"GeneDx"[submitter] AND "LOC126860772"[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 772280	NM_052844.4(DYNC2I2):c.1116G>A (p.Thr372=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GBenign/Likely benign
Select item 474844	NM_052844.4(DYNC2I2):c.1066G>A (p.Gly356Ser)	DYNC2I2, LOC126860772 (G356S)	Single nucleotide variant (missense variant)	DYNC2I2-related condition +2 more	GBenign/Likely benign
Select item 1179325	NM_052844.4(DYNC2I2):c.981+59G>A	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 474851	NM_052844.4(DYNC2I2):c.957G>A (p.Leu319=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GBenign
Select item 474850	NM_052844.4(DYNC2I2):c.888A>G (p.Leu296=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 516214	NM_052844.4(DYNC2I2):c.873C>T (p.Thr291=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 489167	NM_052844.4(DYNC2I2):c.814-5C>G	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1194427	NM_052844.4(DYNC2I2):c.814-119T>C	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	not provided	GLikely benign