Related gene-specific medical variations for Gene (Select 868) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3137961	NM_170662.5(CBLB):c.1314C>G (p.Ile438Met)	CBLB, LOC126806757 (I389M +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3057240	NM_170662.5(CBLB):c.1341A>C (p.Leu447=)	CBLB, LOC126806757	Single nucleotide variant (synonymous variant +1 more)	CBLB-related condition	GBenign
Select item 3055764	NM_170662.5(CBLB):c.1272C>T (p.Asp424=)	CBLB, LOC126806757	Single nucleotide variant (synonymous variant +2 more)	CBLB-related condition	GBenign
Select item 2557998	NM_170662.5(CBLB):c.1315A>G (p.Ile439Val)	CBLB, LOC126806757 (I179V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2506978	NM_170662.5(CBLB):c.1308C>G (p.Cys436Trp)	LOC126806757, CBLB (C464W +5 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune disease, multisystem, infantile-onset, 3	GPathogenic
Select item 2506977	NM_170662.5(CBLB):c.1402C>T (p.Arg468Ter)	LOC126806757, CBLB (R496* +6 more)	Single nucleotide variant (nonsense +1 more)	Autoimmune disease, multisystem, infantile-onset, 3	GPathogenic
Select item 2327818	NM_170662.5(CBLB):c.1334C>T (p.Pro445Leu)	CBLB, LOC126806757 (P185L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309783	NM_170662.5(CBLB):c.1208C>T (p.Ser403Leu)	CBLB, LOC126806757 (S143L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 135509	NM_001321790.2(CBLB):c.20C>G (p.Pro7Arg)	CBLB (P7R)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 135508	NM_170662.5(CBLB):c.-14-1G>T	CBLB	Single nucleotide variant (splice acceptor variant)	not specified	Gnot provided
Select item 133830	NM_170662.5(CBLB):c.1193C>T (p.Thr398Met)	CBLB (T398M +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 133829	NM_170662.5(CBLB):c.743G>A (p.Arg248Gln)	CBLB (R248Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 133828	NM_170662.5(CBLB):c.821A>C (p.Gln274Pro)	CBLB (Q274P +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 133827	NM_170662.5(CBLB):c.2881G>A (p.Glu961Lys)	CBLB (E961K +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 133826	NM_170662.5(CBLB):c.2702C>G (p.Ala901Gly)	CBLB (A901G +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 133824	NM_170662.5(CBLB):c.1913T>C (p.Leu638Pro)	CBLB (L638P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 133822	NM_170662.5(CBLB):c.1670C>T (p.Pro557Leu)	CBLB (P557L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 133821	NM_170662.5(CBLB):c.1934A>G (p.His645Arg)	CBLB (H645R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 133820	NM_170662.5(CBLB):c.1860_1862dup (p.Ala621dup)	CBLB	Duplication (inframe_insertion +1 more)	not specified	Gnot provided
Select item 133819	NM_170662.5(CBLB):c.1304G>A (p.Cys435Tyr)	LOC126806757, CBLB (C435Y +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 133818	NM_170662.5(CBLB):c.1396A>G (p.Asn466Asp)	CBLB, LOC126806757 (N466D +6 more)	Single nucleotide variant (missense variant +1 more)	CBLB-related condition	GBenign
Select item 133817	NM_170662.5(CBLB):c.1378A>G (p.Met460Val)	CBLB, LOC126806757 (M460V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided

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Links from Gene

Items: 22