ClinVar for Gene (Select 119180) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292430	NM_183058.3(LYZL2):c.185A>C (p.Gln62Pro)	LYZL2 (Q62P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121771	NM_183058.3(LYZL2):c.-91T>G	LYZL2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3121770	NM_183058.3(LYZL2):c.185A>G (p.Gln62Arg)	LYZL2 (Q62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121769	NM_183058.3(LYZL2):c.-9G>A	LYZL2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2640393	NM_183058.3(LYZL2):c.153G>A (p.Ala51=)	LYZL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617692	NM_183058.3(LYZL2):c.281G>T (p.Cys94Phe)	LYZL2 (C94F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2556379	NM_183058.3(LYZL2):c.54G>C (p.Glu18Asp)	LYZL2 (E18D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542785	NM_183058.3(LYZL2):c.100G>T (p.Ala34Ser)	LYZL2 (A34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515446	NM_183058.3(LYZL2):c.95C>T (p.Ser32Leu)	LYZL2 (S32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509213	NM_183058.3(LYZL2):c.254G>A (p.Arg85His)	LYZL2 (R85H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2467493	NM_183058.3(LYZL2):c.52G>A (p.Glu18Lys)	LYZL2 (E18K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457809	NM_183058.3(LYZL2):c.152C>T (p.Ala51Val)	LYZL2 (A51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426436	NC_000010.10:g.(?_30602538)_(31816192_?)dup	LYZL2, MAP3K8 +3 more	Duplication	not provided	GUncertain significance
Select item 2388027	NM_183058.3(LYZL2):c.269A>G (p.Glu90Gly)	LYZL2 (E90G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378633	NM_183058.3(LYZL2):c.-25G>T	LYZL2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2357445	NM_183058.3(LYZL2):c.-41G>A	LYZL2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2341818	NM_183058.3(LYZL2):c.431A>G (p.Asp144Gly)	LYZL2 (D144G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2233542	NM_183058.3(LYZL2):c.419A>G (p.Asp140Gly)	LYZL2 (D140G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1328108	GRCh37/hg19 10p11.23-11.22(chr10:30624523-33688350)x1	ARHGAP12, CCDC7 +9 more	Copy number loss	not provided	GPathogenic
Select item 815328	GRCh37/hg19 10p11.23(chr10:30643653-30963934)x3	LYZL2, MAP3K8	Copy number gain	not provided	GUncertain significance
Select item 815327	GRCh37/hg19 10p11.23-11.22(chr10:30138613-31334200)x3	MTPAP, MAP3K8 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 221474	GRCh37/hg19 10p11.23(chr10:30728036-30900919)x3	LYZL2, MAP3K8	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic

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Links from Gene

Items: 32