Related gene-specific medical variations for Gene (Select 9587) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3121969	NM_014628.3(MAD2L1BP):c.817C>T (p.Arg273Cys)	MAD2L1BP, POLR1C (R273C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121968	NM_014628.3(MAD2L1BP):c.800T>C (p.Val267Ala)	MAD2L1BP, POLR1C (V267A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121967	NM_014628.3(MAD2L1BP):c.709C>T (p.Arg237Trp)	MAD2L1BP, POLR1C (R269W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518234	NM_014628.3(MAD2L1BP):c.731C>T (p.Thr244Ile)	MAD2L1BP, POLR1C (T276I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395161	NM_014628.3(MAD2L1BP):c.613G>T (p.Ala205Ser)	MAD2L1BP, POLR1C (A205S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391000	NM_014628.3(MAD2L1BP):c.124C>A (p.Pro42Thr)	MAD2L1BP, POLR1C (P74T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383294	NM_014628.3(MAD2L1BP):c.340C>T (p.Arg114Trp)	MAD2L1BP, POLR1C (R146W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345805	NM_014628.3(MAD2L1BP):c.443C>T (p.Pro148Leu)	MAD2L1BP, POLR1C (P180L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264133	NM_014628.3(MAD2L1BP):c.818G>A (p.Arg273His)	MAD2L1BP, POLR1C (R273H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2262934	NM_014628.3(MAD2L1BP):c.182C>T (p.Pro61Leu)	MAD2L1BP, POLR1C (P61L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254355	NM_014628.3(MAD2L1BP):c.545G>A (p.Ser182Asn)	MAD2L1BP, POLR1C (S214N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238573	NM_014628.3(MAD2L1BP):c.293A>G (p.Tyr98Cys)	MAD2L1BP, POLR1C (Y130C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713859	NM_014628.3(MAD2L1BP):c.590C>T (p.Ala197Val)	POLR1C, MAD2L1BP (A197V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign