"PreventionGenetics, part of Exact Sciences"[submitter] AND "TP53BP2"[ - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041533	NM_001031685.3(TP53BP2):c.3318G>A (p.Ala1106=)	TP53BP2	Single nucleotide variant (synonymous variant)	TP53BP2-related disorder	GBenign
Select item 3060703	NM_001031685.3(TP53BP2):c.3027C>T (p.Asn1009=)	TP53BP2	Single nucleotide variant (synonymous variant)	TP53BP2-related disorder	GBenign
Select item 724322	NM_001031685.3(TP53BP2):c.3003A>G (p.Pro1001=)	TP53BP2	Single nucleotide variant (synonymous variant)	TP53BP2-related disorder +1 more	GBenign
Select item 3060669	NM_001031685.3(TP53BP2):c.2880C>G (p.Leu960=)	TP53BP2	Single nucleotide variant (synonymous variant)	TP53BP2-related disorder	GBenign
Select item 3041173	NM_001031685.3(TP53BP2):c.2703C>T (p.Thr901=)	TP53BP2	Single nucleotide variant (synonymous variant)	TP53BP2-related disorder	GBenign
Select item 3045574	NM_001031685.3(TP53BP2):c.2643A>C (p.Pro881=)	TP53BP2	Single nucleotide variant (synonymous variant)	TP53BP2-related disorder	GLikely benign
Select item 3045305	NM_001031685.3(TP53BP2):c.2637A>C (p.Pro879=)	TP53BP2	Single nucleotide variant (synonymous variant)	TP53BP2-related disorder	GLikely benign
Select item 3047799	NM_001031685.3(TP53BP2):c.1993C>T (p.His665Tyr)	TP53BP2 (H536Y +1 more)	Single nucleotide variant (missense variant)	TP53BP2-related disorder	GLikely benign
Select item 789156	NM_001031685.3(TP53BP2):c.1905C>T (p.Ser635=)	TP53BP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 788948	NM_001031685.3(TP53BP2):c.1902G>C (p.Gln634His)	TP53BP2 (Q634H +1 more)	Single nucleotide variant (missense variant)	TP53BP2-related disorder +1 more	GBenign
Select item 788290	NM_001031685.3(TP53BP2):c.1707C>T (p.Gly569=)	TP53BP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 769257	NM_001031685.3(TP53BP2):c.1599C>T (p.Asp533=)	TP53BP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3057760	NM_001031685.3(TP53BP2):c.1486-4A>G	TP53BP2	Single nucleotide variant (intron variant)	TP53BP2-related disorder	GLikely benign
Select item 3045810	NM_001031685.3(TP53BP2):c.1089T>G (p.Pro363=)	TP53BP2	Single nucleotide variant (synonymous variant)	TP53BP2-related disorder	GLikely benign
Select item 3060461	NM_001031685.3(TP53BP2):c.1077G>A (p.Ser359=)	TP53BP2	Single nucleotide variant (synonymous variant)	TP53BP2-related disorder	GBenign
Select item 711806	NM_001031685.3(TP53BP2):c.996+9G>A	TP53BP2	Single nucleotide variant (intron variant)	TP53BP2-related disorder +1 more	GBenign
Select item 3057025	NM_001031685.3(TP53BP2):c.685C>A (p.Gln229Lys)	TP53BP2 (Q100K +1 more)	Single nucleotide variant (missense variant)	TP53BP2-related disorder	GBenign
Select item 788949	NM_001031685.3(TP53BP2):c.566C>T (p.Ala189Val)	TP53BP2 (A60V +1 more)	Single nucleotide variant (missense variant)	TP53BP2-related disorder +1 more	GBenign
Select item 3042310	NM_001031685.3(TP53BP2):c.369C>T (p.Asn123=)	TP53BP2	Single nucleotide variant (synonymous variant +1 more)	TP53BP2-related disorder	GLikely benign
Select item 770862	NM_001031685.3(TP53BP2):c.268C>T (p.Arg90Cys)	TP53BP2 (R90C)	Single nucleotide variant (missense variant +1 more)	TP53BP2-related disorder +1 more	GBenign
Select item 3053352	NM_001031685.3(TP53BP2):c.189G>A (p.Ala63=)	TP53BP2	Single nucleotide variant (synonymous variant +1 more)	TP53BP2-related disorder	GLikely benign
Select item 3060937	NM_001031685.3(TP53BP2):c.175+9C>T	TP53BP2	Single nucleotide variant (intron variant)	TP53BP2-related disorder	GBenign

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Items: 22