ClinVar for MedGen (Select 1644087) - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238847	NM_014639.4(SKIC3):c.3055_3056dup (p.Asn1020fs)	SKIC3 (N1020fs)	Duplication (frameshift variant)	Trichohepatoenteric syndrome 1	GLikely pathogenic
Select item 3236455	NM_014639.4(SKIC3):c.2387del (p.Thr796fs)	SKIC3 (T796fs)	Deletion (frameshift variant)	Trichohepatoenteric syndrome 1	GLikely pathogenic
Select item 3065551	NM_014639.4(SKIC3):c.2181_2182del (p.Tyr728fs)	SKIC3 (Y728fs)	Deletion (frameshift variant)	Trichohepatoenteric syndrome 1	GPathogenic
Select item 3065460	NM_014639.4(SKIC3):c.1045A>G (p.Arg349Gly)	SKIC3 (R349G)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 1	GUncertain significance
Select item 2664221	NM_014639.4(SKIC3):c.3301C>T (p.Gln1101Ter)	SKIC3 (Q1101*)	Single nucleotide variant (nonsense)	Trichohepatoenteric syndrome 1	GLikely pathogenic
Select item 2571907	NM_014639.4(SKIC3):c.53_54del (p.Arg18fs)	SKIC3 (R18fs)	Deletion (frameshift variant)	Trichohepatoenteric syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 2437394	NM_014639.4(SKIC3):c.*1C>G	SKIC3	Single nucleotide variant (3 prime UTR variant)	Trichohepatoenteric syndrome 1	GUncertain significance
Select item 2437393	NM_014639.4(SKIC3):c.4061A>G (p.Lys1354Arg)	SKIC3 (K1354R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2437392	NM_014639.4(SKIC3):c.344G>T (p.Trp115Leu)	SKIC3 (W115L)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 1	GUncertain significance
Select item 2434307	NM_014639.4(SKIC3):c.2778+2T>G	SKIC3	Single nucleotide variant (splice donor variant)	Trichohepatoenteric syndrome 1	GLikely pathogenic
Select item 1806353	NM_014639.4(SKIC3):c.1507T>C (p.Tyr503His)	SKIC3 (Y503H)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 1	GUncertain significance
Select item 1708563	NM_014639.4(SKIC3):c.4102C>T (p.Gln1368Ter)	SKIC3	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1687390	NM_014639.4(SKIC3):c.2842G>T (p.Glu948Ter)	SKIC3 (E948*)	Single nucleotide variant (nonsense)	Trichohepatoenteric syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1687274	NM_014639.4(SKIC3):c.231G>A (p.Trp77Ter)	SKIC3 (W77*)	Single nucleotide variant (nonsense)	Trichohepatoenteric syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1686282	NM_014639.4(SKIC3):c.2849_2850del (p.Glu950fs)	SKIC3 (E950fs)	Microsatellite (frameshift variant)	Trichohepatoenteric syndrome 1	GPathogenic
Select item 1675180	NM_014639.4(SKIC3):c.4108C>T (p.Gln1370Ter)	SKIC3 (Q1370*)	Single nucleotide variant (nonsense)	Trichohepatoenteric syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1675179	NM_014639.4(SKIC3):c.2115-1G>A	SKIC3	Single nucleotide variant (splice acceptor variant)	Trichohepatoenteric syndrome 1	GLikely pathogenic
Select item 1601573	NM_014639.4(SKIC3):c.4081G>A (p.Ala1361Thr)	SKIC3 (A1361T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1484654	NM_014639.4(SKIC3):c.3253C>G (p.Gln1085Glu)	SKIC3 (Q1085E)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 1 +1 more	GUncertain significance
Select item 1466479	NM_014639.4(SKIC3):c.2353_2361del (p.Asn785_Tyr787del)	SKIC3	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1455116	NM_014639.4(SKIC3):c.1374C>G (p.Tyr458Ter)	SKIC3 (Y458*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1390335	NM_014639.4(SKIC3):c.4000A>G (p.Thr1334Ala)	SKIC3 (T1334A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1332713	NM_014639.4(SKIC3):c.2018G>A (p.Gly673Asp)	SKIC3 (G673D)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome +1 more	GLikely pathogenic
Select item 1325251	NM_014639.4(SKIC3):c.828del (p.Ile276fs)	SKIC3 (I276fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1311355	NM_014639.4(SKIC3):c.642+1G>A	SKIC3	Single nucleotide variant (splice donor variant)	Trichohepatoenteric syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1301709	NM_014639.4(SKIC3):c.-228+8T>C	SKIC3	Single nucleotide variant (intron variant)	Trichohepatoenteric syndrome 1	GBenign
Select item 1273875	NM_014639.4(SKIC3):c.3342-37del	SKIC3	Deletion (intron variant)	Trichohepatoenteric syndrome 1 +1 more	GBenign
Select item 1166553	NM_014639.4(SKIC3):c.1309C>G (p.Leu437Val)	SKIC3 (L437V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1166551	NM_014639.4(SKIC3):c.3888G>T (p.Arg1296Ser)	SKIC3 (R1296S)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 1 +1 more	GBenign
Select item 1030343	NM_014639.4(SKIC3):c.829G>A (p.Gly277Ser)	SKIC3 (G277S)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1030342	NM_014639.4(SKIC3):c.4460A>G (p.Gln1487Arg)	SKIC3 (Q1487R)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 1	GUncertain significance
Select item 1030341	NM_014639.4(SKIC3):c.4382A>G (p.Asp1461Gly)	SKIC3 (D1461G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030340	NM_014639.4(SKIC3):c.2125C>T (p.His709Tyr)	SKIC3 (H709Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1030338	NM_014639.4(SKIC3):c.1733G>T (p.Gly578Val)	SKIC3 (G578V)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 1	GUncertain significance
Select item 1030337	NM_014639.4(SKIC3):c.1413A>G (p.Thr471=)	SKIC3	Single nucleotide variant (synonymous variant)	Trichohepatoenteric syndrome 1	GUncertain significance
Select item 931346	NM_014639.4(SKIC3):c.1221+1G>C	SKIC3	Single nucleotide variant (splice donor variant)	Trichohepatoenteric syndrome 1 +1 more	GLikely pathogenic
Select item 827751	NM_014639.4(SKIC3):c.3625C>T (p.Arg1209Ter)	SKIC3 (R1209*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 827750	NM_014639.4(SKIC3):c.1757+1G>A	SKIC3	Single nucleotide variant (splice donor variant)	Trichohepatoenteric syndrome 1 +1 more	GLikely pathogenic
Select item 816870	NM_014639.4(SKIC3):c.2662C>T (p.Gln888Ter)	SKIC3 (Q888*)	Single nucleotide variant (nonsense)	Trichohepatoenteric syndrome 1 +1 more	GPathogenic
Select item 804452	NM_014639.4(SKIC3):c.4070del (p.Pro1357fs)	SKIC3 (P1357fs)	Deletion (frameshift variant)	Trichohepatoenteric syndrome 1	GLikely pathogenic
Select item 800979	NM_014639.4(SKIC3):c.4175_4176dup (p.Val1393fs)	SKIC3 (V1393fs)	Duplication (frameshift variant)	Trichohepatoenteric syndrome 1	GLikely pathogenic
Select item 771827	NM_014639.4(SKIC3):c.4348G>T (p.Ala1450Ser)	SKIC3 (A1450S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 733964	NM_014639.4(SKIC3):c.2275C>T (p.Leu759Phe)	SKIC3 (L759F)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 703882	NM_014639.4(SKIC3):c.2077G>A (p.Val693Ile)	SKIC3 (V693I)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 703690	NM_014639.4(SKIC3):c.3875C>G (p.Thr1292Ser)	SKIC3 (T1292S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 702041	NM_014639.4(SKIC3):c.1392C>T (p.Tyr464=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 689649	NM_014639.4(SKIC3):c.2494G>T (p.Gly832Cys)	SKIC3 (G832C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 689648	NM_014639.4(SKIC3):c.3272del (p.Ile1090_Leu1091insTer)	SKIC3	Deletion (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 626193	NM_014639.4(SKIC3):c.4310G>T (p.Ser1437Ile)	SKIC3 (S1437I)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 561159	NM_014639.4(SKIC3):c.409C>T (p.Arg137Ter)	SKIC3 (R137*)	Single nucleotide variant (nonsense)	Trichohepatoenteric syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 430077	NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala)	SKIC3 (P1270A)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 287653	NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys)	SKIC3 (R1503C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 209130	NM_018238.4(AGK):c.409C>T (p.Arg137Ter)	AGK (R137*)	Single nucleotide variant (nonsense)	Sengers syndrome +3 more	GPathogenic
Select item 199132	NM_014639.4(SKIC3):c.585G>A (p.Lys195=)	SKIC3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 196135	NM_014639.4(SKIC3):c.2808G>A (p.Trp936Ter)	SKIC3 (W936*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 194654	NM_014639.4(SKIC3):c.1427C>G (p.Thr476Arg)	SKIC3 (T476R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 31237	NM_014639.4(SKIC3):c.4620+1G>C	SKIC3	Single nucleotide variant (splice donor variant)	Trichohepatoenteric syndrome 1	GPathogenic
Select item 31236	NM_014639.4(SKIC3):c.2578-7_2578-3del	SKIC3	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 31235	NM_014639.4(SKIC3):c.2515+1G>C	SKIC3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 31234	NM_014639.4(SKIC3):c.2251C>T (p.Gln751Ter)	SKIC3 (Q751*)	Single nucleotide variant (nonsense)	Trichohepatoenteric syndrome 1	GPathogenic
Select item 31233	NM_014639.4(SKIC3):c.439C>T (p.Gln147Ter)	SKIC3 (Q147*)	Single nucleotide variant (nonsense)	Trichohepatoenteric syndrome 1	GPathogenic
Select item 31232	NM_014639.4(SKIC3):c.1632+1del	SKIC3	Deletion (splice donor variant)	Trichohepatoenteric syndrome 1	GPathogenic
Select item 31231	SKIC3, IVS28AS, G-A, -2	SKIC3	Single nucleotide variant	Trichohepatoenteric syndrome 1	GPathogenic

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Items: 63