29858[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60137	GRCh38/hg38 17q11.2(chr17:27627733-28118935)x3	LGALS9, LINC01992 +18 more	Copy number gain	See cases	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 3299964	NM_016231.5(NLK):c.20G>C (p.Arg7Thr)	NLK (R7T)	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 2266571	NM_016231.5(NLK):c.84C>G (p.His28Gln)	NLK (H28Q)	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 3200437	NM_016231.5(NLK):c.106C>T (p.Pro36Ser)	NLK (P36S)	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 2389440	NM_016231.5(NLK):c.187C>G (p.Pro63Ala)	NLK (P63A)	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 2378799	NM_016231.5(NLK):c.197A>G (p.Gln66Arg)	NLK (Q66R)	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 3299965	NM_016231.5(NLK):c.226G>A (p.Ala76Thr)	NLK (A76T)	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 3200439	NM_016231.5(NLK):c.412A>G (p.Ile138Val)	NLK (I138V)	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 2347979	NM_016231.5(NLK):c.793A>G (p.Ile265Val)	NLK (I265V)	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 2399610	NM_016231.5(NLK):c.947G>A (p.Arg316His)	NLK (R316H)	Single nucleotide variant (missense variant)	not specified	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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 30