"Invitae"[submitter] AND "LOC126859668"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2050625	NM_001206927.2(DNAH8):c.1414A>G (p.Met472Val)	DNAH8, LOC126859668 (M472V +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1040020	NM_001206927.2(DNAH8):c.1417G>A (p.Ala473Thr)	DNAH8, LOC126859668 (A256T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2120688	NM_001206927.2(DNAH8):c.1428A>T (p.Ile476=)	DNAH8, LOC126859668	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1352959	NM_001206927.2(DNAH8):c.1460A>C (p.His487Pro)	DNAH8, LOC126859668 (H270P +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1087698	NM_001206927.2(DNAH8):c.1461C>T (p.His487=)	DNAH8, LOC126859668	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2019512	NM_001206927.2(DNAH8):c.1478A>C (p.Tyr493Ser)	DNAH8, LOC126859668 (Y276S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 742149	NM_001206927.2(DNAH8):c.1491G>A (p.Glu497=)	DNAH8, LOC126859668	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1365472	NM_001206927.2(DNAH8):c.1515+3A>G	DNAH8, LOC126859668	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2150604	NM_001206927.2(DNAH8):c.1515+18G>A	DNAH8, LOC126859668	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GBenign