ClinVar for MedGen (Select 347405) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2504053	NM_014639.4(SKIC3):c.3635del (p.Lys1212fs)	SKIC3 (K1212fs)	Deletion (frameshift variant)	Trichohepatoenteric syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2501187	NM_006929.5(SKIC2):c.1065-2A>G	LOC126859653, SKIC2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 2445922	NM_006929.5(SKIC2):c.1207del (p.Leu403fs)	LOC126859653, SKIC2 (L403fs)	Deletion (frameshift variant)	Trichohepatoenteric syndrome	GLikely pathogenic
Select item 2429244	NC_000005.9:g.(94877085_94877518)_(94886355_94890639)del	SKIC3	Deletion	Trichohepatoenteric syndrome	GLikely pathogenic
Select item 2429243	NC_000005.9:g.(94830722_94833119)_(94834296_94838583)del	SKIC3	Deletion	Trichohepatoenteric syndrome	GLikely pathogenic
Select item 2429227	NM_006929.5(SKIC2):c.1808del (p.Phe603fs)	SKIC2 (F603fs)	Deletion (frameshift variant)	Trichohepatoenteric syndrome	GLikely pathogenic
Select item 2168837	NM_014639.4(SKIC3):c.1166del (p.Leu389fs)	SKIC3 (L389fs)	Deletion (frameshift variant)	Trichohepatoenteric syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2152005	NM_014639.4(SKIC3):c.2114+5G>A	SKIC3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1804797	NM_014639.4(SKIC3):c.2114+2T>A	SKIC3	Single nucleotide variant (splice donor variant)	Trichohepatoenteric syndrome	GLikely pathogenic
Select item 1804785	NM_006929.5(SKIC2):c.3160G>T (p.Glu1054Ter)	SKIC2 (E1054*)	Single nucleotide variant (nonsense)	Trichohepatoenteric syndrome	GLikely pathogenic
Select item 1708563	NM_014639.4(SKIC3):c.4102C>T (p.Gln1368Ter)	SKIC3	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1683327	NM_006929.5(SKIC2):c.1637del (p.Gly546fs)	SKIC2 (G546fs)	Deletion (frameshift variant)	Trichohepatoenteric syndrome	GLikely pathogenic
Select item 1426603	NM_014639.4(SKIC3):c.3807del (p.Pro1270fs)	SKIC3 (P1270fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1343627	NM_006929.5(SKIC2):c.3134C>A (p.Ser1045Ter)	SKIC2 (S1045*)	Single nucleotide variant (nonsense)	Trichohepatoenteric syndrome	GLikely pathogenic
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 1323596	NM_006929.5(SKIC2):c.3187C>T (p.Arg1063Ter)	SKIC2 (R1063*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1192253	NM_014639.4(SKIC3):c.1134+1G>T	SKIC3	Single nucleotide variant (splice donor variant)	Trichohepatoenteric syndrome	GLikely pathogenic
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 666990	NM_014639.4(SKIC3):c.772C>T (p.Gln258Ter)	SKIC3 (Q258*)	Single nucleotide variant (nonsense)	Trichohepatoenteric syndrome	GLikely pathogenic
Select item 356308	NM_006929.4(SKIC2):c.-22A>T	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 356306	NM_006929.4(SKIC2):c.-193A>C	SKIC2	Single nucleotide 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 356304	NM_006929.4(SKIC2):c.-224G>A	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 356302	NM_006929.4(SKIC2):c.-269T>C	NELFE, SKIC2	Single nucleotide variant (5 prime UTR variant)	Trichohepatoenteric syndrome	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 356300	NM_006929.4(SKIC2):c.-280G>T	NELFE, SKIC2	Single nucleotide variant (5 prime UTR variant)	Trichohepatoenteric syndrome +1 more	GUncertain significance
Select item 356299	NM_006929.4(SKIC2):c.-370C>T	NELFE, SKIC2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign

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Items: 29