Related gene-specific medical variations for Gene (Select 23764) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3122036	NM_012323.4(MAFF):c.379C>T (p.Pro127Ser)	LOC130067408, MAFF (P127S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122035	NM_012323.4(MAFF):c.362T>C (p.Val121Ala)	LOC130067408, MAFF (V121A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555011	NM_012323.4(MAFF):c.424T>C (p.Ser142Pro)	LOC130067408, MAFF (S113P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534264	NM_012323.4(MAFF):c.385A>G (p.Thr129Ala)	LOC130067408, MAFF (T100A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2523329	NM_012323.4(MAFF):c.456C>G (p.His152Gln)	LOC130067408, MAFF (H123Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343874	NM_012323.4(MAFF):c.370G>A (p.Ala124Thr)	LOC130067408, MAFF (A124T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307313	NM_012323.4(MAFF):c.356G>T (p.Arg119Leu)	LOC130067408, MAFF (R119L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255708	NM_012323.4(MAFF):c.460C>T (p.Pro154Ser)	LOC130067408, MAFF (P154S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 395000	GRCh37/hg19 22q13.1(chr22:38597951-38611206)x3	MAFF	Copy number gain	See cases	GLikely benign