ClinVar for Gene (Select 7301) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243779	NC_000015.9:g.(?_38545387)_(42105565_?)dup	ANKRD63, BAHD1 +49 more	Duplication	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 3185265	NM_006293.4(TYRO3):c.830C>T (p.Pro277Leu)	TYRO3 (P232L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185263	NM_006293.4(TYRO3):c.638C>T (p.Ser213Phe)	TYRO3 (S168F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185262	NM_006293.4(TYRO3):c.309C>A (p.Ser103Arg)	TYRO3 (S103R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185261	NM_006293.4(TYRO3):c.2458G>C (p.Glu820Gln)	TYRO3 (E775Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185260	NM_006293.4(TYRO3):c.2032C>T (p.Arg678Trp)	TYRO3 (R633W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185259	NM_006293.4(TYRO3):c.1330G>A (p.Ala444Thr)	TYRO3 (A399T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185258	NM_006293.4(TYRO3):c.1262G>T (p.Gly421Val)	TYRO3 (G421V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185257	NM_006293.4(TYRO3):c.1092A>T (p.Gln364His)	TYRO3 (Q364H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2619556	NM_006293.4(TYRO3):c.1979A>T (p.Asn660Ile)	TYRO3 (N660I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611673	NM_006293.4(TYRO3):c.2473G>A (p.Asp825Asn)	TYRO3 (D825N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602845	NM_006293.4(TYRO3):c.2059C>T (p.Arg687Cys)	TYRO3 (R687C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556902	NM_006293.4(TYRO3):c.2219A>T (p.Glu740Val)	TYRO3 (E695V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530598	NM_006293.4(TYRO3):c.1289T>C (p.Val430Ala)	TYRO3 (V385A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526704	NM_006293.4(TYRO3):c.1469G>A (p.Arg490His)	TYRO3 (R445H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477554	NM_006293.4(TYRO3):c.1565G>A (p.Arg522Gln)	TYRO3 (R477Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474845	NM_006293.4(TYRO3):c.1855C>T (p.Arg619Trp)	TYRO3 (R574W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474064	NM_006293.4(TYRO3):c.2629C>A (p.Leu877Ile)	TYRO3 (L832I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429362	NM_006293.4(TYRO3):c.666_667insCACTGCCTGCAGCCCCCTTCAACATCACC (p.Ala223fs)	TYRO3 (A178fs +1 more)	Insertion (frameshift variant)	46,XX disorder of sex development	GUncertain significance
Select item 2398604	NM_006293.4(TYRO3):c.202G>C (p.Gly68Arg)	TYRO3 (G68R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385299	NM_006293.4(TYRO3):c.1195G>A (p.Ala399Thr)	TYRO3 (A354T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378997	NM_006293.4(TYRO3):c.284A>G (p.Glu95Gly)	TYRO3 (E95G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375535	NM_006293.4(TYRO3):c.2264C>T (p.Pro755Leu)	TYRO3 (P755L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364321	NM_006293.4(TYRO3):c.2182C>T (p.Arg728Cys)	TYRO3 (R683C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360109	NM_006293.4(TYRO3):c.600G>A (p.Met200Ile)	TYRO3 (M155I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354153	NM_006293.4(TYRO3):c.941C>T (p.Pro314Leu)	TYRO3 (P269L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344214	NM_006293.4(TYRO3):c.1246C>T (p.Arg416Cys)	TYRO3 (R416C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338055	NM_006293.4(TYRO3):c.1564C>G (p.Arg522Gly)	TYRO3 (R522G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316265	NM_006293.4(TYRO3):c.2172G>C (p.Glu724Asp)	TYRO3 (E724D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290852	NM_006293.4(TYRO3):c.2268G>C (p.Glu756Asp)	TYRO3 (E711D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273342	NM_006293.4(TYRO3):c.1534C>T (p.Leu512Phe)	TYRO3 (L467F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272924	NM_006293.4(TYRO3):c.2426G>A (p.Arg809Lys)	TYRO3 (R809K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255963	NM_006293.4(TYRO3):c.1504G>A (p.Asp502Asn)	TYRO3 (D457N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251517	NM_006293.4(TYRO3):c.229G>T (p.Val77Leu)	TYRO3 (V77L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241311	NM_006293.4(TYRO3):c.2086G>A (p.Val696Ile)	TYRO3 (V651I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235335	NM_006293.4(TYRO3):c.1505A>G (p.Asp502Gly)	TYRO3 (D457G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225806	NM_006293.4(TYRO3):c.726T>G (p.Ser242Arg)	TYRO3 (S242R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214370	NM_006293.4(TYRO3):c.2525G>A (p.Gly842Asp)	TYRO3 (G842D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 981851	NM_006293.4(TYRO3):c.1628C>T (p.Ser543Phe)	TYRO3 (S498F +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 980031	GRCh37/hg19 15q15.1(chr15:41869275-42484890)x3	MGA, PLA2G4F +9 more	Copy number gain	not provided	GLikely benign
Select item 784310	NM_006293.4(TYRO3):c.2023G>A (p.Gly675Arg)	TYRO3 (G675R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782786	NM_006293.4(TYRO3):c.1374G>A (p.Thr458=)	TYRO3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769412	NM_006293.4(TYRO3):c.2005G>T (p.Val669Leu)	TYRO3 (V624L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 730048	NM_006293.4(TYRO3):c.2444C>T (p.Ala815Val)	TYRO3 (A770V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 729191	NM_006293.4(TYRO3):c.2445G>T (p.Ala815=)	TYRO3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712154	NM_006293.4(TYRO3):c.549C>T (p.Pro183=)	TYRO3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687641	GRCh37/hg19 15q15.1(chr15:41837513-41869276)x1	TYRO3	Copy number loss	not provided	GUncertain significance
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 57