Related gene-specific medical variations for Gene (Select 11180) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270847	NM_001009996.3(DALRD3):c.1609C>G (p.Leu537Val)	DALRD3, WDR6 (L537V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3270845	NM_001009996.3(DALRD3):c.1520G>A (p.Arg507Gln)	DALRD3, WDR6 (R340Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3080035	NM_001009996.3(DALRD3):c.1612C>T (p.Pro538Ser)	DALRD3, WDR6 (P538S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2497731	NM_018031.6(WDR6):c.3097C>T (p.Arg1033Cys)	WDR6 (R1007C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2380887	NM_001009996.3(DALRD3):c.1466T>G (p.Leu489Arg)	DALRD3, WDR6 (L489R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2328760	NM_001009996.3(DALRD3):c.1586A>G (p.His529Arg)	DALRD3, WDR6 (H362R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2234459	NM_001009996.3(DALRD3):c.1549C>T (p.Arg517Cys)	DALRD3, WDR6 (P508L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1342120	NM_001009996.3(DALRD3):c.1512+18T>C	DALRD3, WDR6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 599526	NM_018031.6(WDR6):c.2543G>A (p.Arg848His)	WDR6 (R848H +2 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 100868	NM_018031.6(WDR6):c.1957T>G (p.Cys653Gly)	WDR6 (C653G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance