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

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3210768	NM_198204.2(MLX):c.22C>A (p.Pro8Thr)	LOC130060910, MLX (P8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210707	NM_198204.2(MLX):c.42+85C>T	LOC130060910, MLX (L43F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204385	NM_198204.2(MLX):c.42+91T>C	MLX, LOC130060910 (S45P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295214	NM_198204.2(MLX):c.42+118C>T	LOC130060910, MLX (P54S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523772	NM_198204.2(MLX):c.83T>A (p.Leu28His)	MLX (L28H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474226	NM_198204.2(MLX):c.92A>G (p.Glu31Gly)	MLX (E31G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210836	NM_198204.2(MLX):c.98C>T (p.Thr33Ile)	MLX (T33I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523646	NM_198204.2(MLX):c.100C>T (p.Arg34Cys)	MLX (R34C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307676	NM_198204.2(MLX):c.104A>G (p.Lys35Arg)	MLX (K35R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395852	NM_198204.2(MLX):c.136G>A (p.Gly46Ser)	MLX (G46S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608350	NM_198204.2(MLX):c.140C>T (p.Ser47Phe)	MLX (S47F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210974	NM_198204.2(MLX):c.465G>C (p.Lys155Asn)	MLX (K125N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377876	NM_198204.2(MLX):c.522A>C (p.Glu174Asp)	MLX (E144D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295215	NM_198204.2(MLX):c.599A>G (p.Asn200Ser)	MLX (N170S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211029	NM_198204.2(MLX):c.695T>C (p.Val232Ala)	MLX (V286A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602649	NM_198204.2(MLX):c.698T>G (p.Ile233Ser)	MLX (I287S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606627	NM_016556.4(PSMC3IP):c.634G>T (p.Val212Phe)	MLX, PSMC3IP (V212F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3220408	NM_016556.4(PSMC3IP):c.617C>T (p.Thr206Met)	MLX, PSMC3IP (T143M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance