ClinVar for Gene (Select 8320) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3089275	NM_001278182.2(EOMES):c.776G>A (p.Gly259Glu)	EOMES (G259E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089274	NM_001278182.2(EOMES):c.667G>A (p.Gly223Ser)	EOMES (G223S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089272	NM_001278182.2(EOMES):c.391A>G (p.Thr131Ala)	EOMES, LOC129936390 (T131A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089270	NM_001278182.2(EOMES):c.2083A>T (p.Met695Leu)	EOMES (M400L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089269	NM_001278182.2(EOMES):c.19C>T (p.Leu7Phe)	EOMES (L7F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089268	NM_001278182.2(EOMES):c.1841C>G (p.Thr614Arg)	EOMES (T595R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089267	NM_001278182.2(EOMES):c.1520G>A (p.Arg507His)	EOMES (R212H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089265	NM_001278182.2(EOMES):c.1448T>C (p.Ile483Thr)	EOMES (I483T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3056950	NM_001278182.2(EOMES):c.369C>A (p.Ala123=)	EOMES, LOC129936390	Single nucleotide variant (synonymous variant +1 more)	EOMES-related disorder	GLikely benign
Select item 3055689	NM_001278182.2(EOMES):c.375C>G (p.Ala125=)	EOMES, LOC129936390	Single nucleotide variant (synonymous variant +1 more)	EOMES-related disorder	GLikely benign
Select item 3055317	NM_001278182.2(EOMES):c.360CGC[6] (p.Ala130del)	EOMES, LOC129936390 (A130del)	Microsatellite (inframe deletion +1 more)	EOMES-related disorder	GLikely benign
Select item 3049265	NM_001278182.2(EOMES):c.360C>T (p.Ala120=)	EOMES, LOC129936390	Single nucleotide variant (synonymous variant +1 more)	EOMES-related disorder	GLikely benign
Select item 3048191	NM_001278182.2(EOMES):c.99T>A (p.Ala33=)	EOMES	Single nucleotide variant (synonymous variant +1 more)	EOMES-related disorder	GLikely benign
Select item 3046443	NM_001278182.2(EOMES):c.609C>T (p.Pro203=)	EOMES	Single nucleotide variant (synonymous variant +1 more)	EOMES-related disorder	GLikely benign
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2653639	NM_001278182.2(EOMES):c.378C>G (p.Ala126=)	EOMES, LOC129936390	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653638	NM_001278182.2(EOMES):c.384T>G (p.Ala128=)	EOMES, LOC129936390	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2618756	NM_001278182.2(EOMES):c.32C>T (p.Ser11Leu)	EOMES (S11L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609545	NM_001278182.2(EOMES):c.352G>C (p.Ala118Pro)	EOMES, LOC129936390 (A118P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591195	NM_001278182.2(EOMES):c.263C>T (p.Ala88Val)	EOMES (A88V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547928	NM_001278182.2(EOMES):c.769G>T (p.Gly257Cys)	EOMES (G257C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545984	NM_001278182.2(EOMES):c.598G>A (p.Val200Met)	EOMES (V200M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544383	NM_001278182.2(EOMES):c.212C>A (p.Ala71Asp)	EOMES (A71D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532538	NM_001278182.2(EOMES):c.643G>A (p.Gly215Ser)	EOMES (G215S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524998	NM_001278182.2(EOMES):c.2095T>C (p.Tyr699His)	EOMES (Y699H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487328	NM_001278182.2(EOMES):c.62C>G (p.Pro21Arg)	EOMES (P21R)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2481649	NM_001278182.2(EOMES):c.88G>T (p.Gly30Cys)	EOMES (G30C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474442	NM_001278182.2(EOMES):c.544G>C (p.Gly182Arg)	EOMES, LOC129936390 (G182R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411301	NM_001278182.2(EOMES):c.1597C>T (p.Pro533Ser)	EOMES (P514S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380028	NM_001278182.2(EOMES):c.424G>C (p.Glu142Gln)	EOMES, LOC129936390 (E142Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380027	NM_001278182.2(EOMES):c.277G>A (p.Ala93Thr)	EOMES (A93T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365465	NM_001278182.2(EOMES):c.187G>A (p.Ala63Thr)	EOMES (A63T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352482	NM_001278182.2(EOMES):c.211G>A (p.Ala71Thr)	EOMES (A71T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338940	NM_001278182.2(EOMES):c.1612C>T (p.Leu538Phe)	EOMES (L243F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308652	NM_001278182.2(EOMES):c.850C>G (p.Gln284Glu)	EOMES (Q284E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295513	NM_001278182.2(EOMES):c.1255A>T (p.Thr419Ser)	EOMES (T419S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291165	NM_001278182.2(EOMES):c.666C>A (p.Ser222Arg)	EOMES (S222R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291164	NM_001278182.2(EOMES):c.665G>A (p.Ser222Asn)	EOMES (S222N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257664	NM_001278182.2(EOMES):c.298C>T (p.Pro100Ser)	EOMES (P100S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250960	NM_001278182.2(EOMES):c.209C>T (p.Ala70Val)	EOMES (A70V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244372	NM_001278182.2(EOMES):c.850C>A (p.Gln284Lys)	EOMES (Q284K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527002	GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140)	AZI2, CMC1 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	AZI2, CCR4 +93 more	Deletion	not provided	GPathogenic
Select item 814430	GRCh37/hg19 3p24.2-24.1(chr3:25901794-29520717)x1	AZI2, EOMES +6 more	Copy number loss	not provided	GUncertain significance
Select item 791474	NM_001278182.2(EOMES):c.16C>G (p.Gln6Glu)	EOMES (Q6E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 771851	NM_001278182.2(EOMES):c.1176C>T (p.Ser392=)	EOMES	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771348	NM_001278182.2(EOMES):c.358_359insGCG (p.Ala119_Ala120insGly)	EOMES, LOC129936390	Insertion (inframe_insertion +1 more)	not provided	GBenign
Select item 727252	NM_001278182.2(EOMES):c.339G>A (p.Glu113=)	EOMES, LOC129936390	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 718935	NM_001278182.2(EOMES):c.271A>C (p.Ser91Arg)	EOMES (S91R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 593475	NM_001278182.2(EOMES):c.117G>A (p.Ala39=)	EOMES	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 500198	NM_001278182.2(EOMES):c.1761C>T (p.Thr587=)	EOMES	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 497062	NM_001278182.2(EOMES):c.360CGC[9] (p.Ala129_Ala130dup)	EOMES, LOC129936390	Microsatellite (inframe_insertion +1 more)	not specified	GLikely benign
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 426870	NM_001278182.2(EOMES):c.692A>G (p.Tyr231Cys)	EOMES (Y231C)	Single nucleotide variant (missense variant +1 more)	EOMES-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 218588	NM_001278182.2(EOMES):c.436C>T (p.Leu146Phe)	EOMES, LOC129936390 (L146F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 210936	NM_001278182.2(EOMES):c.358_359insGCGCCG (p.Ala119_Ala120insGlyAla)	EOMES, LOC129936390	Insertion (inframe_insertion +1 more)	not specified	GConflicting classifications of pathogenicity
Select item 193314	NM_001278182.2(EOMES):c.360CGC[8] (p.Ala130dup)	EOMES, LOC129936390	Microsatellite (inframe_insertion +1 more)	not specified +1 more	GBenign/Likely benign
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 137212	NM_001278182.2(EOMES):c.359C>G (p.Ala120Gly)	EOMES, LOC129936390 (A120G)	Single nucleotide variant (intron variant +1 more)	not specified	GBenign
Select item 137211	NM_001278182.2(EOMES):c.1923C>T (p.Pro641=)	EOMES	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 70