6642[HGNC] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 2326174	NM_005574.4(LMO2):c.631A>G (p.Ile211Val)	LMO2 (I142V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771440	NM_005574.4(LMO2):c.543C>T (p.Asp181=)	LMO2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2331723	NM_005574.4(LMO2):c.490G>T (p.Ala164Ser)	LMO2 (A95S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119353	NM_005574.4(LMO2):c.484C>T (p.Leu162Phe)	LMO2 (L162F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235312	NM_005574.4(LMO2):c.394C>T (p.Arg132Trp)	LMO2 (R132W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119352	NM_005574.4(LMO2):c.374G>A (p.Ser125Asn)	LMO2 (S125N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409912	NM_005574.4(LMO2):c.326G>A (p.Arg109His)	LMO2 (R40H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119350	NM_005574.4(LMO2):c.254C>T (p.Pro85Leu)	LMO2 (P16L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482833	NM_005574.4(LMO2):c.220A>C (p.Ile74Leu)	LMO2 (I5L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290975	NM_005574.4(LMO2):c.173C>T (p.Ala58Val)	LMO2 (A58V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3119349	NM_005574.4(LMO2):c.128G>A (p.Gly43Glu)	LMO2, LOC130005521 (G43E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3290976	NM_005574.4(LMO2):c.103G>A (p.Gly35Ser)	LMO2, LOC130005521 (G35S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3119354	NM_005574.4(LMO2):c.91G>A (p.Asp31Asn)	LMO2, LOC130005521 (D31N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2569372	NM_005574.4(LMO2):c.52G>C (p.Ala18Pro)	LMO2, LOC130005522 (A18P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3119351	NM_005574.4(LMO2):c.31C>G (p.Arg11Gly)	LMO2, LOC130005522 (R11G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2594878	NM_005574.4(LMO2):c.25C>T (p.Leu9Phe)	LMO2, LOC130005522 (L9F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2490080	NM_005574.4(LMO2):c.14C>T (p.Ala5Val)	LMO2, LOC130005522 (A5V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527635	GRCh37/hg19 11p13-12(chr11:32782607-36404823)	ABTB2, APIP +26 more	Copy number gain	not specified	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815425	GRCh37/hg19 11p13(chr11:33221821-34569417)x1	ELF5, FBXO3 +9 more	Copy number loss	not provided	GUncertain significance
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 563870	GRCh37/hg19 11p13(chr11:32573618-34130228)x1	LMO2, NAT10 +14 more	Copy number loss	not provided	GUncertain significance
Select item 563865	GRCh37/hg19 11p13(chr11:33297483-34359612)x3	LMO2, HIPK3 +7 more	Copy number gain	not provided	GUncertain significance
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
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 395339	GRCh37/hg19 11p13(chr11:31210842-35436121)x1	ABTB2, APIP +30 more	Copy number loss	See cases	GPathogenic
Select item 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	See cases	GPathogenic

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Items: 36