ClinVar for MedGen (Select 482447) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254965	NM_199334.5(THRA):c.1141C>T (p.His381Tyr)	THRA (H381Y)	Single nucleotide variant (missense variant +1 more)	Congenital nongoitrous hypothyroidism 6	GLikely pathogenic
Select item 3024267	NM_199334.5(THRA):c.896T>C (p.Ile299Thr)	THRA (I299T)	Single nucleotide variant (missense variant)	Congenital nongoitrous hypothyroidism 6	GLikely pathogenic
Select item 1709428	NM_199334.5(THRA):c.121+1G>A	THRA	Single nucleotide variant (splice donor variant)	Congenital nongoitrous hypothyroidism 6	GUncertain significance
Select item 1679212	NM_199334.5(THRA):c.818C>A (p.Thr273Asn)	THRA (T273N)	Single nucleotide variant (missense variant)	Congenital nongoitrous hypothyroidism 6	GLikely pathogenic
Select item 1319909	NM_021724.5(NR1D1):c.*44G>A	NR1D1, THRA (S377L)	Single nucleotide variant (missense 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 992628	NM_199334.5(THRA):c.518A>G (p.Glu173Gly)	THRA (E173G)	Single nucleotide variant (missense variant)	Congenital nongoitrous hypothyroidism 6	GLikely pathogenic
Select item 803389	NM_199334.5(THRA):c.425G>T (p.Arg142Leu)	THRA (R142L)	Single nucleotide variant (missense variant)	Congenital nongoitrous hypothyroidism 6	GUncertain significance
Select item 561132	NM_199334.5(THRA):c.54-1G>A	THRA	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 522121	NM_199334.5(THRA):c.788C>T (p.Ala263Val)	THRA (A263V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
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
Select item 192273	NM_199334.5(THRA):c.1193C>G (p.Pro398Arg)	THRA (P398R)	Single nucleotide variant (missense variant +1 more)	Congenital nongoitrous hypothyroidism 6	GPathogenic
Select item 192272	NM_199334.5(THRA):c.1207G>A (p.Glu403Lys)	THRA (E403K)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 192271	NM_199334.5(THRA):c.1176C>A (p.Cys392Ter)	THRA (C392*)	Single nucleotide variant (nonsense +1 more)	Congenital nongoitrous hypothyroidism 6	GPathogenic
Select item 29914	NM_199334.5(THRA):c.1110G>C (p.Lys370Asn)	THRA (K370N)	Single nucleotide variant (missense variant)	Congenital nongoitrous hypothyroidism 6	GPathogenic
Select item 29913	NM_199334.5(THRA):c.134G>T (p.Ser45Ile)	THRA (S45I)	Single nucleotide variant (missense variant)	Congenital nongoitrous hypothyroidism 6	GPathogenic