"GeneDx"[submitter] AND "LOC126807318"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59604	GRCh38/hg38 5p15.2-14.3(chr5:13609772-21930280)x1	ANKH, BASP1 +142 more	Copy number loss	See cases	GPathogenic
Select item 144888	GRCh38/hg38 5p15.2(chr5:13802199-14153452)x3	DNAH5, LOC126807318 +11 more	Copy number gain	See cases	GBenign/Likely benign
Select item 57956	GRCh38/hg38 5p15.2(chr5:13829252-14168792)x3	DNAH5, LOC126807318 +13 more	Copy number gain	See cases	GUncertain significance
Select item 1273265	NM_001369.3(DNAH5):c.4950+282T>A	DNAH5, LOC126807318	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232525	NM_001369.3(DNAH5):c.4950+237G>T	DNAH5, LOC126807318	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270025	NM_001369.3(DNAH5):c.4950+205T>C	DNAH5, LOC126807318	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280563	NM_001369.3(DNAH5):c.4950+137C>T	DNAH5, LOC126807318	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271767	NM_001369.3(DNAH5):c.4950+113A>G	DNAH5, LOC126807318	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3365454	NM_001369.3(DNAH5):c.4930A>G (p.Ile1644Val)	DNAH5, LOC126807318 (I1644V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504801	NM_001369.3(DNAH5):c.4925G>T (p.Gly1642Val)	DNAH5, LOC126807318 (G1642V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 525557	NM_001369.3(DNAH5):c.4807C>A (p.Pro1603Thr)	DNAH5, LOC126807318 (P1603T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 258036	NM_001369.3(DNAH5):c.4797-29C>A	DNAH5, LOC126807318	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3 +2 more	GBenign
Select item 1235392	NM_001369.3(DNAH5):c.4797-58T>G	DNAH5, LOC126807318	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174049	NM_001369.3(DNAH5):c.4797-93C>A	DNAH5, LOC126807318	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1254842	NM_001369.3(DNAH5):c.4797-189A>G	DNAH5, LOC126807318	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224068	NM_001369.3(DNAH5):c.4797-306G>A	DNAH5, LOC126807318	Single nucleotide variant (intron variant)	not provided	GBenign