25845[HGNC] - ClinVar

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Items: 22

	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 3298282	NM_024771.4(NAA40):c.94G>C (p.Ala32Pro)	NAA40 (A11P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280262	NM_024771.4(NAA40):c.181C>G (p.Arg61Gly)	NAA40 (R61G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171679	NM_024771.4(NAA40):c.284G>A (p.Arg95Gln)	NAA40 (R95Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248546	NM_024771.4(NAA40):c.367C>T (p.His123Tyr)	NAA40 (H123Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556019	NM_024771.4(NAA40):c.413A>G (p.Tyr138Cys)	NAA40 (Y138C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295314	NM_024771.4(NAA40):c.430A>G (p.Ser144Gly)	NAA40 (S144G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171690	NM_024771.4(NAA40):c.484A>G (p.Met162Val)	NAA40 (M141V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171693	NM_024771.4(NAA40):c.553T>C (p.Phe185Leu)	NAA40 (F164L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171695	NM_024771.4(NAA40):c.580A>G (p.Ile194Val)	NAA40 (I173V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171700	NM_024771.4(NAA40):c.626G>C (p.Cys209Ser)	NAA40 (C188S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171705	NM_024771.4(NAA40):c.682G>A (p.Ala228Thr)	NAA40 (A228T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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: 22