"GeneDx"[submitter] AND "IRS4"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 1695800	NM_001379150.1(IRS4):c.3728T>G (p.Phe1243Cys)	IRS4 (F1243C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581969	NM_001379150.1(IRS4):c.2282C>T (p.Ala761Val)	IRS4 (A761V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2499351	NM_001379150.1(IRS4):c.1702C>T (p.His568Tyr)	IRS4 (H568Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506690	NM_001379150.1(IRS4):c.1553G>A (p.Gly518Glu)	IRS4 (G518E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369499	NM_001379150.1(IRS4):c.692A>G (p.Tyr231Cys)	IRS4 (Y231C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 691492	NM_001379150.1(IRS4):c.643G>T (p.Gly215Ter)	IRS4 (G215*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2500573	NM_001379150.1(IRS4):c.499dup (p.Leu167fs)	IRS4 (L167fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 25