ClinVar for Gene (Select 7090) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3177822	NM_001105192.3(TLE3):c.973G>A (p.Asp325Asn)	TLE3 (D269N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177821	NM_001105192.3(TLE3):c.875C>G (p.Ser292Cys)	TLE3 (S292C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177820	NM_001105192.3(TLE3):c.443C>T (p.Pro148Leu)	TLE3 (P141L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177819	NM_001105192.3(TLE3):c.151G>T (p.Ala51Ser)	TLE3 (A51S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177818	NM_001105192.3(TLE3):c.1070C>T (p.Pro357Leu)	TLE3 (P348L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684762	GRCh37/hg19 15q23(chr15:69848319-70343771)x3	TLE3	Copy number gain	not provided	GUncertain significance
Select item 2645496	NM_001105192.3(TLE3):c.921C>T (p.Asn307=)	TLE3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618372	NM_001105192.3(TLE3):c.161A>G (p.Lys54Arg)	TLE3 (K54R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615060	NM_001105192.3(TLE3):c.278T>C (p.Met93Thr)	TLE3 (M27T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570545	NM_001105192.3(TLE3):c.1055C>T (p.Ser352Leu)	TLE3 (S343L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538647	NM_001105192.3(TLE3):c.907G>C (p.Asp303His)	TLE3 (D296H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525086	NM_001105192.3(TLE3):c.442C>T (p.Pro148Ser)	TLE3 (P141S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508970	NM_001105192.3(TLE3):c.1016C>T (p.Ser339Leu)	TLE3 (S332L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	BLM, BNC1 +209 more	Copy number gain	not provided	GPathogenic
Select item 2380095	NM_001105192.3(TLE3):c.2137G>A (p.Val713Met)	TLE3 (V706M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354063	NM_001105192.3(TLE3):c.596A>G (p.Asn199Ser)	TLE3 (N199S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352099	NM_001105192.3(TLE3):c.536C>T (p.Thr179Met)	TLE3 (T179M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342035	NM_001105192.3(TLE3):c.1306G>A (p.Ala436Thr)	TLE3 (A366T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333209	NM_001105192.3(TLE3):c.2243C>T (p.Ala748Val)	TLE3 (A739V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332730	NM_001105192.3(TLE3):c.1597C>A (p.Arg533Ser)	TLE3 (R524S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316138	NM_001105192.3(TLE3):c.1598G>A (p.Arg533His)	TLE3 (R528H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295498	NM_001105192.3(TLE3):c.565C>T (p.Leu189Phe)	TLE3 (L182F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270683	NM_001105192.3(TLE3):c.1051+3A>G	TLE3 (I352V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250068	NM_001105192.3(TLE3):c.1789A>G (p.Ile597Val)	TLE3 (I527V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248786	NM_001105192.3(TLE3):c.1661C>G (p.Thr554Ser)	TLE3 (T484S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241420	NM_001105192.3(TLE3):c.761A>C (p.Asn254Thr)	TLE3 (N198T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235332	NM_001105192.3(TLE3):c.754G>A (p.Val252Ile)	TLE3 (V196I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233809	NM_001105192.3(TLE3):c.389C>T (p.Ala130Val)	TLE3 (A130V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230975	NM_001105192.3(TLE3):c.646G>A (p.Gly216Ser)	TLE3 (G160S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213289	NM_001105192.3(TLE3):c.910C>T (p.Leu304Phe)	TLE3 (L248F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210186	NM_001105192.3(TLE3):c.314C>T (p.Ala105Val)	TLE3 (A105V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209799	NM_001105192.3(TLE3):c.245C>T (p.Ala82Val)	TLE3 (A75V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809384	GRCh37/hg19 15q23(chr15:68807665-70981473)x3	ANP32A, CORO2B +8 more	Copy number gain	not provided	GUncertain significance
Select item 1526295	NM_001105192.3(TLE3):c.726A>G (p.Gly242=)	TLE3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980531	GRCh37/hg19 15q23-24.1(chr15:70268937-74098081)x1	BBS4, NR2E3 +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 788450	NM_001105192.3(TLE3):c.2217G>A (p.Ser739=)	TLE3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 735738	NM_001105192.3(TLE3):c.190-7C>T	TLE3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 735181	NM_001105192.3(TLE3):c.1752C>T (p.Asp584=)	TLE3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726428	NM_001105192.3(TLE3):c.615G>T (p.Ser205=)	TLE3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720143	NM_001105192.3(TLE3):c.1845A>G (p.Thr615=)	TLE3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720142	NM_001105192.3(TLE3):c.1848T>C (p.Asp616=)	TLE3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685339	GRCh37/hg19 15q22.33-23(chr15:67369118-70481307)x1	AAGAB, ANP32A +19 more	Copy number loss	not provided	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 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
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic
Select item 221500	GRCh37/hg19 15q23(chr15:69079813-72040847)x3	THAP10, THSD4 +12 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	ADPGK, ADPGK-AS1 +196 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 54