Related gene-specific medical variations for Gene (Select 29062) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3190415	NM_014149.4(WDR91):c.278G>A (p.Arg93Gln)	LOC126860191, WDR91 (R93Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190412	NM_014149.4(WDR91):c.191A>G (p.Tyr64Cys)	LOC126860191, WDR91 (Y64C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3064664	NM_014149.4(WDR91):c.410C>T (p.Pro137Leu)	LOC126860191, WDR91 (P137L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3064663	NM_014149.4(WDR91):c.1000C>T (p.Gln334Ter)	WDR91 (Q334* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified	GLikely pathogenic
Select item 2519494	NM_014149.4(WDR91):c.236T>G (p.Ile79Arg)	LOC126860191, WDR91 (I79R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2512863	NM_014149.4(WDR91):c.211C>T (p.Arg71Trp)	LOC126860191, WDR91 (R71W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510302	NM_014149.4(WDR91):c.1640C>T (p.Thr547Met)	LOC126860190, WDR91 (T573M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2504879	NM_014149.4(WDR91):c.65C>T (p.Thr22Met)	LOC129999422, WDR91 (T22M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2379239	NM_014149.4(WDR91):c.305C>A (p.Thr102Lys)	LOC126860191, WDR91 (T102K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2340247	NM_014149.4(WDR91):c.295A>T (p.Thr99Ser)	LOC126860191, WDR91 (T99S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2328315	NM_014149.4(WDR91):c.1427G>A (p.Arg476His)	LOC126860190, WDR91 (R476H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283401	NM_014149.4(WDR91):c.1543G>A (p.Ala515Thr)	LOC126860190, WDR91 (A515T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273905	NM_014149.4(WDR91):c.1478A>G (p.Asp493Gly)	LOC126860190, WDR91 (D493G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 869141	NM_014149.4(WDR91):c.588_589del (p.Gln197fs)	WDR91 (Q197fs)	Deletion (frameshift variant +2 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 869140	NM_014149.4(WDR91):c.859_860del (p.Ser287fs)	WDR91 (S287fs +1 more)	Microsatellite (frameshift variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 787322	NM_014149.4(WDR91):c.372G>A (p.Glu124=)	LOC126860191, WDR91	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 783508	NM_014149.4(WDR91):c.303+7G>A	LOC126860191, WDR91	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780722	NM_014149.4(WDR91):c.1578A>G (p.Ser526=)	LOC126860190, WDR91	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 684414	NM_014149.4(WDR91):c.28G>T (p.Glu10Ter)	LOC129999422, WDR91 (E10*)	Single nucleotide variant (nonsense +2 more)	Neurodevelopmental disorder with brain malformations and multiple congenital anomalies	GPathogenic