"Ambry Genetics"[submitter] AND "MDM1"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2521026	NM_001354969.2(MDM1):c.2114G>A (p.Arg705Gln)	MDM1 (R660Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357695	NM_001354969.2(MDM1):c.2113C>T (p.Arg705Trp)	MDM1 (R655W +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224050	NM_001354969.2(MDM1):c.2093G>A (p.Arg698His)	MDM1 (R418H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392984	NM_001354969.2(MDM1):c.1999A>G (p.Asn667Asp)	MDM1 (N377D +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597771	NM_001354969.2(MDM1):c.1904C>A (p.Pro635His)	MDM1 (P585H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289615	NM_001354969.2(MDM1):c.1900A>C (p.Asn634His)	MDM1 (N344H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619666	NM_001354969.2(MDM1):c.1897A>G (p.Thr633Ala)	MDM1 (T343A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260001	NM_001354969.2(MDM1):c.1850A>C (p.Lys617Thr)	MDM1 (K327T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543748	NM_001354969.2(MDM1):c.1759C>T (p.Arg587Cys)	MDM1 (R537C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337071	NM_001354969.2(MDM1):c.1713G>C (p.Gln571His)	MDM1 (Q521H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245964	NM_001354969.2(MDM1):c.1495C>T (p.Arg499Cys)	MDM1 (R454C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366473	NM_001354969.2(MDM1):c.1453G>A (p.Gly485Ser)	MDM1 (G205S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552526	NM_001354969.2(MDM1):c.1423G>A (p.Asp475Asn)	MDM1 (D465N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551117	NM_001354969.2(MDM1):c.1355T>G (p.Leu452Arg)	MDM1 (L172R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464497	NM_001354969.2(MDM1):c.1307C>T (p.Thr436Met)	MDM1 (T146M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2406374	NM_001354969.2(MDM1):c.1306A>G (p.Thr436Ala)	MDM1 (T386A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609871	NM_001354969.2(MDM1):c.1163G>T (p.Ser388Ile)	MDM1 (S343I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272671	NM_001354969.2(MDM1):c.1055A>C (p.Lys352Thr)	MDM1 (K302T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481203	NM_001354969.2(MDM1):c.855C>A (p.Asp285Glu)	MDM1 (D5E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214467	NM_001354969.2(MDM1):c.820C>G (p.Arg274Gly)	MDM1 (R224G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380450	NM_001354969.2(MDM1):c.608C>A (p.Thr203Asn)	MDM1 (T203N)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2477196	NM_001354969.2(MDM1):c.548A>G (p.Tyr183Cys)	MDM1 (Y183C)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2609872	NM_001354969.2(MDM1):c.515G>C (p.Arg172Pro)	MDM1 (R172P)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2477520	NM_001354969.2(MDM1):c.301G>A (p.Asp101Asn)	MDM1 (D96N +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2256338	NM_001354969.2(MDM1):c.292G>A (p.Glu98Lys)	MDM1 (E93K +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2473552	NM_001354969.2(MDM1):c.266C>G (p.Pro89Arg)	MDM1 (P84R +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2366575	NM_001354969.2(MDM1):c.256C>T (p.Pro86Ser)	MDM1 (P81S +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2382254	NM_001354969.2(MDM1):c.236A>G (p.Asn79Ser)	MDM1 (N79S +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2371901	NM_001354969.2(MDM1):c.16A>G (p.Lys6Glu)	MDM1 (K6E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 29