ClinVar for MedGen (Select 482919) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065032	NM_006929.5(SKIC2):c.1598C>T (p.Ala533Val)	SKIC2 (A533V)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 3065031	NM_006929.5(SKIC2):c.1114G>A (p.Asp372Asn)	LOC126859653, SKIC2 (D372N)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 2626980	NM_006929.5(SKIC2):c.2203-1G>A	SKIC2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1805097	NM_006929.5(SKIC2):c.510_511insAGCTGAACACACGG (p.Glu171delinsSerTer)	SKIC2	Insertion (nonsense)	Trichohepatoenteric syndrome 2	GPathogenic
Select item 1708562	NM_006929.5(SKIC2):c.1891G>A (p.Gly631Ser)	SKIC2	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2	GPathogenic
Select item 1424426	NM_006929.5(SKIC2):c.2483G>A (p.Arg828His)	SKIC2 (R828H)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1414402	NM_006929.5(SKIC2):c.3622C>T (p.Arg1208Cys)	SKIC2 (R1208C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1323597	NM_006929.5(SKIC2):c.1452del (p.Val485fs)	SKIC2 (V485fs)	Deletion (frameshift variant)	Trichohepatoenteric syndrome 2 +1 more	GPathogenic
Select item 1323596	NM_006929.5(SKIC2):c.3187C>T (p.Arg1063Ter)	SKIC2 (R1063*)	Single nucleotide variant (nonsense)	Trichohepatoenteric syndrome 2 +2 more	GPathogenic
Select item 1301692	NM_006929.5(SKIC2):c.2341-1G>T	SKIC2	Single nucleotide variant (splice acceptor variant)	Trichohepatoenteric syndrome 2	GPathogenic
Select item 1228348	NM_006929.5(SKIC2):c.1972-42T>C	SKIC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1165036	NM_006929.5(SKIC2):c.545-19T>C	SKIC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1064068	NM_006929.5(SKIC2):c.1816C>T (p.Arg606Cys)	SKIC2 (R606C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1033166	NM_006929.5(SKIC2):c.235C>T (p.Arg79Ter)	SKIC2 (R79*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1000909	NM_006929.5(SKIC2):c.3252G>A (p.Met1084Ile)	SKIC2 (M1084I)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 929471	NM_006929.5(SKIC2):c.1647+1G>A	SKIC2	Single nucleotide variant (splice donor variant)	Trichohepatoenteric syndrome 2	GLikely pathogenic
Select item 929470	NM_006929.5(SKIC2):c.1404-2A>G	SKIC2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 907414	NM_006929.5(SKIC2):c.3159T>C (p.Pro1053=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 907413	NM_006929.5(SKIC2):c.3077A>G (p.Lys1026Arg)	SKIC2 (K1026R)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2 +1 more	GUncertain significance
Select item 907353	NM_006929.5(SKIC2):c.1651C>T (p.Arg551Cys)	SKIC2 (R551C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 907352	NM_006929.5(SKIC2):c.1637G>A (p.Gly546Asp)	SKIC2 (G546D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 907351	NM_006929.5(SKIC2):c.1566G>A (p.Val522=)	SKIC2	Single nucleotide variant (synonymous variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 907350	NM_006929.5(SKIC2):c.1404-15C>G	SKIC2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 907349	NM_006929.5(SKIC2):c.1376A>G (p.Asn459Ser)	SKIC2 (N459S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 907290	NM_006929.5(SKIC2):c.380C>T (p.Ser127Leu)	SKIC2 (S127L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 907289	NM_006929.5(SKIC2):c.354+15G>T	SKIC2	Single nucleotide variant (intron variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 907288	NM_006929.5(SKIC2):c.23-14A>T	SKIC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 906411	NM_006929.5(SKIC2):c.2731+14A>C	SKIC2	Single nucleotide variant (intron variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 906410	NM_006929.5(SKIC2):c.2704G>A (p.Val902Met)	SKIC2 (V902M)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2 +1 more	GUncertain significance
Select item 906409	NM_006929.5(SKIC2):c.2574G>A (p.Val858=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 906408	NM_006929.5(SKIC2):c.2566T>C (p.Leu856=)	SKIC2	Single nucleotide variant (synonymous variant)	Trichohepatoenteric syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 906348	NM_006929.5(SKIC2):c.1341C>T (p.His447=)	SKIC2	Single nucleotide variant (synonymous variant)	Trichohepatoenteric syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 906347	NM_006929.5(SKIC2):c.1243C>T (p.Arg415Trp)	LOC126859653, SKIC2 (R415W)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 906346	NM_006929.5(SKIC2):c.1177G>A (p.Ala393Thr)	LOC126859653, SKIC2 (A393T)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 906345	NM_006929.5(SKIC2):c.1145T>A (p.Leu382Gln)	LOC126859653, SKIC2 (L382Q)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 906344	NM_006929.5(SKIC2):c.1132G>A (p.Gly378Arg)	LOC126859653, SKIC2 (G378R)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2 +1 more	GUncertain significance
Select item 905892	NM_006929.5(SKIC2):c.2479-7T>C	SKIC2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 905891	NM_006929.5(SKIC2):c.2464C>G (p.Gln822Glu)	SKIC2 (Q822E)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 905890	NM_006929.5(SKIC2):c.2442G>C (p.Trp814Cys)	SKIC2 (W814C)	Single nucleotide variant (missense variant)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 905833	NM_006929.5(SKIC2):c.1020T>C (p.Val340=)	LOC126859653, SKIC2	Single nucleotide variant (synonymous variant)	Trichohepatoenteric syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 905832	NM_006929.5(SKIC2):c.990C>T (p.Val330=)	LOC126859653, SKIC2	Single nucleotide variant (synonymous variant)	Trichohepatoenteric syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 904019	NM_006929.5(SKIC2):c.2052C>G (p.His684Gln)	SKIC2 (H684Q)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 904018	NM_006929.5(SKIC2):c.1965G>C (p.Leu655=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 904017	NM_006929.5(SKIC2):c.1927C>T (p.Leu643Phe)	SKIC2 (L643F)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 903950	NM_006929.5(SKIC2):c.382G>A (p.Ala128Thr)	SKIC2 (A128T)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 869410	NM_006929.5(SKIC2):c.2662_2663del (p.Arg888fs)	SKIC2 (R888fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 869409	NM_006929.5(SKIC2):c.904C>T (p.Gln302Ter)	SKIC2 (Q302*)	Single nucleotide variant (nonsense)	Trichohepatoenteric syndrome 2	GPathogenic
Select item 828128	NM_006929.5(SKIC2):c.1297C>T (p.Arg433Cys)	SKIC2 (R433C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 800925	NM_006929.5(SKIC2):c.3561_3581del (p.Ser1189_Leu1195del)	SKIC2	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 770172	NM_006929.5(SKIC2):c.741C>G (p.Cys247Trp)	SKIC2 (C247W)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2 +1 more	GBenign
Select item 689443	NM_006929.5(SKIC2):c.2977dup (p.Met993fs)	SKIC2 (M993fs)	Duplication (frameshift variant)	Trichohepatoenteric syndrome 2	GLikely pathogenic
Select item 631979	NM_006929.5(SKIC2):c.3637dup (p.Ala1213fs)	SKIC2 (A1213fs)	Duplication (frameshift variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 631978	NM_006929.5(SKIC2):c.757C>T (p.Arg253Ter)	SKIC2 (R253*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 561107	NM_006929.5(SKIC2):c.2341-2A>G	SKIC2	Single nucleotide variant (splice acceptor variant)	Trichohepatoenteric syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 377168	NM_006929.5(SKIC2):c.970C>T (p.Arg324Trp)	LOC126859653, SKIC2 (R324W)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 356356	NM_006929.5(SKIC2):c.*19T>C	SKIC2	Single nucleotide variant (3 prime UTR variant)	Trichohepatoenteric syndrome 2	GBenign
Select item 356355	NM_006929.5(SKIC2):c.3719C>T (p.Ala1240Val)	SKIC2 (A1240V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 356354	NM_006929.5(SKIC2):c.3711C>T (p.Ile1237=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356353	NM_006929.5(SKIC2):c.3666G>A (p.Leu1222=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356352	NM_006929.5(SKIC2):c.3540+7A>G	SKIC2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356351	NM_006929.5(SKIC2):c.3467A>T (p.Gln1156Leu)	SKIC2 (Q1156L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 356350	NM_006929.5(SKIC2):c.3430C>T (p.Arg1144Trp)	SKIC2 (R1144W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 356349	NM_006929.5(SKIC2):c.3409C>T (p.Arg1137Cys)	SKIC2 (R1137C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356348	NM_006929.5(SKIC2):c.3310C>T (p.Arg1104Trp)	SKIC2 (R1104W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 356347	NM_006929.5(SKIC2):c.3213G>A (p.Ala1071=)	SKIC2	Single nucleotide variant (synonymous variant)	Trichohepatoenteric syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 356346	NM_006929.5(SKIC2):c.3212C>T (p.Ala1071Val)	SKIC2 (A1071V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 356345	NM_006929.5(SKIC2):c.3201T>C (p.Tyr1067=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 356344	NM_006929.5(SKIC2):c.3070-7T>C	SKIC2	Single nucleotide variant (intron variant)	Trichohepatoenteric syndrome 2 +1 more	GBenign
Select item 356343	NM_006929.5(SKIC2):c.2764C>G (p.Pro922Ala)	SKIC2 (P922A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 356342	NM_006929.5(SKIC2):c.2749G>A (p.Val917Met)	SKIC2 (V917M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 356341	NM_006929.5(SKIC2):c.2703C>T (p.Leu901=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356340	NM_006929.5(SKIC2):c.2659G>A (p.Asp887Asn)	SKIC2 (D887N)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2 +1 more	GBenign
Select item 356339	NM_006929.5(SKIC2):c.2446G>A (p.Glu816Lys)	SKIC2 (E816K)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 356338	NM_006929.5(SKIC2):c.2401A>G (p.Met801Val)	SKIC2 (M801V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 356337	NM_006929.5(SKIC2):c.2340+13G>A	SKIC2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356336	NM_006929.5(SKIC2):c.2211G>A (p.Pro737=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 356335	NM_006929.5(SKIC2):c.2203-12A>G	SKIC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 356334	NM_006929.5(SKIC2):c.2165G>A (p.Arg722Gln)	SKIC2 (R722Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 356333	NM_006929.5(SKIC2):c.2068C>T (p.Arg690Trp)	SKIC2 (R690W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 356332	NM_006929.5(SKIC2):c.2060C>A (p.Ser687Tyr)	SKIC2 (S687Y)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 356331	NM_006929.5(SKIC2):c.2052C>T (p.His684=)	SKIC2	Single nucleotide variant (synonymous variant)	Trichohepatoenteric syndrome 2 +1 more	GBenign
Select item 356330	NM_006929.5(SKIC2):c.1890C>T (p.Arg630=)	SKIC2	Single nucleotide variant (synonymous variant)	Trichohepatoenteric syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 356329	NM_006929.5(SKIC2):c.1808T>C (p.Phe603Ser)	SKIC2 (F603S)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 356328	NM_006929.5(SKIC2):c.1705G>A (p.Val569Met)	SKIC2 (V569M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 356327	NM_006929.5(SKIC2):c.1694C>T (p.Ala565Val)	SKIC2 (A565V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 356326	NM_006929.5(SKIC2):c.1200A>G (p.Thr400=)	LOC126859653, SKIC2	Single nucleotide variant (synonymous variant)	Trichohepatoenteric syndrome 2 +1 more	GBenign
Select item 356325	NM_006929.5(SKIC2):c.1173G>A (p.Pro391=)	LOC126859653, SKIC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 356324	NM_006929.5(SKIC2):c.1151C>T (p.Thr384Ile)	LOC126859653, SKIC2 (T384I)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 356323	NM_006929.5(SKIC2):c.1041C>T (p.Ala347=)	LOC126859653, SKIC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 356322	NM_006929.5(SKIC2):c.954C>T (p.Ala318=)	LOC126859653, SKIC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356321	NM_006929.5(SKIC2):c.901C>T (p.Pro301Ser)	SKIC2 (P301S)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 356320	NM_006929.5(SKIC2):c.791A>T (p.Glu264Val)	SKIC2 (E264V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 356319	NM_006929.5(SKIC2):c.774A>G (p.Glu258=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 356318	NM_006929.5(SKIC2):c.640A>C (p.Met214Leu)	SKIC2 (M214L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 356317	NM_006929.5(SKIC2):c.585C>T (p.Asp195=)	SKIC2	Single nucleotide variant (synonymous variant)	Trichohepatoenteric syndrome 2 +1 more	GBenign/Likely benign
Select item 356316	NM_006929.5(SKIC2):c.452A>G (p.Gln151Arg)	SKIC2 (Q151R)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2 +2 more	GBenign/Likely benign
Select item 356315	NM_006929.5(SKIC2):c.422C>T (p.Ala141Val)	SKIC2 (A141V)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 356314	NM_006929.5(SKIC2):c.384T>C (p.Ala128=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 356313	NM_006929.5(SKIC2):c.279C>G (p.Val93=)	SKIC2	Single nucleotide variant (synonymous variant)	Trichohepatoenteric syndrome 2 +1 more	GBenign
Select item 356312	NM_006929.5(SKIC2):c.254C>T (p.Thr85Met)	SKIC2 (T85M)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 2 +1 more	GLikely benign

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