Related gene-specific medical variations for Gene (Select 94025) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058965	NM_001401501.2(MUC16):c.7636A>G (p.Thr2546Ala)	LOC129391057, MUC16 (T2506A +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3050834	NM_001401501.2(MUC16):c.7508C>T (p.Ser2503Leu)	LOC129391057, MUC16 (S2463L +2 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3042473	NM_001401501.2(MUC16):c.7566C>T (p.Asp2522=)	LOC129391057, MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 2672742	NM_001401501.2(MUC16):c.16399G>A (p.Val5467Ile)	LOC126862848, MUC16 (V5427I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2649266	NM_001401501.2(MUC16):c.7534G>A (p.Val2512Ile)	LOC129391057, MUC16 (V2472I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2497739	NM_001401501.2(MUC16):c.1217C>A (p.Thr406Asn)	MUC16 (T366N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 784828	NM_001401501.2(MUC16):c.16693T>C (p.Ser5565Pro)	LOC126862848, MUC16 (S5525P +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781399	NM_001401501.2(MUC16):c.16846T>G (p.Ser5616Ala)	LOC126862848, MUC16 (S5576A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign

ClinVar