Related gene-specific medical variations for Gene (Select 107985471) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2599646	NM_001856.4(COL16A1):c.4000C>T (p.Pro1334Ser)	COL16A1, PEF1-AS1 (P1334S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464182	NM_001856.4(COL16A1):c.4421G>T (p.Arg1474Leu)	COL16A1, PEF1-AS1 (R1474L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376839	NM_001856.4(COL16A1):c.3905C>T (p.Pro1302Leu)	COL16A1, PEF1-AS1 (P1302L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276562	NM_001856.4(COL16A1):c.4567A>G (p.Ile1523Val)	COL16A1, PEF1-AS1 (I1523V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236733	NM_001856.4(COL16A1):c.4179G>C (p.Lys1393Asn)	COL16A1, PEF1-AS1 (K1393N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215547	NM_001856.4(COL16A1):c.4096C>A (p.Pro1366Thr)	COL16A1, PEF1-AS1 (P1366T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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