Related gene-specific medical variations for Gene (Select 388389) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3389209	NM_001258400.2(FAM187A):c.1089G>A (p.Gly363=)	DNAAF19, GFAP +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3341738	NM_001258400.2(FAM187A):c.1116T>G (p.Pro372=)	DNAAF19, FAM187A +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 891213	NM_213607.3(CCDC103):c.*784C>A	CCDC103, FAM187A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 891212	NM_213607.3(CCDC103):c.*739T>C	CCDC103, FAM187A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 891211	NM_213607.3(CCDC103):c.*584G>A	CCDC103, GFAP	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 323593	NM_213607.3(CCDC103):c.*821G>A	GFAP, CCDC103 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 323592	NM_213607.3(CCDC103):c.*795G>A	CCDC103, FAM187A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 323591	NM_213607.3(CCDC103):c.*789C>T	CCDC103, FAM187A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 323590	NM_213607.3(CCDC103):c.*789C>A	CCDC103, FAM187A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 323589	NM_213607.3(CCDC103):c.*787C>T	CCDC103, FAM187A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 323588	NM_213607.3(CCDC103):c.*733C>T	GFAP, CCDC103 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 323587	NM_213607.3(CCDC103):c.*685C>T	CCDC103, FAM187A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17 +1 more	GUncertain significance