"Ambry Genetics"[submitter] AND "RBMX2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2610596	NM_016024.4(RBMX2):c.6C>T (p.Asn2=)	RBMX2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3313338	NM_016024.4(RBMX2):c.36G>C (p.Glu12Asp)	RBMX2 (E12D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262369	NM_016024.4(RBMX2):c.93G>C (p.Glu31Asp)	RBMX2 (E31D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258014	NM_016024.4(RBMX2):c.280G>A (p.Val94Ile)	RBMX2 (V94I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313339	NM_016024.4(RBMX2):c.416G>A (p.Arg139His)	RBMX2 (R139H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152493	NM_016024.4(RBMX2):c.470A>G (p.Lys157Arg)	RBMX2 (K157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377764	NM_016024.4(RBMX2):c.529C>T (p.Arg177Trp)	RBMX2 (R177W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313340	NM_016024.4(RBMX2):c.572G>A (p.Arg191His)	RBMX2 (R191H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152494	NM_016024.4(RBMX2):c.589A>G (p.Lys197Glu)	RBMX2 (K197E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152495	NM_016024.4(RBMX2):c.604C>T (p.Pro202Ser)	RBMX2 (P202S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2400519	NM_016024.4(RBMX2):c.812G>A (p.Arg271Gln)	RBMX2 (R271Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152496	NM_016024.4(RBMX2):c.837G>C (p.Trp279Cys)	RBMX2 (W279C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152497	NM_016024.4(RBMX2):c.839A>T (p.Tyr280Phe)	RBMX2 (Y280F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313337	NM_016024.4(RBMX2):c.847C>T (p.Arg283Cys)	RBMX2 (R283C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300431	NM_016024.4(RBMX2):c.878G>A (p.Ser293Asn)	RBMX2 (S293N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152498	NM_016024.4(RBMX2):c.932G>A (p.Arg311Gln)	RBMX2 (R311Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152499	NM_016024.4(RBMX2):c.941C>T (p.Ser314Leu)	RBMX2 (S314L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470834	NM_016024.4(RBMX2):c.941C>G (p.Ser314Trp)	RBMX2 (S314W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance