"Ambry Genetics"[submitter] AND "SH3BP5L"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2611037	NM_030645.3(SH3BP5L):c.1141G>A (p.Gly381Arg)	SH3BP5L (G262R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617452	NM_030645.3(SH3BP5L):c.1123C>A (p.Arg375Ser)	SH3BP5L (R208S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336850	NM_030645.3(SH3BP5L):c.1021G>A (p.Val341Met)	SH3BP5L (V222M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354876	NM_030645.3(SH3BP5L):c.928G>A (p.Gly310Arg)	SH3BP5L (G191R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367774	NM_030645.3(SH3BP5L):c.854G>A (p.Gly285Asp)	SH3BP5L (G285D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545274	NM_030645.3(SH3BP5L):c.820C>G (p.Arg274Gly)	SH3BP5L (R274G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556983	NM_030645.3(SH3BP5L):c.746A>G (p.Gln249Arg)	SH3BP5L (Q82R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294889	NM_030645.3(SH3BP5L):c.595C>T (p.Arg199Trp)	SH3BP5L (R199W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462618	NM_030645.3(SH3BP5L):c.560G>A (p.Arg187Gln)	SH3BP5L (R20Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609367	NM_030645.3(SH3BP5L):c.472G>A (p.Val158Ile)	SH3BP5L (V158I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623281	NM_030645.3(SH3BP5L):c.427A>C (p.Met143Leu)	SH3BP5L (M24L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274324	NM_030645.3(SH3BP5L):c.415C>T (p.Arg139Trp)	SH3BP5L (R139W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476770	NM_030645.3(SH3BP5L):c.149C>T (p.Pro50Leu)	SH3BP5L (P50L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260148	NM_030645.3(SH3BP5L):c.122G>A (p.Ser41Asn)	SH3BP5L (S41N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389589	NM_030645.3(SH3BP5L):c.105G>T (p.Glu35Asp)	SH3BP5L (E35D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance