ClinVar for Gene (Select 55346) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325062	NM_018393.4(TCP11L1):c.1001A>G (p.His334Arg)	TCP11L1 (H334R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325061	NM_018393.4(TCP11L1):c.391A>T (p.Ile131Phe)	TCP11L1 (I131F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325060	NM_018393.4(TCP11L1):c.1510A>G (p.Lys504Glu)	TCP11L1 (K504E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325059	NM_018393.4(TCP11L1):c.1370G>A (p.Gly457Asp)	TCP11L1 (G457D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325058	NM_018393.4(TCP11L1):c.622A>G (p.Ile208Val)	TCP11L1 (I208V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325057	NM_018393.4(TCP11L1):c.1073C>T (p.Ala358Val)	TCP11L1 (A358V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175350	NM_018393.4(TCP11L1):c.892A>G (p.Arg298Gly)	LOC126861177, TCP11L1 (R298G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175349	NM_018393.4(TCP11L1):c.744G>T (p.Lys248Asn)	TCP11L1 (K248N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175348	NM_018393.4(TCP11L1):c.322G>A (p.Val108Ile)	TCP11L1 (V108I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175347	NM_018393.4(TCP11L1):c.26A>G (p.Asn9Ser)	TCP11L1 (N9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175346	NM_018393.4(TCP11L1):c.226A>G (p.Met76Val)	TCP11L1 (M76V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175345	NM_018393.4(TCP11L1):c.1198G>A (p.Val400Met)	TCP11L1 (V400M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175344	NM_018393.4(TCP11L1):c.1122T>G (p.Ile374Met)	TCP11L1 (I374M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175343	NM_018393.4(TCP11L1):c.1096G>A (p.Asp366Asn)	TCP11L1 (D366N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063213	GRCh37/hg19 11p13(chr11:32963206-33652440)x1	CSTF3, DEPDC7 +5 more	Copy number loss	not specified	GUncertain significance
Select item 2628002	NM_018393.4(TCP11L1):c.391A>G (p.Ile131Val)	TCP11L1 (I131V)	Single nucleotide variant (missense variant)	Exstrophy-epispadias complex	GUncertain significance
Select item 2599391	NM_018393.4(TCP11L1):c.1358A>G (p.Tyr453Cys)	TCP11L1 (Y453C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557396	NM_018393.4(TCP11L1):c.1480T>C (p.Phe494Leu)	TCP11L1 (F494L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550134	NM_018393.4(TCP11L1):c.645T>G (p.Ile215Met)	TCP11L1 (I215M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546531	NM_018393.4(TCP11L1):c.1040G>A (p.Gly347Glu)	TCP11L1 (G347E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523810	NM_018393.4(TCP11L1):c.563G>A (p.Gly188Glu)	TCP11L1 (G188E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513140	NM_018393.4(TCP11L1):c.217G>A (p.Val73Ile)	TCP11L1 (V73I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366753	NM_018393.4(TCP11L1):c.44A>C (p.Lys15Thr)	TCP11L1 (K15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341856	NM_018393.4(TCP11L1):c.1042G>T (p.Ala348Ser)	TCP11L1 (A348S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337914	NM_018393.4(TCP11L1):c.350G>A (p.Ser117Asn)	TCP11L1 (S117N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325569	NM_018393.4(TCP11L1):c.118A>G (p.Ile40Val)	TCP11L1 (I40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283460	NM_018393.4(TCP11L1):c.232C>G (p.Leu78Val)	TCP11L1 (L78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281860	NM_018393.4(TCP11L1):c.158C>T (p.Pro53Leu)	TCP11L1 (P53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281165	NM_018393.4(TCP11L1):c.518C>T (p.Ala173Val)	TCP11L1 (A173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278479	NM_018393.4(TCP11L1):c.1303G>A (p.Asp435Asn)	TCP11L1 (D435N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240536	NM_018393.4(TCP11L1):c.403G>A (p.Gly135Arg)	TCP11L1 (G135R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232206	NM_018393.4(TCP11L1):c.1285C>A (p.Gln429Lys)	TCP11L1 (Q429K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232205	NM_018393.4(TCP11L1):c.1284C>G (p.Ile428Met)	TCP11L1 (I428M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214679	NM_018393.4(TCP11L1):c.395A>G (p.Lys132Arg)	TCP11L1 (K132R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527635	GRCh37/hg19 11p13-12(chr11:32782607-36404823)	ABTB2, APIP +26 more	Copy number gain	not specified	GUncertain significance
Select item 1340572	GRCh37/hg19 11p13(chr11:33050614-33532548)x3	CSTF3, DEPDC7 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1184314	NC_000011.10:g.32963226_33107103dup	CSTF3, DEPDC7 +10 more	Duplication	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979924	GRCh37/hg19 11p13(chr11:32975924-33678760)x3	CSTF3, KIAA1549L +5 more	Copy number gain	not provided	GUncertain significance
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 563875	GRCh37/hg19 11p14.1-13(chr11:29883001-33865721)x1	ARL14EP, C11orf91 +23 more	Copy number loss	not provided	GPathogenic
Select item 563870	GRCh37/hg19 11p13(chr11:32573618-34130228)x1	LMO2, NAT10 +14 more	Copy number loss	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 395557	GRCh37/hg19 11p13(chr11:33038111-33498352)x3	CSTF3, DEPDC7 +3 more	Copy number gain	See cases	GUncertain significance
Select item 395339	GRCh37/hg19 11p13(chr11:31210842-35436121)x1	ABTB2, APIP +30 more	Copy number loss	See cases	GPathogenic
Select item 394748	GRCh37/hg19 11p13(chr11:33049228-33249368)x3	CSTF3, DEPDC7 +2 more	Copy number gain	See cases	GUncertain significance
Select item 393967	GRCh37/hg19 11p13(chr11:33038111-33076221)x3	DEPDC7, TCP11L1	Copy number gain	See cases	GUncertain significance
Select item 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic
Select item 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	See cases	GPathogenic
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 147329	GRCh38/hg38 11p13(chr11:32986646-33573778)x3	CSTF3, CSTF3-DT +26 more	Copy number gain	See cases	GUncertain significance
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 56995	GRCh38/hg38 11p13(chr11:33031527-33620145)x3	CSTF3, CSTF3-DT +22 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 62