ClinVar for Gene (Select 100528020) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1342375	NC_000017.11:g.44846894_44962103del	C1QL1, CCDC103 +9 more	Deletion	not provided	GPathogenic
Select item 891213	NM_001258400.2(FAM187A):c.-229C>A	CCDC103, FAM187A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 891212	NM_001258400.2(FAM187A):c.-274T>C	CCDC103, FAM187A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 323593	NM_001258400.2(FAM187A):c.-192G>A	CCDC103, FAM187A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 323592	NM_001258400.2(FAM187A):c.-218G>A	CCDC103, FAM187A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 323591	NM_001258400.2(FAM187A):c.-224C>T	CCDC103, FAM187A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17 +1 more	GUncertain significance
Select item 323590	NM_001258400.2(FAM187A):c.-224C>A	CCDC103, FAM187A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 323589	NM_001258400.2(FAM187A):c.-226C>T	CCDC103, FAM187A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 323588	NM_001258400.2(FAM187A):c.-280C>T	CCDC103, FAM187A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 323587	NM_001258400.2(FAM187A):c.-328C>T	CCDC103, FAM187A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 323585	NM_213607.3(CCDC103):c.627G>A (p.Glu209=)	CCDC103, FAM187A	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic