"GeneDx"[submitter] AND "OTUD5"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58615	GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3	AKAP4, BMP15 +213 more	Copy number gain	See cases	GPathogenic
Select item 3371832	NM_001136157.2(OTUD5):c.1695G>C (p.Lys565Asn)	OTUD5 (K348N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710154	NM_001136157.2(OTUD5):c.1511C>T (p.Pro504Leu)	OTUD5 (P287L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428947	NM_001136157.2(OTUD5):c.1460C>T (p.Ala487Val)	OTUD5 (A270V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504722	NM_001136157.2(OTUD5):c.1352G>C (p.Arg451Pro)	OTUD5 (R234P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574968	NM_001136157.2(OTUD5):c.1343C>T (p.Pro448Leu)	OTUD5 (P231L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369603	NM_001136157.2(OTUD5):c.746A>G (p.Asp249Gly)	OTUD5 (D249G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363448	NM_001136157.2(OTUD5):c.544G>C (p.Glu182Gln)	OTUD5 (E182Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2571905	NM_001136157.2(OTUD5):c.494G>T (p.Ser165Ile)	OTUD5 (S165I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2313559	NM_001136157.2(OTUD5):c.428G>C (p.Cys143Ser)	OTUD5 (C143S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3365416	NM_001136157.2(OTUD5):c.325C>G (p.Pro109Ala)	LOC130068266, OTUD5 (P109A)	Single nucleotide variant (missense variant +1 more)	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 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 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 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	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 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 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: 27