Related gene-specific medical variations for Gene (Select 51585) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3210167	NM_001346413.3(PCF11):c.1711A>T (p.Asn571Tyr)	LOC126861280, PCF11 (N571Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210166	NM_001346413.3(PCF11):c.1699C>G (p.Gln567Glu)	LOC126861280, PCF11 (Q567E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210165	NM_001346413.3(PCF11):c.1694G>A (p.Arg565Gln)	LOC126861280, PCF11 (R565Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210164	NM_001346413.3(PCF11):c.1631C>T (p.Ala544Val)	LOC126861280, PCF11 (A544V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553041	NM_001346413.3(PCF11):c.5033C>T (p.Thr1678Ile)	ANKRD42-DT, PCF11 (T1546I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538490	NM_001346413.3(PCF11):c.4993T>C (p.Cys1665Arg)	ANKRD42-DT, PCF11 (C1534R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2390959	NM_001346413.3(PCF11):c.4849T>C (p.Ser1617Pro)	ANKRD42-DT, PCF11 (S1486P +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2372824	NM_001346413.3(PCF11):c.5050G>A (p.Glu1684Lys)	ANKRD42-DT, PCF11 (E1684K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345028	NM_001346413.3(PCF11):c.1657C>T (p.Arg553Trp)	LOC126861280, PCF11 (R553W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259075	NM_001346413.3(PCF11):c.1609C>T (p.Pro537Ser)	LOC126861280, PCF11 (P537S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance