"GeneDx"[submitter] AND "DPM2"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 128921	NM_003863.4(DPM2):c.227C>G (p.Thr76Ser)	DPM2 (T76S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 128920	NM_003863.4(DPM2):c.213T>C (p.Tyr71=)	DPM2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1196032	NM_003863.4(DPM2):c.196+191C>G	DPM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1397768	NM_003863.4(DPM2):c.184C>G (p.Leu62Val)	DPM2 (L32V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 128919	NM_003863.4(DPM2):c.183G>A (p.Leu61=)	DPM2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 128918	NM_003863.4(DPM2):c.177C>T (p.Leu59=)	DPM2	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy +1 more	GBenign/Likely benign
Select item 383874	NM_003863.4(DPM2):c.153C>T (p.Val51=)	DPM2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1200255	NM_003863.4(DPM2):c.94-47C>T	DPM2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1217485	NM_003863.4(DPM2):c.93+60C>G	DPM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 392159	NM_003863.4(DPM2):c.64A>G (p.Thr22Ala)	DPM2 (T22A)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 679336	NM_003863.4(DPM2):c.4-115C>T	DPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217490	NM_003863.4(DPM2):c.3+99C>G	DPM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508270	NM_003863.4(DPM2):c.3+12A>G	DPM2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy +1 more	GBenign/Likely benign
Select item 390048	NM_003863.4(DPM2):c.-11C>T	DPM2, LOC130002675	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 385714	NM_003863.4(DPM2):c.-11C>G	DPM2, LOC130002675	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 365118	NM_003863.3(DPM2):c.-152A>G	DPM2, LOC130002675	Single nucleotide variant	not provided +1 more	GBenign
Select item 365121	NM_003863.3(DPM2):c.-382C>T	DPM2	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 365125	NM_003863.3(DPM2):c.-628A>G	DPM2	Single nucleotide variant	not provided +1 more	GBenign
Select item 1234407	NC_000009.12:g.127938681T>C	DPM2	Single nucleotide variant	not provided	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 1676354	NM_003863.4(DPM2):c.196+102C>T	DPM2	Single nucleotide variant	not provided	GLikely benign

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Items: 24