Related gene-specific medical variations for Gene (Select 55626) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3114781	NM_001387011.1(AMBRA1):c.1844A>C (p.Gln615Pro)	AMBRA1, LOC124433255 (Q525P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494699	NM_001387011.1(AMBRA1):c.1816T>G (p.Phe606Val)	AMBRA1, LOC124433255 (F337V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477165	NM_001387011.1(AMBRA1):c.1823G>C (p.Ser608Thr)	AMBRA1, LOC124433255 (S339T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282062	NM_001387011.1(AMBRA1):c.1838G>A (p.Gly613Asp)	AMBRA1, LOC124433255 (G344D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249602	NM_001387011.1(AMBRA1):c.2050T>A (p.Ser684Thr)	AMBRA1, LOC124433255 (S594T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226306	NM_001387011.1(AMBRA1):c.2051C>T (p.Ser684Phe)	AMBRA1, LOC124433255 (S415F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225802	NM_001387011.1(AMBRA1):c.1919C>T (p.Pro640Leu)	AMBRA1, LOC124433255 (P371L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 691340	NM_001387011.1(AMBRA1):c.431C>T (p.Ala144Val)	AMBRA1 (A144V)	Single nucleotide variant (missense variant +2 more)	Esophageal atresia +1 more	GUncertain significance