"Ambry Genetics"[submitter] AND "HMX1"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 943587	NM_018942.3(HMX1):c.1024G>A (p.Ala342Thr)	HMX1 (A342T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2533974	NM_018942.3(HMX1):c.1021C>T (p.Arg341Trp)	HMX1 (R341W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 857801	NM_018942.3(HMX1):c.1001C>G (p.Ala334Gly)	HMX1 (A334G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1515302	NM_018942.3(HMX1):c.1000G>A (p.Ala334Thr)	HMX1 (A334T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1353671	NM_018942.3(HMX1):c.995C>A (p.Pro332Gln)	HMX1 (P332Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2328339	NM_018942.3(HMX1):c.986C>T (p.Ala329Val)	HMX1 (A329V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1090716	NM_018942.3(HMX1):c.964G>C (p.Gly322Arg)	HMX1 (G322R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 849352	NM_018942.3(HMX1):c.922C>T (p.Pro308Ser)	HMX1 (P308S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1920799	NM_018942.3(HMX1):c.874G>T (p.Ala292Ser)	HMX1 (A292S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2267195	NM_018942.3(HMX1):c.872C>T (p.Pro291Leu)	HMX1 (P291L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226708	NM_018942.3(HMX1):c.866G>C (p.Ser289Thr)	HMX1 (S289T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226707	NM_018942.3(HMX1):c.865A>C (p.Ser289Arg)	HMX1 (S289R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3284526	NM_018942.3(HMX1):c.862G>A (p.Glu288Lys)	HMX1 (E288K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3106345	NM_018942.3(HMX1):c.850G>A (p.Val284Met)	HMX1 (V284M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 846471	NM_018942.3(HMX1):c.824G>A (p.Gly275Glu)	HMX1 (G275E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1389281	NM_018942.3(HMX1):c.803C>G (p.Ala268Gly)	HMX1 (A268G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 964070	NM_018942.3(HMX1):c.793G>C (p.Glu265Gln)	HMX1 (E265Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2393477	NM_018942.3(HMX1):c.734C>T (p.Thr245Met)	HMX1 (T245M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3106344	NM_018942.3(HMX1):c.704G>A (p.Gly235Asp)	HMX1 (G235D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1498948	NM_018942.3(HMX1):c.703G>A (p.Gly235Ser)	HMX1 (G235S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2491283	NM_018942.3(HMX1):c.616A>G (p.Thr206Ala)	HMX1 (T206A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 848466	NM_018942.3(HMX1):c.587T>C (p.Val196Ala)	HMX1 (V196A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 847811	NM_018942.3(HMX1):c.578G>T (p.Arg193Leu)	HMX1 (R193L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2543889	NM_018942.3(HMX1):c.524G>T (p.Gly175Val)	HMX1 (G175V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267194	NM_018942.3(HMX1):c.523G>T (p.Gly175Cys)	HMX1 (G175C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 970698	NM_018942.3(HMX1):c.494C>G (p.Ala165Gly)	HMX1 (A165G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1100112	NM_018942.3(HMX1):c.491C>T (p.Ala164Val)	HMX1 (A164V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1412096	NM_018942.3(HMX1):c.487G>A (p.Glu163Lys)	HMX1 (E163K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3284525	NM_018942.3(HMX1):c.470C>G (p.Pro157Arg)	HMX1 (P157R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621124	NM_018942.3(HMX1):c.452G>C (p.Trp151Ser)	HMX1 (W151S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251486	NM_018942.3(HMX1):c.451T>G (p.Trp151Gly)	HMX1 (W151G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1395221	NM_018942.3(HMX1):c.399C>A (p.Ser133Arg)	HMX1 (S133R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2050316	NM_018942.3(HMX1):c.386G>T (p.Ser129Ile)	HMX1 (S129I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2382833	NM_018942.3(HMX1):c.365G>A (p.Gly122Asp)	HMX1 (G122D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 998764	NM_018942.3(HMX1):c.335G>A (p.Gly112Asp)	HMX1 (G112D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 966059	NM_018942.3(HMX1):c.262G>C (p.Gly88Arg)	HMX1 (G88R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 845623	NM_018942.3(HMX1):c.121A>T (p.Ser41Cys)	HMX1 (S41C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2469636	NM_018942.3(HMX1):c.113G>T (p.Gly38Val)	HMX1 (G38V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 960648	NM_018942.3(HMX1):c.58C>T (p.Leu20Phe)	HMX1 (L20F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2123862	NM_018942.3(HMX1):c.28C>G (p.Arg10Gly)	HMX1 (R10G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 40