ClinVar for Gene (Select 51701) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299965	NM_016231.5(NLK):c.226G>A (p.Ala76Thr)	NLK (A76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299964	NM_016231.5(NLK):c.20G>C (p.Arg7Thr)	NLK (R7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200442	NM_016231.5(NLK):c.887A>C (p.His296Pro)	NLK (H296P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200441	NM_016231.5(NLK):c.7C>G (p.Leu3Val)	NLK (L3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200440	NM_016231.5(NLK):c.647A>G (p.Tyr216Cys)	NLK (Y216C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200439	NM_016231.5(NLK):c.412A>G (p.Ile138Val)	NLK (I138V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200438	NM_016231.5(NLK):c.23C>T (p.Ala8Val)	NLK (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200437	NM_016231.5(NLK):c.106C>T (p.Pro36Ser)	NLK (P36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2550547	NM_016231.5(NLK):c.1138C>G (p.Pro380Ala)	NLK (P380A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399610	NM_016231.5(NLK):c.947G>A (p.Arg316His)	NLK (R316H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389442	NM_016231.5(NLK):c.188C>G (p.Pro63Arg)	NLK (P63R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389440	NM_016231.5(NLK):c.187C>G (p.Pro63Ala)	NLK (P63A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389439	NM_016231.5(NLK):c.186C>G (p.His62Gln)	NLK (H62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378799	NM_016231.5(NLK):c.197A>G (p.Gln66Arg)	NLK (Q66R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347979	NM_016231.5(NLK):c.793A>G (p.Ile265Val)	NLK (I265V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340455	NM_016231.5(NLK):c.208T>A (p.Ser70Thr)	NLK (S70T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270093	NM_016231.5(NLK):c.356C>G (p.Ala119Gly)	NLK (A119G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266572	NM_016231.5(NLK):c.85C>A (p.His29Asn)	NLK (H29N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266571	NM_016231.5(NLK):c.84C>G (p.His28Gln)	NLK (H28Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 1341051	GRCh37/hg19 17q11.1-11.2(chr17:25761228-26385329)x3	NOS2, NLK +3 more	Copy number gain	not provided	GUncertain significance
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 253865	GRCh37/hg19 17p11.2-q11.2(chr17:21308559-26655801)x3	MTRNR2L1, TMEM97 +9 more	Copy number gain	See cases	GUncertain significance
Select item 60137	GRCh38/hg38 17q11.2(chr17:27627733-28118935)x3	LGALS9, LINC01992 +18 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 30