ClinVar for MedGen (Select 1684807) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1300045	NM_001379150.1(IRS4):c.63G>A (p.Ala21=)	IRS4	Single nucleotide variant (synonymous variant)	Hypothyroidism, congenital, nongoitrous, 9	GBenign
Select item 1284731	NM_001379150.1(IRS4):c.2635C>G (p.His879Asp)	IRS4 (H879D)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 9	GBenign
Select item 1029727	NM_001379150.1(IRS4):c.3215C>T (p.Ala1072Val)	IRS4 (A1072V)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 9	GUncertain significance
Select item 691494	NM_001379150.1(IRS4):c.3161_3165del (p.Cys1054fs)	IRS4 (C1054fs)	Deletion (frameshift variant)	Hypothyroidism, congenital, nongoitrous, 9	GPathogenic
Select item 691493	NM_001379150.1(IRS4):c.1772dup (p.Lys592fs)	IRS4 (K592fs)	Duplication (frameshift variant)	Hypothyroidism, congenital, nongoitrous, 9 +1 more	GPathogenic/Likely pathogenic
Select item 691492	NM_001379150.1(IRS4):c.643G>T (p.Gly215Ter)	IRS4 (G215*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic

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