23077[HGNC] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic
Select item 3303675	NM_017670.3(OTUB1):c.29A>G (p.Lys10Arg)	OTUB1 (K10R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256664	NM_017670.3(OTUB1):c.77A>G (p.Tyr26Cys)	OTUB1 (Y26C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217901	NM_017670.3(OTUB1):c.77A>C (p.Tyr26Ser)	OTUB1 (Y26S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207341	NM_017670.3(OTUB1):c.199A>G (p.Ile67Val)	OTUB1 (I67V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207342	NM_017670.3(OTUB1):c.239C>T (p.Ser80Leu)	OTUB1 (S80L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406394	NM_017670.3(OTUB1):c.337C>T (p.Arg113Trp)	OTUB1 (R113W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361174	NM_017670.3(OTUB1):c.350T>C (p.Val117Ala)	OTUB1 (V117A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259826	NM_017670.3(OTUB1):c.563A>G (p.Lys188Arg)	OTUB1 (K188R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386709	NM_017670.3(OTUB1):c.684C>A (p.Ser228Arg)	OTUB1 (S228R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244550	NC_000011.9:g.(?_63731700)_(64572142_?)del	BAD, CATSPERZ +28 more	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685408	GRCh37/hg19 11q13.1(chr11:63643711-64533636)x1	BAD, CATSPERZ +29 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 634998	dup(11)(q13.1q13.1)	ATG2A, BAD +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 21