ClinVar for Gene (Select 80324) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311739	NM_025215.6(PUS1):c.1099G>C (p.Ala367Pro)	PUS1 (A367P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251464	NM_025215.6(PUS1):c.802T>C (p.Cys268Arg)	PUS1 (C240R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244436	NC_000012.11:g.(?_132414268)_(133263901_?)del	DDX51, EP400 +7 more	Deletion	not provided	GPathogenic
Select item 3149831	NM_025215.6(PUS1):c.499C>G (p.Leu167Val)	PUS1 (L139V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149830	NM_025215.6(PUS1):c.352T>C (p.Ser118Pro)	LOC132090059, PUS1 (S118P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149829	NM_025215.6(PUS1):c.235G>A (p.Glu79Lys)	PUS1 (E51K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149828	NM_025215.6(PUS1):c.22C>G (p.Leu8Val)	PUS1 (L8V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3149827	NM_025215.6(PUS1):c.1237G>A (p.Val413Met)	PUS1 (V385M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065505	NM_025215.6(PUS1):c.462_463dup (p.Val155fs)	PUS1 (V127fs +1 more)	Duplication (frameshift variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GLikely pathogenic
Select item 3032548	NM_025215.6(PUS1):c.2T>G (p.Met1Arg)	PUS1 (M1R)	Single nucleotide variant (missense variant +2 more)	PUS1-related disorder	GUncertain significance
Select item 3031648	NM_025215.6(PUS1):c.1156dup (p.Ser386fs)	PUS1 (S358fs +1 more)	Duplication (frameshift variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 3023879	NM_025215.6(PUS1):c.1237-8T>C	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020472	NM_025215.6(PUS1):c.544+18G>A	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017714	NM_025215.6(PUS1):c.304-13C>T	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017559	NM_025215.6(PUS1):c.30A>C (p.Gly10=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3015824	NM_025215.6(PUS1):c.1128C>A (p.Thr376=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015704	NM_025215.6(PUS1):c.545-9C>T	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012378	NM_025215.6(PUS1):c.48C>A (p.Thr16=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3009704	NM_025215.6(PUS1):c.75-14G>T	LOC130009240, PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009468	NM_025215.6(PUS1):c.354C>A (p.Ser118=)	LOC132090059, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006558	NM_025215.6(PUS1):c.74+19G>A	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004831	NM_025215.6(PUS1):c.78G>T (p.Ser26=)	LOC130009240, PUS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3004536	NM_025215.6(PUS1):c.63G>A (p.Pro21=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004429	NM_025215.6(PUS1):c.786C>T (p.Tyr262=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003297	NM_025215.6(PUS1):c.606C>T (p.Cys202=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997581	NM_025215.6(PUS1):c.442-15C>G	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995205	NM_025215.6(PUS1):c.858C>T (p.Gly286=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988536	NM_025215.6(PUS1):c.678C>T (p.Ala226=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981609	NM_025215.6(PUS1):c.883C>A (p.Arg295=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980721	NM_025215.6(PUS1):c.120C>T (p.Ala40=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979832	NM_025215.6(PUS1):c.501A>G (p.Leu167=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978777	NM_025215.6(PUS1):c.111C>G (p.Pro37=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973665	NM_025215.6(PUS1):c.1237-15G>T	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971895	NM_025215.6(PUS1):c.441+13C>T	LOC132090059, PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971668	NM_025215.6(PUS1):c.831G>A (p.Leu277=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967937	NM_025215.6(PUS1):c.6C>A (p.Gly2=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967769	NM_025215.6(PUS1):c.1236+18G>A	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963284	NM_025215.6(PUS1):c.6C>T (p.Gly2=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2920565	NM_025215.6(PUS1):c.1215G>A (p.Thr405=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919660	NM_025215.6(PUS1):c.303+14G>A	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918784	NM_025215.6(PUS1):c.1122C>T (p.Tyr374=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917893	NM_025215.6(PUS1):c.1251G>A (p.Leu417=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915681	NM_025215.6(PUS1):c.303+13G>A	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908619	NM_025215.6(PUS1):c.84C>G (p.Arg28=)	PUS1, LOC130009240	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2905466	NM_025215.6(PUS1):c.75-14G>A	LOC130009240, PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901051	NM_025215.6(PUS1):c.882C>T (p.Ile294=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890276	NM_025215.6(PUS1):c.442-18G>A	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2883776	NM_025215.6(PUS1):c.74+14C>T	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881468	NM_025215.6(PUS1):c.807G>A (p.Glu269=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880122	NM_025215.6(PUS1):c.846C>T (p.Ile282=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879625	NM_025215.6(PUS1):c.636C>T (p.His212=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879423	NM_025215.6(PUS1):c.564C>G (p.Gly188=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874445	NM_025215.6(PUS1):c.324A>G (p.Gln108=)	LOC132090059, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865527	NM_025215.6(PUS1):c.545-10T>C	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864844	NM_025215.6(PUS1):c.367del (p.Ser123fs)	LOC132090059, PUS1 (S123fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2863749	NM_025215.6(PUS1):c.346T>C (p.Leu116=)	LOC132090059, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861132	NM_025215.6(PUS1):c.472C>T (p.Leu158=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860621	NM_025215.6(PUS1):c.813C>T (p.Pro271=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858042	NM_025215.6(PUS1):c.112_128del (p.Ala38fs)	LOC130009240, PUS1 (A10fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2857861	NM_025215.6(PUS1):c.282C>G (p.Gly94=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854983	NM_025215.6(PUS1):c.717C>G (p.Tyr239Ter)	PUS1 (Y211* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2848547	NM_025215.6(PUS1):c.975G>A (p.Val325=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846958	NM_025215.6(PUS1):c.74+20G>C	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846822	NM_025215.6(PUS1):c.442-14T>G	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846643	NM_025215.6(PUS1):c.229C>A (p.Arg77=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845051	NM_025215.6(PUS1):c.1236+16C>T	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841070	NM_025215.6(PUS1):c.304-15G>C	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839150	NM_025215.6(PUS1):c.555G>A (p.Arg185=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834763	NM_025215.6(PUS1):c.795G>A (p.Glu265=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828152	NM_025215.6(PUS1):c.1017C>T (p.His339=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822208	NM_025215.6(PUS1):c.519C>T (p.His173=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820597	NM_025215.6(PUS1):c.544+19G>A	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819926	NM_025215.6(PUS1):c.12G>A (p.Gln4=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2817641	NM_025215.6(PUS1):c.246C>G (p.Pro82=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817103	NM_025215.6(PUS1):c.510del (p.Asn171fs)	PUS1 (N143fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2814495	NM_025215.6(PUS1):c.558C>T (p.Val186=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813172	NM_025215.6(PUS1):c.711C>G (p.Ala237=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811214	NM_025215.6(PUS1):c.75-4G>T	LOC130009240, PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810732	NM_025215.6(PUS1):c.505_506del (p.Lys169fs)	PUS1 (K169fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2808628	NM_025215.6(PUS1):c.189A>G (p.Glu63=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807204	NM_025215.6(PUS1):c.903G>A (p.Val301=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806951	NM_025215.6(PUS1):c.441+19T>C	LOC132090059, PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804700	NM_025215.6(PUS1):c.123A>G (p.Ala41=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802371	NM_025215.6(PUS1):c.552G>A (p.Lys184=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800695	NM_025215.6(PUS1):c.303+20G>C	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798437	NM_025215.6(PUS1):c.303+1G>T	PUS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2798068	NM_025215.6(PUS1):c.90C>T (p.Ala30=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797131	NM_025215.6(PUS1):c.58G>T (p.Gly20Ter)	PUS1 (G20*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2791720	NM_025215.6(PUS1):c.984G>C (p.Ala328=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791591	NM_025215.6(PUS1):c.393T>C (p.Gly131=)	LOC132090059, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791223	NM_025215.6(PUS1):c.442-12C>T	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788808	NM_025215.6(PUS1):c.930del (p.Glu311fs)	PUS1 (E283fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2788644	NM_025215.6(PUS1):c.468A>G (p.Val156=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784476	NM_025215.6(PUS1):c.603T>C (p.Tyr201=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779147	NM_025215.6(PUS1):c.1014G>A (p.Val338=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778222	NM_025215.6(PUS1):c.144C>T (p.Ser48=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778107	NM_025215.6(PUS1):c.372C>T (p.Gly124=)	LOC132090059, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776598	NM_025215.6(PUS1):c.447G>T (p.Val149=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2775820	NM_025215.6(PUS1):c.780C>T (p.Cys260=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2773300	NM_025215.6(PUS1):c.544+17A>G	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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