Related gene-specific medical variations for Gene (Select 23092) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 395651	GRCh37/hg19 5q31.3(chr5:142176123-142241875)x3	ARHGAP26	Copy number gain	See cases	GBenign
Select item 133546	NM_001135608.3(ARHGAP26):c.2099+69A>G	ARHGAP26 (H723R)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 133545	NM_001135608.3(ARHGAP26):c.307C>T (p.Arg103Trp)	ARHGAP26 (R103W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 133544	NM_001135608.3(ARHGAP26):c.2185G>A (p.Asp729Asn)	ARHGAP26 (D784N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 133543	NM_001135608.3(ARHGAP26):c.1829C>T (p.Thr610Ile)	ARHGAP26 (T610I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 133542	NM_001135608.3(ARHGAP26):c.1775A>G (p.Lys592Arg)	ARHGAP26 (K592R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 133541	NM_001135608.3(ARHGAP26):c.1245delinsGTGGGG (p.Val416fs)	ARHGAP26 (V380fs +1 more)	Indel (frameshift variant +1 more)	not specified	Gnot provided
Select item 133540	NM_001135608.3(ARHGAP26):c.1107T>C (p.Pro369=)	ARHGAP26	Single nucleotide variant (synonymous variant +1 more)	not specified	Gnot provided
Select item 5054	ARHGAP26, 74-BP INS	ARHGAP26	Insertion	Juvenile myelomonocytic leukemia	GPathogenic
Select item 5053	ARHGAP26, 52-BP INS	ARHGAP26	Insertion	Juvenile myelomonocytic leukemia	GPathogenic