ClinVar for Gene (Select 868) - ClinVar

Links from Gene

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263634	NM_170662.5(CBLB):c.2549A>G (p.Asp850Gly)	CBLB (D757G +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263633	NM_170662.5(CBLB):c.2152T>G (p.Ser718Ala)	CBLB (S458A +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263632	NM_170662.5(CBLB):c.1807C>A (p.Gln603Lys)	CBLB (Q160K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137976	NM_170662.5(CBLB):c.359G>A (p.Arg120Gln)	CBLB (R142Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137975	NM_170662.5(CBLB):c.2620A>G (p.Arg874Gly)	CBLB (R565G +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137974	NM_170662.5(CBLB):c.2576T>C (p.Phe859Ser)	CBLB (F416S +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137973	NM_170662.5(CBLB):c.2540C>T (p.Ser847Leu)	CBLB (S803L +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137971	NM_170662.5(CBLB):c.2115T>A (p.Asp705Glu)	CBLB (D727E +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137970	NM_170662.5(CBLB):c.2110G>A (p.Glu704Lys)	CBLB (E261K +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137968	NM_170662.5(CBLB):c.1931G>T (p.Arg644Leu)	CBLB (R595L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137967	NM_170662.5(CBLB):c.1918C>T (p.Arg640Trp)	CBLB (R197W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137966	NM_170662.5(CBLB):c.1786C>T (p.Arg596Trp)	CBLB (R200W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137965	NM_170662.5(CBLB):c.1628C>T (p.Pro543Leu)	CBLB (P147L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137964	NM_170662.5(CBLB):c.1560A>T (p.Arg520Ser)	CBLB (R124S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137963	NM_170662.5(CBLB):c.1560A>C (p.Arg520Ser)	CBLB (R542S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137962	NM_170662.5(CBLB):c.1423A>T (p.Asn475Tyr)	CBLB (N32Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3062682	GRCh37/hg19 3q13.11-13.12(chr3:104543802-107063286)x3	ALCAM, CBLB	Copy number gain	not specified	GUncertain significance
Select item 3060876	NM_170662.5(CBLB):c.1863G>A (p.Ala621=)	CBLB	Single nucleotide variant (synonymous variant +1 more)	CBLB-related disorder	GBenign
Select item 3060344	NM_170662.5(CBLB):c.1581G>A (p.Thr527=)	CBLB	Single nucleotide variant (synonymous variant +1 more)	CBLB-related disorder	GBenign
Select item 3059767	NM_170662.5(CBLB):c.840C>T (p.Pro280=)	CBLB	Single nucleotide variant (synonymous variant +2 more)	CBLB-related disorder	GBenign
Select item 3057240	NM_170662.5(CBLB):c.1341A>C (p.Leu447=)	CBLB, LOC126806757	Single nucleotide variant (synonymous variant +1 more)	CBLB-related disorder	GBenign
Select item 3056926	NM_170662.5(CBLB):c.2613T>C (p.Pro871=)	CBLB	Single nucleotide variant (synonymous variant +1 more)	CBLB-related disorder	GBenign
Select item 3055764	NM_170662.5(CBLB):c.1272C>T (p.Asp424=)	CBLB, LOC126806757	Single nucleotide variant (synonymous variant +2 more)	CBLB-related disorder	GBenign
Select item 3055619	NM_170662.5(CBLB):c.1053C>T (p.Asp351=)	CBLB	Single nucleotide variant (synonymous variant +2 more)	CBLB-related disorder	GBenign
Select item 3053848	NM_170662.5(CBLB):c.588A>T (p.Val196=)	CBLB	Single nucleotide variant (synonymous variant +3 more)	CBLB-related disorder	GLikely benign
Select item 3050124	NM_170662.5(CBLB):c.1620A>G (p.Gln540=)	CBLB	Single nucleotide variant (synonymous variant +1 more)	CBLB-related disorder	GLikely benign
Select item 3043847	NM_170662.5(CBLB):c.1710A>G (p.Arg570=)	CBLB	Single nucleotide variant (synonymous variant +1 more)	CBLB-related disorder	GLikely benign
Select item 3040464	NM_170662.5(CBLB):c.2331A>G (p.Pro777=)	CBLB	Single nucleotide variant (synonymous variant +2 more)	CBLB-related disorder	GBenign
Select item 3038686	NM_170662.5(CBLB):c.2682A>G (p.Ser894=)	CBLB	Single nucleotide variant (synonymous variant +1 more)	CBLB-related disorder	GBenign
Select item 3037193	NM_170662.5(CBLB):c.825A>G (p.Lys275=)	CBLB	Single nucleotide variant (synonymous variant +2 more)	CBLB-related disorder	GBenign
Select item 2654018	NM_170662.5(CBLB):c.594A>G (p.Arg198=)	CBLB	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2654017	NM_170662.5(CBLB):c.1879G>C (p.Gly627Arg)	CBLB (G184R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2600745	NM_170662.5(CBLB):c.574G>A (p.Val192Ile)	CBLB (V143I +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2593273	NM_170662.5(CBLB):c.485C>A (p.Pro162His)	CBLB (P162H +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2589567	NM_170662.5(CBLB):c.2174A>G (p.His725Arg)	CBLB (H282R +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
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 2550401	NM_170662.5(CBLB):c.2665T>A (p.Tyr889Asn)	CBLB (Y449N +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545074	NM_170662.5(CBLB):c.2107G>C (p.Glu703Gln)	CBLB (E443Q +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2540461	NM_170662.5(CBLB):c.1843C>A (p.Pro615Thr)	CBLB (P172T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529730	NM_170662.5(CBLB):c.1625A>C (p.Lys542Thr)	CBLB (K282T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513089	NM_170662.5(CBLB):c.1802C>G (p.Thr601Ser)	CBLB (T205S +6 more)	Single nucleotide variant (missense variant +1 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 2506976	NM_170662.5(CBLB):c.770A>T (p.His257Leu)	CBLB (H285L +3 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune disease, multisystem, infantile-onset, 3	GPathogenic
Select item 2494085	NM_170662.5(CBLB):c.2531G>A (p.Arg844Gln)	CBLB (R795Q +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469619	NM_170662.5(CBLB):c.2801C>G (p.Ala934Gly)	CBLB (A491G +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408271	NM_170662.5(CBLB):c.2197G>C (p.Val733Leu)	CBLB (V290L +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2382199	NM_170662.5(CBLB):c.13A>G (p.Met5Val)	CBLB (M27V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365689	NM_170662.5(CBLB):c.5C>A (p.Ala2Glu)	CBLB (A2E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2344292	NM_170662.5(CBLB):c.2716C>G (p.Pro906Ala)	CBLB (P463A +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336363	NM_170662.5(CBLB):c.562G>C (p.Asp188His)	CBLB (D188H +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2332490	NM_170662.5(CBLB):c.2665T>C (p.Tyr889His)	CBLB (Y449H +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2316809	NM_170662.5(CBLB):c.2176T>C (p.Cys726Arg)	CBLB (C677R +6 more)	Single nucleotide variant (missense variant +2 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 2305538	NM_170662.5(CBLB):c.2726G>A (p.Arg909Gln)	CBLB (R466Q +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302428	NM_170662.5(CBLB):c.2310T>G (p.Asp770Glu)	CBLB (D798E +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2281450	NM_170662.5(CBLB):c.2017C>T (p.Pro673Ser)	CBLB (P673S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271408	NM_170662.5(CBLB):c.2006C>T (p.Pro669Leu)	CBLB (P273L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269198	NM_170662.5(CBLB):c.2026C>G (p.Pro676Ala)	CBLB (P704A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241599	NM_170662.5(CBLB):c.1820G>A (p.Cys607Tyr)	CBLB (C607Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234273	NM_170662.5(CBLB):c.1811T>G (p.Leu604Arg)	CBLB (L555R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1341297	GRCh37/hg19 3q13.11(chr3:103880751-105922594)x3	ALCAM, CBLB	Copy number gain	not provided	GUncertain significance
Select item 814468	GRCh37/hg19 3q12.3-13.2(chr3:101812245-112174485)x1	ABHD10, ALCAM +29 more	Copy number loss	not provided	GPathogenic
Select item 786016	NM_170662.5(CBLB):c.1161T>C (p.Pro387=)	CBLB	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 786015	NM_170662.5(CBLB):c.2009G>A (p.Arg670Gln)	CBLB (R274Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 774844	NM_170662.5(CBLB):c.2067G>A (p.Pro689=)	CBLB	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 147715	GRCh38/hg38 3q13.11(chr3:105422852-105685449)x1	ALCAM, CBLB	Copy number loss	See cases	GBenign
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
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 133825	NM_170662.5(CBLB):c.2647A>G (p.Asn883Asp)	CBLB (N883D +12 more)	Single nucleotide variant (missense variant +1 more)	CBLB-related disorder	GBenign
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 133823	NM_170662.5(CBLB):c.1865G>C (p.Ser622Thr)	CBLB (S622T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
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 disorder	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
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 57243	GRCh38/hg38 3q13.11-13.13(chr3:103692220-109605902)x1	LOC129389108, LOC129389109 +89 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 96