TSR2[gene] and "single gene"[properties] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2414349	NM_058163.3(TSR2):c.7G>A (p.Gly3Ser)	TSR2 (G3S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2076580	NM_058163.3(TSR2):c.12T>C (p.Ala4=)	TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2302057	NM_058163.3(TSR2):c.14C>T (p.Ala5Val)	TSR2 (A5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2635895	NM_058163.3(TSR2):c.17A>G (p.Glu6Gly)	TSR2 (E6G)	Single nucleotide variant (missense variant +1 more)	TSR2-related disorder	GUncertain significance
Select item 2262503	NM_058163.3(TSR2):c.22G>C (p.Ala8Pro)	TSR2 (A8P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2867263	NM_058163.3(TSR2):c.25C>A (p.Arg9=)	TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2059210	NM_058163.3(TSR2):c.45G>T (p.Gly15=)	TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2621096	NM_058163.3(TSR2):c.61G>C (p.Glu21Gln)	TSR2 (E21Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1269390	NM_058163.3(TSR2):c.82-58C>T	TSR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2798751	NM_058163.3(TSR2):c.82A>G (p.Ile28Val)	TSR2 (I28V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1695305	NM_058163.3(TSR2):c.104G>C (p.Gly35Ala)	TSR2 (G35A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2191008	NM_058163.3(TSR2):c.138G>C (p.Leu46=)	TSR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2150704	NM_058163.3(TSR2):c.143G>A (p.Gly48Asp)	TSR2 (G48D)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3251902	NM_058163.3(TSR2):c.166C>T (p.Arg56Cys)	TSR2 (R56C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2660661	NM_058163.3(TSR2):c.166C>A (p.Arg56Ser)	TSR2 (R56S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2775965	NM_058163.3(TSR2):c.167G>T (p.Arg56Leu)	TSR2 (R56L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2822709	NM_058163.3(TSR2):c.168C>G (p.Arg56=)	TSR2	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1974498	NM_058163.3(TSR2):c.172+20C>A	TSR2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2179140	NM_058163.3(TSR2):c.173-6A>G	TSR2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2787332	NM_058163.3(TSR2):c.187G>C (p.Asp63His)	TSR2 (D63H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 187847	NM_058163.3(TSR2):c.191A>G (p.Glu64Gly)	TSR2 (E64G)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	GPathogenic
Select item 2555211	NM_058163.3(TSR2):c.212A>G (p.Glu71Gly)	TSR2 (E71G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2959844	NM_058163.3(TSR2):c.223A>G (p.Asn75Asp)	TSR2 (N75D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2062188	NM_058163.3(TSR2):c.225C>T (p.Asn75=)	TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 709009	NM_058163.3(TSR2):c.234T>C (p.Asp78=)	TSR2	Single nucleotide variant (synonymous variant +1 more)	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis +1 more	GBenign/Likely benign
Select item 2860744	NM_058163.3(TSR2):c.264+13C>T	TSR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2521463	NM_058163.3(TSR2):c.292C>T (p.His98Tyr)	TSR2 (H95Y +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2814309	NM_058163.3(TSR2):c.304A>C (p.Arg102=)	TSR2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2163892	NM_058163.3(TSR2):c.318T>C (p.Ala106=)	TSR2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2526099	NM_058163.3(TSR2):c.341G>C (p.Cys114Ser)	TSR2 (C19S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1973525	NM_058163.3(TSR2):c.442-17_442-16del	TSR2	Deletion (intron variant)	not provided	GUncertain significance
Select item 2043716	NM_058163.3(TSR2):c.442-8C>T	TSR2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3067591	NM_058163.3(TSR2):c.442-4C>T	TSR2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2492820	NM_058163.3(TSR2):c.452C>T (p.Thr151Met)	TSR2 (T151M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1974978	NM_058163.3(TSR2):c.462G>A (p.Gly154=)	TSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111455	NM_058163.3(TSR2):c.494A>C (p.Glu165Ala)	TSR2 (E70A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636867	NM_058163.3(TSR2):c.505C>G (p.Pro169Ala)	TSR2 (P166A +2 more)	Single nucleotide variant (missense variant)	TSR2-related disorder	GUncertain significance
Select item 2876309	NM_058163.3(TSR2):c.507A>G (p.Pro169=)	TSR2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1972430	NM_058163.3(TSR2):c.511G>A (p.Ala171Thr)	TSR2 (A171T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781093	NM_058163.3(TSR2):c.516G>C (p.Gln172His)	TSR2 (Q172H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1248039	NM_058163.3(TSR2):c.*45A>G	TSR2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 41