TPST2[gene] - ClinVar

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Items: 42

	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 151022	GRCh38/hg38 22q12.1(chr22:26535859-27296063)x1	CRYBA4, CRYBB1 +34 more	Copy number loss	See cases	GUncertain significance
Select item 2383199	NM_003595.5(TPST2):c.1040G>A (p.Arg347Gln)	TPST2 (R401Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387505	NM_003595.5(TPST2):c.1039C>T (p.Arg347Trp)	TPST2 (R347W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181694	NM_003595.5(TPST2):c.989A>T (p.Asn330Ile)	TPST2 (N384I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377013	NM_003595.5(TPST2):c.898A>C (p.Lys300Gln)	TPST2 (K300Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331838	NM_003595.5(TPST2):c.890C>T (p.Ala297Val)	TPST2 (A351V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598505	NM_003595.5(TPST2):c.868A>G (p.Ile290Val)	TPST2 (I290V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470256	NM_003595.5(TPST2):c.854C>T (p.Ser285Phe)	TPST2 (S285F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270286	NM_003595.5(TPST2):c.847G>A (p.Glu283Lys)	TPST2 (E283K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322026	NM_003595.5(TPST2):c.787G>T (p.Ala263Ser)	TPST2 (A263S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181693	NM_003595.5(TPST2):c.769G>A (p.Gly257Ser)	TPST2 (G257S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181692	NM_003595.5(TPST2):c.749A>G (p.Lys250Arg)	TPST2 (K304R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247075	NM_003595.5(TPST2):c.739C>T (p.Arg247Cys)	TPST2 (R247C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181689	NM_003595.5(TPST2):c.646A>G (p.Lys216Glu)	TPST2 (K270E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215508	NM_003595.5(TPST2):c.277G>C (p.Glu93Gln)	TPST2 (E147Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480833	NM_003595.5(TPST2):c.130G>A (p.Ala44Thr)	TPST2 (A44T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531555	NM_003595.5(TPST2):c.124C>T (p.Arg42Trp)	TPST2 (R96W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468003	NM_003595.5(TPST2):c.107C>T (p.Ala36Val)	TPST2 (A36V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181690	NM_003595.5(TPST2):c.73G>A (p.Gly25Arg)	TPST2 (G25R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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: 42