TFIP11[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 145620	GRCh38/hg38 22q11.23-12.1(chr22:25003092-28634004)x1	LOC130067151, LOC130067152 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 147324	GRCh38/hg38 22q12.1(chr22:25685148-28217405)x1	ASPHD2, CPMER +85 more	Copy number loss	See cases	GUncertain significance
Select item 59072	GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1	AP1B1, ASPHD2 +122 more	Copy number loss	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 2359610	NM_001013694.3(SRRD):c.878C>T (p.Thr293Ile)	SRRD, TFIP11 (T293I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3322679	NM_001013694.3(SRRD):c.925G>A (p.Asp309Asn)	SRRD, TFIP11 (D309N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2310283	NM_012143.4(TFIP11):c.2349G>T (p.Glu783Asp)	SRRD, TFIP11 (E752D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401560	NM_012143.4(TFIP11):c.2291T>C (p.Val764Ala)	SRRD, TFIP11 (V733A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481740	NM_012143.4(TFIP11):c.2288G>C (p.Gly763Ala)	SRRD, TFIP11 (G732A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303584	NM_012143.4(TFIP11):c.2248G>A (p.Glu750Lys)	SRRD, TFIP11 (E750K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597828	NM_012143.4(TFIP11):c.2183G>A (p.Arg728Gln)	SRRD, TFIP11 (R728Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605281	NM_012143.4(TFIP11):c.1970A>T (p.His657Leu)	TFIP11 (H657L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176546	NM_012143.4(TFIP11):c.1966A>G (p.Lys656Glu)	TFIP11 (K656E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320653	NM_012143.4(TFIP11):c.1933A>G (p.Ile645Val)	TFIP11 (I614V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325642	NM_012143.4(TFIP11):c.1916T>C (p.Ile639Thr)	TFIP11 (I608T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366032	NM_012143.4(TFIP11):c.1894A>G (p.Met632Val)	TFIP11 (M632V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472097	NM_012143.4(TFIP11):c.1850G>A (p.Gly617Glu)	TFIP11 (G617E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176545	NM_012143.4(TFIP11):c.1766A>G (p.Lys589Arg)	TFIP11 (K558R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553952	NM_012143.4(TFIP11):c.1711C>T (p.Arg571Cys)	TFIP11 (R571C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509880	NM_012143.4(TFIP11):c.1508C>T (p.Pro503Leu)	TFIP11 (P472L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250563	NM_012143.4(TFIP11):c.1469G>A (p.Arg490Gln)	TFIP11 (R459Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176543	NM_012143.4(TFIP11):c.1405G>C (p.Gly469Arg)	TFIP11 (G438R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653009	NM_012143.4(TFIP11):c.1347C>T (p.Thr449=)	TFIP11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2559336	NM_012143.4(TFIP11):c.1346C>T (p.Thr449Ile)	TFIP11 (T449I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623501	NM_012143.4(TFIP11):c.1330G>A (p.Asp444Asn)	TFIP11 (D444N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306766	NM_012143.4(TFIP11):c.1312G>A (p.Glu438Lys)	TFIP11 (E438K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313571	NM_012143.4(TFIP11):c.1205G>A (p.Arg402His)	TFIP11 (R371H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373847	NM_012143.4(TFIP11):c.1204C>T (p.Arg402Cys)	TFIP11 (R402C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361963	NM_012143.4(TFIP11):c.1153C>T (p.Arg385Trp)	TFIP11 (R354W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537860	NM_012143.4(TFIP11):c.1142A>G (p.Glu381Gly)	TFIP11 (E350G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325640	NM_012143.4(TFIP11):c.1028A>G (p.Gln343Arg)	TFIP11 (Q343R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325641	NM_012143.4(TFIP11):c.997C>G (p.Gln333Glu)	TFIP11 (Q333E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176553	NM_012143.4(TFIP11):c.955G>A (p.Glu319Lys)	TFIP11 (E319K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176552	NM_012143.4(TFIP11):c.639A>C (p.Glu213Asp)	TFIP11 (E213D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314996	NM_012143.4(TFIP11):c.615C>G (p.Phe205Leu)	TFIP11 (F174L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322194	NM_012143.4(TFIP11):c.584C>G (p.Ser195Cys)	TFIP11 (S164C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176551	NM_012143.4(TFIP11):c.496C>T (p.Arg166Trp)	LOC126863107, TFIP11 (R135W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351273	NM_012143.4(TFIP11):c.487G>A (p.Val163Ile)	LOC126863107, TFIP11 (V132I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408507	NM_012143.4(TFIP11):c.401G>A (p.Gly134Glu)	LOC126863107, TFIP11 (G103E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176549	NM_012143.4(TFIP11):c.361A>C (p.Thr121Pro)	LOC126863107, TFIP11 (T121P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343911	NM_012143.4(TFIP11):c.269C>T (p.Ala90Val)	LOC126863107, TFIP11 (A59V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568442	NM_012143.4(TFIP11):c.268G>T (p.Ala90Ser)	LOC126863107, TFIP11 (A59S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176548	NM_012143.4(TFIP11):c.247G>C (p.Ala83Pro)	LOC126863107, TFIP11 (A83P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176547	NM_012143.4(TFIP11):c.221A>G (p.Tyr74Cys)	LOC126863107, TFIP11 (Y43C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176544	NM_012143.4(TFIP11):c.149C>T (p.Thr50Ile)	TFIP11 (T50I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461385	NM_012143.4(TFIP11):c.83A>G (p.Asp28Gly)	TFIP11 (D28G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 790472	NM_012143.4(TFIP11):c.23G>A (p.Arg8Gln)	TFIP11 (R8Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2424298	NC_000022.10:g.(?_26142492)_(27026451_?)del	ASPHD2, CRYBA4 +7 more	Deletion	Cataract 23	GUncertain significance
Select item 1807757	GRCh37/hg19 22q12.1-12.2(chr22:26614429-29847680)x1	AP1B1, ASPHD2 +25 more	Copy number loss	not provided	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816215	GRCh37/hg19 22q12.1(chr22:26337910-28489947)x1	HPS4, MIAT +11 more	Copy number loss	not provided	GPathogenic
Select item 816197	GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3	HIC2, HIRA +133 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic

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Items: 66