"Ambry Genetics"[submitter] AND "MPDU1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 684508	NM_004870.4(MPDU1):c.19G>T (p.Gly7Ter)	MPDU1, MPDU1-AS1 (G7*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2240105	NM_004870.4(MPDU1):c.23C>T (p.Pro8Leu)	MPDU1, MPDU1-AS1 (P8L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 889661	NM_004870.4(MPDU1):c.53T>C (p.Leu18Ser)	MPDU1-AS1, MPDU1 (L18S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3201147	NM_004870.4(MPDU1):c.56C>T (p.Pro19Leu)	MPDU1, MPDU1-AS1 (P19L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465500	NM_004870.4(MPDU1):c.91G>C (p.Asp31His)	MPDU1, MPDU1-AS1 (D31H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324544	NM_004870.4(MPDU1):c.127A>C (p.Ser43Arg)	MPDU1 (S43R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492692	NM_004870.4(MPDU1):c.134G>T (p.Gly45Val)	MPDU1 (G45V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237774	NM_004870.4(MPDU1):c.169+4T>G	MPDU1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2485699	NM_004870.4(MPDU1):c.230A>C (p.Gln77Pro)	MPDU1 (Q77P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 889664	NM_004870.4(MPDU1):c.338C>T (p.Thr113Met)	MPDU1 (T113M)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3201135	NM_004870.4(MPDU1):c.400C>G (p.Leu134Val)	MPDU1 (L134V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3201138	NM_004870.4(MPDU1):c.482A>G (p.Asn161Ser)	MPDU1 (N161S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 325519	NM_004870.4(MPDU1):c.560C>T (p.Ala187Val)	MPDU1 (A187V +1 more)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 2515648	NM_004870.4(MPDU1):c.644G>A (p.Gly215Glu)	MPDU1 (G215E)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3201154	NM_004870.4(MPDU1):c.703T>C (p.Trp235Arg)	MPDU1 (W235R)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance