ClinVar for Gene (Select 126860191) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2519494	NM_014149.4(WDR91):c.236T>G (p.Ile79Arg)	LOC126860191, WDR91 (I79R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2512863	NM_014149.4(WDR91):c.211C>T (p.Arg71Trp)	LOC126860191, WDR91 (R71W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2379239	NM_014149.4(WDR91):c.305C>A (p.Thr102Lys)	LOC126860191, WDR91 (T102K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2340247	NM_014149.4(WDR91):c.295A>T (p.Thr99Ser)	LOC126860191, WDR91 (T99S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	TMEM139-AS1, TMEM140 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC123956245, LOC123956246 +1025 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	MIR5707, MIR595 +1046 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LOC285889, LOC349160 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	LOC123956263, LOC126860190 +455 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999467, LOC129999468 +944 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic