"PreventionGenetics, part of Exact Sciences"[submitter] AND "RUBCN"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3044830	NM_014687.4(RUBCN):c.2862C>T (p.Tyr954=)	RUBCN	Single nucleotide variant (synonymous variant)	RUBCN-related disorder	GLikely benign
Select item 3042841	NM_014687.4(RUBCN):c.2623G>A (p.Ala875Thr)	RUBCN (A830T +2 more)	Single nucleotide variant (missense variant)	RUBCN-related disorder	GLikely benign
Select item 738463	NM_014687.4(RUBCN):c.2583G>A (p.Gly861=)	RUBCN	Single nucleotide variant (synonymous variant)	RUBCN-related disorder +1 more	GLikely benign
Select item 3035662	NM_014687.4(RUBCN):c.1786+2562C>A	RUBCN	Single nucleotide variant (intron variant)	RUBCN-related disorder	GLikely benign
Select item 3043880	NM_014687.4(RUBCN):c.1685-5A>G	RUBCN	Single nucleotide variant (intron variant)	RUBCN-related disorder	GLikely benign
Select item 3058488	NM_014687.4(RUBCN):c.1530G>A (p.Lys510=)	RUBCN	Single nucleotide variant (synonymous variant)	RUBCN-related disorder	GLikely benign
Select item 3048286	NM_014687.4(RUBCN):c.1294C>G (p.Pro432Ala)	RUBCN (P387A +2 more)	Single nucleotide variant (missense variant)	RUBCN-related disorder	GBenign
Select item 708779	NM_014687.4(RUBCN):c.843T>A (p.Ser281=)	RUBCN	Single nucleotide variant (synonymous variant)	RUBCN-related disorder +1 more	GBenign/Likely benign
Select item 3033546	NM_014687.4(RUBCN):c.828C>G (p.Pro276=)	RUBCN	Single nucleotide variant (synonymous variant)	RUBCN-related disorder	GLikely benign
Select item 727671	NM_014687.4(RUBCN):c.822A>G (p.Gln274=)	RUBCN	Single nucleotide variant (synonymous variant)	RUBCN-related disorder +1 more	GLikely benign
Select item 738420	NM_014687.4(RUBCN):c.594G>A (p.Pro198=)	RUBCN	Single nucleotide variant (synonymous variant)	RUBCN-related disorder +1 more	GLikely benign