ClinVar for MedGen (Select 1684717) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1803274	NM_005647.4(TBL1X):c.1369A>T (p.Ile457Phe)	TBL1X (I406F +1 more)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 8	GUncertain significance
Select item 1334931	NM_005647.4(TBL1X):c.1054-41C>A	TBL1X	Single nucleotide variant (intron variant)	Hypothyroidism, congenital, nongoitrous, 8	GBenign
Select item 1334930	NM_005647.4(TBL1X):c.892-24G>T	TBL1X	Single nucleotide variant (intron variant)	Hypothyroidism, congenital, nongoitrous, 8	GBenign
Select item 1334929	NM_005647.4(TBL1X):c.749+22dup	TBL1X	Duplication (intron variant)	Hypothyroidism, congenital, nongoitrous, 8	GBenign
Select item 1233016	NM_005647.4(TBL1X):c.749+15G>A	TBL1X	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 870341	NM_005647.4(TBL1X):c.1258T>C (p.Trp420Arg)	TBL1X (W420R +1 more)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 8	GUncertain significance
Select item 870340	NM_005647.4(TBL1X):c.1249G>A (p.Ala417Thr)	TBL1X (A417T +1 more)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 8	GUncertain significance
Select item 691491	NM_005647.4(TBL1X):c.1015C>T (p.Arg339Ter)	TBL1X (R339* +1 more)	Single nucleotide variant (nonsense)	Hypothyroidism, congenital, nongoitrous, 8	GLikely pathogenic
Select item 691490	NM_005647.4(TBL1X):c.1526A>G (p.Tyr509Cys)	TBL1X (Y458C +1 more)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 8	GUncertain significance
Select item 691489	NM_005647.4(TBL1X):c.1510C>T (p.His504Tyr)	TBL1X (H453Y +1 more)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 8	GUncertain significance
Select item 691488	NM_005647.4(TBL1X):c.1246A>T (p.Asn416Tyr)	TBL1X (N365Y +1 more)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 8	GUncertain significance