ClinVar for Gene (Select 126859668) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2538387	NM_001206927.2(DNAH8):c.1506G>T (p.Leu502Phe)	DNAH8, LOC126859668 (L285F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2150604	NM_001206927.2(DNAH8):c.1515+18G>A	DNAH8, LOC126859668	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GBenign
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 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 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 1365472	NM_001206927.2(DNAH8):c.1515+3A>G	DNAH8, LOC126859668	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
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 +1 more	GUncertain significance
Select item 1271924	NM_001206927.2(DNAH8):c.1408-173G>A	DNAH8, LOC126859668	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262571	NM_001206927.2(DNAH8):c.1515+330G>C	DNAH8, LOC126859668	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262425	NM_001206927.2(DNAH8):c.1408-78A>G	DNAH8, LOC126859668	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250220	NM_001206927.2(DNAH8):c.1515+201A>T	DNAH8, LOC126859668	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249195	NM_001206927.2(DNAH8):c.1408-322A>G	DNAH8, LOC126859668	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237594	NM_001206927.2(DNAH8):c.1408-292A>G	DNAH8, LOC126859668	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 742149	NM_001206927.2(DNAH8):c.1491G>A (p.Glu497=)	DNAH8, LOC126859668	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic