"Ambry Genetics"[submitter] AND "NCOA7"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2250316	NM_181782.5(NCOA7):c.4G>A (p.Asp2Asn)	NCOA7, NCOA7-AS1 (D2N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600520	NM_181782.5(NCOA7):c.32A>G (p.Lys11Arg)	NCOA7, NCOA7-AS1 (K11R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559591	NM_181782.5(NCOA7):c.293A>C (p.His98Pro)	NCOA7 (H98P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399973	NM_181782.5(NCOA7):c.313A>G (p.Met105Val)	NCOA7 (M105V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330735	NM_181782.5(NCOA7):c.332A>G (p.His111Arg)	NCOA7 (H7R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284003	NM_181782.5(NCOA7):c.595G>T (p.Ala199Ser)	NCOA7 (A199S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209395	NM_181782.5(NCOA7):c.987C>A (p.Asn329Lys)	NCOA7 (N214K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247813	NM_181782.5(NCOA7):c.1181C>T (p.Pro394Leu)	NCOA7 (P279L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480592	NM_181782.5(NCOA7):c.1190C>A (p.Thr397Asn)	NCOA7 (T397N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329633	NM_181782.5(NCOA7):c.1234G>A (p.Glu412Lys)	NCOA7 (E401K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341386	NM_181782.5(NCOA7):c.1505C>T (p.Ser502Leu)	NCOA7 (S387L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407939	NM_181782.5(NCOA7):c.1541A>G (p.His514Arg)	NCOA7 (H503R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619671	NM_181782.5(NCOA7):c.1546G>A (p.Asp516Asn)	NCOA7 (D516N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495938	NM_181782.5(NCOA7):c.1613A>C (p.Glu538Ala)	NCOA7 (E527A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611880	NM_181782.5(NCOA7):c.1625A>T (p.Lys542Ile)	NCOA7 (K427I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533162	NM_181782.5(NCOA7):c.1700C>G (p.Ala567Gly)	NCOA7 (A452G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371024	NM_181782.5(NCOA7):c.1700C>T (p.Ala567Val)	NCOA7 (A567V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348564	NM_181782.5(NCOA7):c.1736A>G (p.Asp579Gly)	NCOA7 (D464G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612968	NM_181782.5(NCOA7):c.1740G>C (p.Lys580Asn)	NCOA7 (K580N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590384	NM_181782.5(NCOA7):c.1769C>T (p.Pro590Leu)	NCOA7 (P590L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209223	NM_181782.5(NCOA7):c.1845C>G (p.Asp615Glu)	NCOA7 (D500E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357238	NM_181782.5(NCOA7):c.2047G>A (p.Gly683Ser)	NCOA7 (G683S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371635	NM_181782.5(NCOA7):c.2089C>T (p.Arg697Trp)	NCOA7 (R582W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323888	NM_181782.5(NCOA7):c.2092G>C (p.Glu698Gln)	NCOA7 (E583Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601785	NM_181782.5(NCOA7):c.2254G>A (p.Val752Ile)	NCOA7 (V637I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464510	NM_181782.5(NCOA7):c.2323G>A (p.Val775Ile)	NCOA7 (V52I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2513643	NM_181782.5(NCOA7):c.2375C>G (p.Ala792Gly)	NCOA7 (A677G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515038	NM_181782.5(NCOA7):c.2393G>C (p.Arg798Thr)	NCOA7 (R75T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356206	NM_181782.5(NCOA7):c.2464C>T (p.Arg822Trp)	NCOA7 (R99W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401826	NM_181782.5(NCOA7):c.2702T>C (p.Phe901Ser)	NCOA7 (F786S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257861	NM_181782.5(NCOA7):c.2767G>A (p.Asp923Asn)	NCOA7 (D808N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 31