more	GBenign
Select item 138280	NM_018109.4(MTPAP):c.157+20C>T	LOC130003597, MTPAP	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 129624	NM_018109.4(MTPAP):c.484C>T (p.Arg162Cys)	MTPAP (R162C)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 18391	NM_018109.4(MTPAP):c.1432A>G (p.Asn478Asp)	MTPAP (N478D)	Single nucleotide variant (missense variant)	not provided	GPathogenic