Related gene-specific medical variations for Gene (Select 9652) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246521	NC_000005.9:g.(?_94848316)_(94858670_?)del	SKIC3	Deletion	not provided	GLikely pathogenic
Select item 3246520	NC_000005.9:g.(?_94872501)_(94872865_?)del	SKIC3	Deletion	not provided	GPathogenic
Select item 3246519	NC_000005.9:g.(?_94813974)_(94820569_?)del	SKIC3	Deletion	not provided	GPathogenic
Select item 3246517	NC_000005.9:g.(?_94826592)_(94830741_?)del	SKIC3	Deletion	not provided	GPathogenic
Select item 3246516	NC_000005.9:g.(?_94828832)_(94833106_?)del	SKIC3	Deletion	not provided	GPathogenic
Select item 3246515	NC_000005.9:g.(?_94833100)_(94834315_?)del	SKIC3	Deletion	not provided	GPathogenic
Select item 3246514	NC_000005.9:g.(?_94856400)_(94859558_?)del	SKIC3	Deletion	not provided	GPathogenic
Select item 3246513	NC_000005.9:g.(?_94861082)_(94861397_?)del	SKIC3	Deletion	not provided	GPathogenic
Select item 3238847	NM_014639.4(SKIC3):c.3055_3056dup (p.Asn1020fs)	SKIC3 (N1020fs)	Duplication (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 2437394	NM_014639.4(SKIC3):c.*1C>G	SKIC3	Single nucleotide variant (3 prime UTR variant)	Trichohepatoenteric syndrome 1	GUncertain significance
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 2429431	NM_014639.4(SKIC3):c.91-5A>G	SKIC3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2429430	NM_014639.4(SKIC3):c.710A>G (p.Gln237Arg)	SKIC3 (Q237R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804452	NM_014639.4(SKIC3):c.4070del (p.Pro1357fs)	SKIC3 (P1357fs)	Deletion (frameshift variant)	Trichohepatoenteric syndrome 1	GLikely pathogenic
Select item 591766	NM_014639.4(SKIC3):c.188A>G (p.Tyr63Cys)	SKIC3 (Y63C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591678	NM_014639.4(SKIC3):c.1309_1311delinsGTG (p.Leu437Val)	SKIC3 (L437V)	Indel (missense variant)	not provided	GUncertain significance
Select item 591284	NM_014639.4(SKIC3):c.701C>G (p.Pro234Arg)	SKIC3 (P234R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 376820	NM_014639.4(SKIC3):c.358A>C (p.Lys120Gln)	SKIC3 (K120Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 161678	NM_014639.4(SKIC3):c.140G>C (p.Gly47Ala)	SKIC3 (G47A)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 31231	SKIC3, IVS28AS, G-A, -2	SKIC3	Single nucleotide variant	Trichohepatoenteric syndrome 1	GPathogenic

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Links from Gene

Items: 23