SKIC2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 356299	NM_006929.4(SKIC2):c.-370C>T	NELFE, SKIC2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 356300	NM_006929.4(SKIC2):c.-280G>T	NELFE, SKIC2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 356301	NM_006929.4(SKIC2):c.-273G>A	NELFE, SKIC2	Single nucleotide variant (5 prime UTR variant)	Trichohepatoenteric syndrome	GUncertain significance
Select item 356302	NM_006929.4(SKIC2):c.-269T>C	NELFE, SKIC2	Single nucleotide variant (5 prime UTR variant)	Trichohepatoenteric syndrome	GUncertain significance
Select item 356303	NM_006929.4(SKIC2):c.-249C>G	NELFE, SKIC2	Single nucleotide variant (5 prime UTR variant)	Trichohepatoenteric syndrome	GUncertain significance
Select item 356304	NM_006929.4(SKIC2):c.-224G>A	NELFE, SKIC2	Single nucleotide variant (5 prime UTR variant)	Trichohepatoenteric syndrome	GUncertain significance
Select item 356305	NM_006929.4(SKIC2):c.-195C>T	SKIC2	Single nucleotide variant	Trichohepatoenteric syndrome	GUncertain significance
Select item 356306	NM_006929.4(SKIC2):c.-193A>C	SKIC2	Single nucleotide variant	Trichohepatoenteric syndrome	GUncertain significance
Select item 356307	NM_006929.4(SKIC2):c.-43T>C	SKIC2	Single nucleotide variant	Trichohepatoenteric syndrome	GUncertain significance
Select item 356308	NM_006929.4(SKIC2):c.-22A>T	SKIC2	Single nucleotide variant	Trichohepatoenteric syndrome	GUncertain significance
Select item 356309	NM_006929.5(SKIC2):c.-14G>A	SKIC2	Single nucleotide variant (5 prime UTR variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 1973365	NM_006929.5(SKIC2):c.1A>G (p.Met1Val)	SKIC2 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2746128	NM_006929.5(SKIC2):c.9G>A (p.Glu3=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999212	NM_006929.5(SKIC2):c.22+1G>T	SKIC2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2838538	NM_006929.5(SKIC2):c.22+1G>A	SKIC2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2968558	NM_006929.5(SKIC2):c.22+3G>T	SKIC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1967474	NM_006929.5(SKIC2):c.22+5G>A	SKIC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1624628	NM_006929.5(SKIC2):c.22+8G>C	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2762945	NM_006929.5(SKIC2):c.22+9G>A	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1569070	NM_006929.5(SKIC2):c.22+10A>G	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923094	NM_006929.5(SKIC2):c.22+14G>A	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907009	NM_006929.5(SKIC2):c.22+14G>C	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2053730	NM_006929.5(SKIC2):c.22+16G>A	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1668573	NM_006929.5(SKIC2):c.22+18G>A	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853136	NM_006929.5(SKIC2):c.22+21del	SKIC2	Deletion (intron variant)	not provided	GLikely benign
Select item 2999071	NM_006929.5(SKIC2):c.23-20C>T	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864236	NM_006929.5(SKIC2):c.23-18T>C	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 907288	NM_006929.5(SKIC2):c.23-14A>T	SKIC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1945230	NM_006929.5(SKIC2):c.23-8C>T	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997635	NM_006929.5(SKIC2):c.23-5C>T	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1565336	NM_006929.5(SKIC2):c.25C>T (p.Leu9=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791250	NM_006929.5(SKIC2):c.27A>G (p.Leu9=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1449394	NM_006929.5(SKIC2):c.29C>T (p.Pro10Leu)	SKIC2 (P10L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484770	NM_006929.5(SKIC2):c.31C>G (p.Pro11Ala)	SKIC2 (P11A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380603	NM_006929.5(SKIC2):c.32C>T (p.Pro11Leu)	SKIC2 (P11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2727941	NM_006929.5(SKIC2):c.39T>C (p.Asp13=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1408340	NM_006929.5(SKIC2):c.50T>C (p.Leu17Pro)	SKIC2 (L17P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2714596	NM_006929.5(SKIC2):c.51A>T (p.Leu17=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828542	NM_006929.5(SKIC2):c.60G>A (p.Arg20=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1907816	NM_006929.5(SKIC2):c.77G>A (p.Cys26Tyr)	SKIC2 (C26Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478678	NM_006929.5(SKIC2):c.79A>G (p.Thr27Ala)	SKIC2 (T27A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004525	NM_006929.5(SKIC2):c.85C>T (p.His29Tyr)	SKIC2 (H29Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2767337	NM_006929.5(SKIC2):c.91G>T (p.Glu31Ter)	SKIC2 (E31*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1608957	NM_006929.5(SKIC2):c.99G>T (p.Leu33=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702419	NM_006929.5(SKIC2):c.105G>A (p.Leu35=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1963114	NM_006929.5(SKIC2):c.106C>G (p.Pro36Ala)	SKIC2 (P36A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058246	NM_006929.5(SKIC2):c.112G>A (p.Ala38Thr)	SKIC2 (A38T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1355236	NM_006929.5(SKIC2):c.112G>C (p.Ala38Pro)	SKIC2 (A38P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1285126	NM_006929.5(SKIC2):c.116C>T (p.Pro39Leu)	SKIC2 (P39L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 356310	NM_006929.5(SKIC2):c.120G>A (p.Glu40=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2866918	NM_006929.5(SKIC2):c.121del (p.Ser41fs)	SKIC2 (S41fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2683782	NM_006929.5(SKIC2):c.126+4A>G	SKIC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2998032	NM_006929.5(SKIC2):c.126+12T>C	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2733459	NM_006929.5(SKIC2):c.126+13T>G	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768873	NM_006929.5(SKIC2):c.126+18C>G	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220566	NM_006929.5(SKIC2):c.126+165A>G	SKIC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2789141	NM_006929.5(SKIC2):c.127-16C>T	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857324	NM_006929.5(SKIC2):c.127-11C>T	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834469	NM_006929.5(SKIC2):c.127-8T>C	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1496827	NM_006929.5(SKIC2):c.127C>A (p.Leu43Ile)	SKIC2 (L43I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 356311	NM_006929.5(SKIC2):c.132C>T (p.Pro44=)	SKIC2	Single nucleotide variant (synonymous variant)	Trichohepatoenteric syndrome 2	GUncertain significance
Select item 1599638	NM_006929.5(SKIC2):c.171A>G (p.Glu57=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3318715	NM_006929.5(SKIC2):c.173C>T (p.Ala58Val)	SKIC2 (A58V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2696379	NM_006929.5(SKIC2):c.174A>G (p.Ala58=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823051	NM_006929.5(SKIC2):c.178C>T (p.Gln60Ter)	SKIC2 (Q60*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 595834	NM_006929.5(SKIC2):c.179A>G (p.Gln60Arg)	SKIC2 (Q60R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1362503	NM_006929.5(SKIC2):c.200C>G (p.Ala67Gly)	SKIC2 (A67G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1555285	NM_006929.5(SKIC2):c.207G>T (p.Leu69=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1525286	NM_006929.5(SKIC2):c.215A>C (p.His72Pro)	SKIC2 (H72P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948297	NM_006929.5(SKIC2):c.217G>C (p.Gly73Arg)	SKIC2 (G73R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1351949	NM_006929.5(SKIC2):c.223G>A (p.Glu75Lys)	SKIC2 (E75K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1984818	NM_006929.5(SKIC2):c.236G>A (p.Arg79Gln)	SKIC2 (R79Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1514190	NM_006929.5(SKIC2):c.236+5G>A	SKIC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2996362	NM_006929.5(SKIC2):c.236+12G>A	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767794	NM_006929.5(SKIC2):c.236+14A>C	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828322	NM_006929.5(SKIC2):c.236+16G>A	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847218	NM_006929.5(SKIC2):c.236+20T>C	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808954	NM_006929.5(SKIC2):c.237-20G>A	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2026805	NM_006929.5(SKIC2):c.237-18T>C	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776721	NM_006929.5(SKIC2):c.237-16C>T	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2763638	NM_006929.5(SKIC2):c.237-15dup	SKIC2	Duplication (intron variant)	not provided	GLikely benign
Select item 1623539	NM_006929.5(SKIC2):c.237-8C>A	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784573	NM_006929.5(SKIC2):c.237-5T>C	SKIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2722716	NM_006929.5(SKIC2):c.239_240del (p.Lys80fs)	SKIC2 (K80fs)	Deletion (frameshift variant)	not provided	GPathogenic
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
Select item 2956642	NM_006929.5(SKIC2):c.255G>A (p.Thr85=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1642710	NM_006929.5(SKIC2):c.255G>T (p.Thr85=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1396694	NM_006929.5(SKIC2):c.260C>T (p.Pro87Leu)	SKIC2 (P87L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1549498	NM_006929.5(SKIC2):c.261C>T (p.Pro87=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848399	NM_006929.5(SKIC2):c.262_263insAGATCC (p.Trp88Ter)	SKIC2 (W88*)	Insertion (nonsense)	not provided	GPathogenic
Select item 3162622	NM_006929.5(SKIC2):c.266C>T (p.Ser89Phe)	SKIC2 (S89F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1524203	NM_006929.5(SKIC2):c.287C>G (p.Ala96Gly)	SKIC2 (A96G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708728	NM_006929.5(SKIC2):c.295C>T (p.Pro99Ser)	SKIC2 (P99S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1589942	NM_006929.5(SKIC2):c.300C>T (p.Ser100=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1908562	NM_006929.5(SKIC2):c.303C>A (p.Asp101Glu)	SKIC2 (D101E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1416314	NM_006929.5(SKIC2):c.308A>G (p.Gln103Arg)	SKIC2 (Q103R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856900	NM_006929.5(SKIC2):c.316del (p.Arg106fs)	SKIC2 (R106fs)	Deletion (frameshift variant)	not provided	GPathogenic

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