Related gene-specific medical variations for Gene (Select 81603) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3182828	NM_030912.3(TRIM8):c.119G>C (p.Gly40Ala)	LOC130004618, TRIM8 (G40A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3005459	NM_030912.3(TRIM8):c.218A>G (p.Asn73Ser)	LOC130004618, TRIM8 (N73S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2976414	NM_030912.3(TRIM8):c.191G>C (p.Gly64Ala)	LOC130004618, TRIM8 (G64A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2803022	NM_030912.3(TRIM8):c.147C>T (p.Leu49=)	LOC130004618, TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2690268	NM_030912.3(TRIM8):c.823C>T (p.Arg275Cys)	TRIM8 (R243C +1 more)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis and neurodevelopmental syndrome	GUncertain significance
Select item 2627921	NM_030912.3(TRIM8):c.1474del (p.His492fs)	TRIM8 (H460fs +1 more)	Deletion (frameshift variant +1 more)	Focal segmental glomerulosclerosis and neurodevelopmental syndrome	GLikely pathogenic
Select item 2230011	NM_030912.3(TRIM8):c.136G>A (p.Asp46Asn)	LOC130004618, TRIM8 (D46N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2183141	NM_030912.3(TRIM8):c.189G>C (p.Pro63=)	LOC130004618, TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2085116	NM_030912.3(TRIM8):c.238G>T (p.Ala80Ser)	LOC130004618, TRIM8 (A80S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2077612	NM_030912.3(TRIM8):c.120C>T (p.Gly40=)	LOC130004618, TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2049497	NM_030912.3(TRIM8):c.210G>A (p.Lys70=)	LOC130004618, TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2013585	NM_030912.3(TRIM8):c.231G>A (p.Lys77=)	TRIM8, LOC130004618	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1981031	NM_030912.3(TRIM8):c.238G>A (p.Ala80Thr)	LOC130004618, TRIM8 (A80T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1973107	NM_030912.3(TRIM8):c.180C>T (p.Asn60=)	LOC130004618, TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1949042	NM_030912.3(TRIM8):c.184A>C (p.Lys62Gln)	LOC130004618, TRIM8 (K62Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1933411	NM_030912.3(TRIM8):c.189G>A (p.Pro63=)	LOC130004618, TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1355289	NM_030912.3(TRIM8):c.190G>T (p.Gly64Cys)	TRIM8, LOC130004618 (G64C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1344830	NM_030912.3(TRIM8):c.1461C>G (p.Tyr487Ter)	TRIM8 (Y455* +1 more)	Single nucleotide variant (nonsense +1 more)	Focal segmental glomerulosclerosis +2 more	GLikely pathogenic
Select item 1344829	NM_030912.3(TRIM8):c.1240C>T (p.Gln414Ter)	TRIM8 (Q382* +1 more)	Single nucleotide variant (nonsense +1 more)	Focal segmental glomerulosclerosis and neurodevelopmental syndrome	GPathogenic
Select item 1318558	NM_030912.3(TRIM8):c.154T>A (p.Cys52Ser)	LOC130004618, TRIM8 (C52S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1299333	NM_030912.3(TRIM8):c.167_169delinsTCT (p.Asn56_Gln57delinsIleTer)	LOC130004618, TRIM8	Indel (nonsense +1 more)	Focal segmental glomerulosclerosis and neurodevelopmental syndrome	GUncertain significance
Select item 986857	NM_030912.3(TRIM8):c.1267C>T (p.Gln423Ter)	TRIM8 (Q391* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 92016	NM_030912.3(TRIM8):c.1561G>T (p.Val521Phe)	TRIM8 (V521F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Links from Gene

Items: 23