MAK16[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 757099	NM_032509.4(MAK16):c.9G>C (p.Ser3=)	MAK16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2236114	NM_032509.4(MAK16):c.164A>C (p.Lys55Thr)	MAK16 (K55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589070	NM_032509.4(MAK16):c.223C>G (p.Arg75Gly)	MAK16 (R75G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388268	NM_032509.4(MAK16):c.427C>T (p.Arg143Cys)	MAK16 (R143C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292730	NM_032509.4(MAK16):c.428G>A (p.Arg143His)	MAK16 (R143H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292731	NM_032509.4(MAK16):c.590G>A (p.Ser197Asn)	MAK16 (S197N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658530	NM_032509.4(MAK16):c.627T>C (p.Asp209=)	MAK16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3292732	NM_032509.4(MAK16):c.684G>C (p.Glu228Asp)	MAK16 (E228D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274574	NM_032509.4(MAK16):c.701T>C (p.Phe234Ser)	MAK16 (F234S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122304	NM_032509.4(MAK16):c.743A>G (p.Gln248Arg)	MAK16 (Q248R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122305	NM_032509.4(MAK16):c.758C>T (p.Ser253Phe)	MAK16 (S253F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122307	NM_032509.4(MAK16):c.865C>A (p.Gln289Lys)	MAK16 (Q289K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264073	NM_032509.4(MAK16):c.889G>A (p.Ala297Thr)	MAK16 (A297T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance