"GeneDx"[submitter] AND "LOC130002699"[gene] - ClinVar - NCBI

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Items: 9

	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 387422	NM_004408.4(DNM1):c.2420C>G (p.Ser807Cys)	DNM1, LOC130002699 (S807C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A +2 more	GConflicting classifications of pathogenicity
Select item 662595	NM_004408.4(DNM1):c.2429G>T (p.Gly810Val)	DNM1, LOC130002699 (G810V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A +2 more	GBenign/Likely benign
Select item 476064	NM_004408.4(DNM1):c.2430G>A (p.Gly810=)	DNM1, LOC130002699	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 430516	NM_004408.4(DNM1):c.2455C>T (p.Pro819Ser)	DNM1, LOC130002699 (P819S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1984872	NM_004408.4(DNM1):c.2466C>A (p.Ser822=)	DNM1, LOC130002699	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 510495	NM_004408.4(DNM1):c.2466C>G (p.Ser822=)	DNM1, LOC130002699	Single nucleotide variant (synonymous variant)	not specified	GLikely benign