Related gene-specific medical variations for Gene (Select 84317) - ClinVar - NCBI

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

Links from Gene

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247572	NC_000002.11:g.(?_131098461)_(131099698_?)del	CCDC115	Deletion	not provided	GPathogenic
Select item 2439785	NM_032357.4(CCDC115):c.469C>T (p.Arg157Cys)	CCDC115 (R149C +2 more)	Single nucleotide variant (missense variant +1 more)	CCDC115-CDG	GUncertain significance
Select item 2264956	NM_032357.4(CCDC115):c.25G>A (p.Glu9Lys)	CCDC115, LOC129934769 (E9K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1965301	NM_032357.4(CCDC115):c.36G>C (p.Ser12=)	CCDC115, LOC129934769	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1195441	NM_001321118.1(CCDC115):c.-370G>A	CCDC115, LOC129934769	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 741032	NM_032357.4(CCDC115):c.39G>T (p.Leu13=)	CCDC115, LOC129934769	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 445648	NM_032357.4(CCDC115):c.1A>G (p.Met1Val)	LOC129934769, CCDC115 (M1V)	Single nucleotide variant (missense variant +3 more)	not provided	GConflicting classifications of pathogenicity
Select item 221791	GRCh37/hg19 2q21.1(chr2:130982377-131096727)x3	CCDC115	Copy number gain	Premature ovarian failure	GBenign
Select item 218963	NM_032357.4(CCDC115):c.31G>T (p.Asp11Tyr)	CCDC115, LOC129934769 (D11Y)	Single nucleotide variant (missense variant +2 more)	Congenital disorders of glycosylation type II +1 more	GPathogenic