"GeneDx"[submitter] AND "MPDU1"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 325511	NM_004870.3(MPDU1):c.-73A>G	MPDU1, MPDU1-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 325512	NM_004870.3(MPDU1):c.-36C>T	MPDU1, MPDU1-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 382610	NM_004870.3(MPDU1):c.-34G>A	MPDU1, MPDU1-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 389197	NM_004870.4(MPDU1):c.12G>A (p.Glu4=)	MPDU1, MPDU1-AS1	Single nucleotide variant (synonymous variant +1 more)	MPDU1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1325936	NM_004870.4(MPDU1):c.103+102T>C	MPDU1, MPDU1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1228784	NM_004870.4(MPDU1):c.104-195_104-194del	MPDU1	Deletion (intron variant)	not provided	GBenign
Select item 386602	NM_004870.4(MPDU1):c.114C>G (p.Leu38=)	MPDU1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1302252	NM_004870.4(MPDU1):c.149T>C (p.Ile50Thr)	MPDU1 (I50T)	Single nucleotide variant (missense variant +1 more)	MPDU1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 259558	NM_004870.4(MPDU1):c.302+21C>T	MPDU1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1283837	NM_004870.4(MPDU1):c.303-240_303-239del	MPDU1	Deletion (intron variant)	not provided	GBenign
Select item 681461	NM_004870.4(MPDU1):c.388+16C>G	MPDU1 (P135R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 325515	NM_004870.4(MPDU1):c.393C>T (p.Val131=)	MPDU1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 95180	NM_004870.4(MPDU1):c.403G>C (p.Ala135Pro)	MPDU1 (A135P)	Single nucleotide variant (missense variant +2 more)	MPDU1-congenital disorder of glycosylation +2 more	GBenign
Select item 325516	NM_004870.4(MPDU1):c.411C>T (p.Tyr137=)	MPDU1	Single nucleotide variant (synonymous variant +2 more)	MPDU1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 3252901	NM_004870.4(MPDU1):c.452del (p.Pro150_Leu151insTer)	MPDU1	Deletion (nonsense +2 more)	not provided	GUncertain significance
Select item 259559	NM_004870.4(MPDU1):c.507+44G>C	MPDU1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 523948	NM_004870.4(MPDU1):c.511del (p.Leu171fs)	MPDU1 (S152fs +1 more)	Deletion (frameshift variant +1 more)	MPDU1-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
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 817696	NM_004870.4(MPDU1):c.566_567del (p.Thr189fs)	MPDU1 (T189fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 387361	NM_004870.4(MPDU1):c.618+14C>T	MPDU1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 631790	NM_004870.4(MPDU1):c.619-2A>G	MPDU1	Single nucleotide variant (splice acceptor variant)	MPDU1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 509198	NM_004870.4(MPDU1):c.648C>T (p.Thr216=)	MPDU1	Single nucleotide variant (3 prime UTR variant +2 more)	MPDU1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2663022	NM_004870.4(MPDU1):c.666_667del (p.Cys223fs)	MPDU1 (C223fs)	Microsatellite (3 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 682554	NM_004870.4(MPDU1):c.672C>T (p.Asn224=)	MPDU1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 325520	NM_004870.4(MPDU1):c.673G>A (p.Gly225Ser)	MPDU1 (G225S)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GBenign
Select item 95181	NM_004870.4(MPDU1):c.685G>A (p.Ala229Thr)	MPDU1 (A229T)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GBenign
Select item 325524	NM_004870.4(MPDU1):c.*308G>T	MPDU1	Single nucleotide variant (3 prime UTR variant +1 more)	MPDU1-congenital disorder of glycosylation +1 more	GBenign

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Items: 28