"Ambry Genetics"[submitter] AND "CITED1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2352051	NM_001144887.2(CITED1):c.557C>T (p.Thr186Ile)	CITED1 (T212I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267453	NM_001144887.2(CITED1):c.439A>G (p.Ile147Val)	CITED1 (I147V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145167	NM_001144887.2(CITED1):c.359C>T (p.Pro120Leu)	CITED1 (P120L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145166	NM_001144887.2(CITED1):c.355G>C (p.Gly119Arg)	CITED1 (G145R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267454	NM_001144887.2(CITED1):c.352G>A (p.Ala118Thr)	CITED1 (A118T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532444	NM_001144887.2(CITED1):c.346G>A (p.Gly116Arg)	CITED1 (G116R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283133	NM_001144887.2(CITED1):c.262G>A (p.Ala88Thr)	CITED1 (A114T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2254813	NM_001144887.2(CITED1):c.176G>A (p.Gly59Glu)	CITED1 (G59E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145164	NM_001144887.2(CITED1):c.158A>G (p.Asn53Ser)	CITED1 (N79S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314052	NM_001144887.2(CITED1):c.157A>T (p.Asn53Tyr)	CITED1 (N79Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555108	NM_001144887.2(CITED1):c.134T>C (p.Leu45Pro)	CITED1 (L71P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472364	NM_001144887.2(CITED1):c.49C>T (p.Pro17Ser)	CITED1 (P43S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396768	NM_001144887.2(CITED1):c.32T>G (p.Val11Gly)	CITED1 (V11G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145168	NM_001144887.2(CITED1):c.-33G>A	CITED1 (A16T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign