ClinVar for Gene (Select 374383) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341562	NM_001202439.3(NCR3LG1):c.691C>T (p.Arg231Trp)	NCR3LG1 (R231W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3298941	NM_001202439.3(NCR3LG1):c.128A>G (p.Asn43Ser)	NCR3LG1 (N43S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3244729	NC_000011.9:g.(?_17355305)_(17434268_?)del	ABCC8, KCNJ11 +1 more	Deletion	not provided	GPathogenic
Select item 3185404	NM_001202439.3(NCR3LG1):c.574G>A (p.Glu192Lys)	NCR3LG1 (E192K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185399	NM_001202439.3(NCR3LG1):c.529T>C (p.Trp177Arg)	NCR3LG1 (W177R)	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 2606621	NM_001202439.3(NCR3LG1):c.269G>A (p.Arg90Gln)	NCR3LG1 (R90Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605828	NM_001202439.3(NCR3LG1):c.323G>T (p.Arg108Leu)	NCR3LG1 (R108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543417	NM_001202439.3(NCR3LG1):c.289C>A (p.Pro97Thr)	NCR3LG1 (P97T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520720	NM_001202439.3(NCR3LG1):c.181A>G (p.Met61Val)	NCR3LG1 (M61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517241	NM_001202439.3(NCR3LG1):c.581T>A (p.Val194Asp)	NCR3LG1 (V194D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513717	NM_001202439.3(NCR3LG1):c.5C>A (p.Thr2Lys)	NCR3LG1 (T2K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406860	NM_001202439.3(NCR3LG1):c.322C>T (p.Arg108Trp)	NCR3LG1 (R108W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384374	NM_001202439.3(NCR3LG1):c.218A>G (p.Asp73Gly)	NCR3LG1 (D73G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360610	NM_001202439.3(NCR3LG1):c.107A>G (p.Gln36Arg)	NCR3LG1 (Q36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350267	NM_001202439.3(NCR3LG1):c.278C>T (p.Ala93Val)	NCR3LG1 (A93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296519	NM_001202439.3(NCR3LG1):c.240A>C (p.Glu80Asp)	NCR3LG1 (E80D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239184	NM_001202439.3(NCR3LG1):c.805T>A (p.Ser269Thr)	NCR3LG1 (S269T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216357	NM_001202439.3(NCR3LG1):c.148A>G (p.Ile50Val)	NCR3LG1 (I50V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2213141	NM_001202439.3(NCR3LG1):c.835A>T (p.Ile279Phe)	NCR3LG1 (I279F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211644	NM_001202439.3(NCR3LG1):c.517A>G (p.Ile173Val)	NCR3LG1 (I173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204494	NM_001202439.3(NCR3LG1):c.65C>T (p.Thr22Ile)	NCR3LG1 (T22I)	Single nucleotide variant (missense variant)	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
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 38