8044[HGNC] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 127108	NM_005013.2(NUCB2):c.-406C>G	LOC130005389, NUCB2	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 127111	NM_005013.4(NUCB2):c.-166G>C	NUCB2, LOC130005389	Single nucleotide variant (5 prime UTR variant)	not provided	Gnot provided
Select item 3202726	NM_005013.4(NUCB2):c.49T>C (p.Cys17Arg)	NUCB2 (C18R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260126	NM_005013.4(NUCB2):c.62C>T (p.Ala21Val)	NUCB2 (A22V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301352	NM_005013.4(NUCB2):c.77C>G (p.Pro26Arg)	NUCB2 (P26R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352923	NM_005013.4(NUCB2):c.114C>A (p.His38Gln)	NUCB2 (H39Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202724	NM_005013.4(NUCB2):c.187G>A (p.Asp63Asn)	NUCB2 (D63N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255314	NM_005013.4(NUCB2):c.323G>A (p.Arg108Lys)	NUCB2 (R108K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202725	NM_005013.4(NUCB2):c.471G>A (p.Met157Ile)	NUCB2 (M157I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516443	NM_005013.4(NUCB2):c.481G>A (p.Ala161Thr)	NUCB2 (A162T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274852	NM_005013.4(NUCB2):c.539A>G (p.Tyr180Cys)	NUCB2 (Y180C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301353	NM_005013.4(NUCB2):c.637A>G (p.Lys213Glu)	NUCB2 (K214E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311414	NM_005013.4(NUCB2):c.762T>G (p.Asp254Glu)	NUCB2 (D255E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202727	NM_005013.4(NUCB2):c.763G>A (p.Val255Ile)	NUCB2 (V255I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468406	NM_005013.4(NUCB2):c.953T>G (p.Phe318Cys)	NUCB2 (F318C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202728	NM_005013.4(NUCB2):c.985G>C (p.Glu329Gln)	NUCB2 (E330Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204922	NM_005013.4(NUCB2):c.1190A>G (p.Glu397Gly)	NUCB2 (E367G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063197	GRCh37/hg19 11p15.1(chr11:17126882-17579212)x3	ABCC8, KCNJ11 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1527628	GRCh37/hg19 11p15.1(chr11:16820813-18103432)	ABCC8, KCNC1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 687899	GRCh37/hg19 11p15.1(chr11:16775884-18418719)x3	ABCC8, C11orf58 +22 more	Copy number gain	not provided	GUncertain significance
Select item 687796	GRCh37/hg19 11p15.1(chr11:16436272-18064677)x3	ABCC8, C11orf58 +13 more	Copy number gain	not provided	GUncertain significance
Select item 563847	GRCh37/hg19 11p15.1(chr11:17120357-17579212)x3	NUCB2, USH1C +5 more	Copy number gain	not provided	GUncertain significance
Select item 443529	GRCh37/hg19 11p15.1(chr11:17142196-18014467)x3	ABCC8, KCNC1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
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 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	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

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Items: 34