Related gene-specific medical variations for Gene (Select 7067) - ClinVar - NCBI

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Links from Gene

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3201864	NM_021724.5(NR1D1):c.1829G>A (p.Arg610Gln)	NR1D1, THRA (P397L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201863	NM_021724.5(NR1D1):c.1732C>T (p.Arg578Trp)	NR1D1, THRA (R578W)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3025362	NM_021724.5(NR1D1):c.1646-13G>A	NR1D1, THRA	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2357624	NM_021724.5(NR1D1):c.*23G>A	NR1D1, THRA (A384V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2322280	NM_021724.5(NR1D1):c.1750C>T (p.Arg584Cys)	NR1D1, THRA (R584C)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2214705	NM_021724.5(NR1D1):c.*60T>A	NR1D1, THRA (R372*)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1319909	NM_021724.5(NR1D1):c.*44G>A	NR1D1, THRA (S377L)	Single nucleotide variant (intron variant +2 more)	Congenital nongoitrous hypothyroidism 6	GUncertain significance
Select item 1299533	NM_021724.5(NR1D1):c.1646-42dup	NR1D1, THRA (S434fs +1 more)	Duplication (frameshift variant +1 more)	Congenital nongoitrous hypothyroidism 6	GPathogenic
Select item 259020	NM_199334.5(THRA):c.351C>T (p.Ala117=)	THRA	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 225490	NM_021724.5(NR1D1):c.1653G>A (p.Ser551=)	NR1D1, THRA (R417* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital nongoitrous hypothyroidism 6	GUncertain significance