"GeneDx"[submitter] AND "LOC130002698"[gene] - ClinVar - NCBI

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Items: 11

	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 508660	NM_004408.4(DNM1):c.2271C>T (p.Pro757=)	DNM1, LOC130002698	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 420895	NM_004408.4(DNM1):c.2312G>C (p.Gly771Ala)	DNM1, LOC130002698 (G771A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1204854	NM_004408.4(DNM1):c.2319-69G>A	DNM1, LOC130002698	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 509483	NM_004408.4(DNM1):c.2319-5C>G	DNM1, LOC130002698	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1303406	NM_004408.4(DNM1):c.2347C>T (p.Arg783Cys)	DNM1, LOC130002698 (R783C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 542679	NM_004408.4(DNM1):c.2364G>A (p.Val788=)	DNM1, LOC130002698	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2501489	NM_004408.4(DNM1):c.2387G>A (p.Arg796Gln)	DNM1, LOC130002698 (R796Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 589843	NM_004408.4(DNM1):c.2390G>T (p.Gly797Val)	DNM1, LOC130002698 (G797V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity