ClinVar for Gene (Select 114926) - ClinVar

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

Links from Gene

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320977	NM_001135674.2(SMIM19):c.67A>T (p.Asn23Tyr)	SMIM19 (N23Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320976	NM_001135674.2(SMIM19):c.173C>A (p.Pro58His)	SMIM19 (P58H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245544	NC_000008.10:g.(?_41518984)_(43054712_?)del	ANK1, AP3M2 +16 more	Deletion	not provided	GPathogenic
Select item 3166567	NM_001135674.2(SMIM19):c.19G>C (p.Val7Leu)	SMIM19 (V14L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063032	GRCh37/hg19 8p11.23-11.1(chr8:37972810-43837099)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063030	GRCh37/hg19 8p11.23-11.1(chr8:37988714-43780050)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063014	GRCh37/hg19 8p11.21(chr8:42274263-42690522)x3	CHRNA6, CHRNB3 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2612579	NM_001135674.2(SMIM19):c.121A>G (p.Met41Val)	SMIM19 (M48V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580355	GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3	NKX6-3, PPDPFL +64 more	Copy number gain	See cases	GPathogenic
Select item 2531054	NM_001135674.2(SMIM19):c.55C>G (p.His19Asp)	SMIM19 (H19D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493671	NM_001135674.2(SMIM19):c.38C>T (p.Ser13Phe)	SMIM19 (S13F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425642	NC_000008.10:g.(?_41518984)_(43054712_?)dup	ANK1, AP3M2 +16 more	Duplication	Torsion dystonia 6	GUncertain significance
Select item 2424198	NC_000008.10:g.(?_41518984)_(42698237_?)dup	ANK1, AP3M2 +11 more	Duplication	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 2409014	NM_001135674.2(SMIM19):c.190T>C (p.Ser64Pro)	SMIM19 (S71P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398500	NM_001135674.2(SMIM19):c.121A>C (p.Met41Leu)	SMIM19 (M41L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346869	NM_001135674.2(SMIM19):c.77C>T (p.Thr26Ile)	SMIM19 (T33I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249558	NM_001135674.2(SMIM19):c.247A>G (p.Met83Val)	SMIM19 (M90V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807741	GRCh37/hg19 8p11.21(chr8:42303398-43002481)x1	CHRNA6, CHRNB3 +8 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527428	GRCh37/hg19 8p11.21-q11.21(chr8:42162574-48757095)	CEBPD, CHRNA6 +17 more	Copy number gain	not specified	GUncertain significance
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 911532	NM_006749.4(SLC20A2):c.-415G>A	LOC130000303, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 911531	NM_006749.4(SLC20A2):c.-411C>T	LOC130000303, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 911530	NM_006749.4(SLC20A2):c.-410C>T	LOC130000303, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 911529	NM_006749.5(SLC20A2):c.-372T>C	SMIM19, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 910319	NM_006749.5(SLC20A2):c.-366T>G	SLC20A2, SMIM19 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 910318	NM_006749.5(SLC20A2):c.-350T>G	LOC130000303, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 910317	NM_006749.5(SLC20A2):c.-279C>T	LOC130000303, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 688131	GRCh37/hg19 8p12-11.1(chr8:36094421-43822214)x3	ADAM18, ADAM2 +54 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	IDO1, IDO2 +78 more	Copy number gain	not provided	GPathogenic
Select item 648521	NC_000008.10:g.(?_42128869)_(43054732_?)dup	CHRNA6, CHRNB3 +12 more	Duplication	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 563508	GRCh37/hg19 8p11.21(chr8:42303397-43002481)x1	FNTA, SMIM19 +8 more	Copy number loss	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 394062	GRCh37/hg19 8p11.21-11.1(chr8:40690198-43388233)x3	ANK1, AP3M2 +23 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ADAM18, ADAM2 +133 more	Copy number gain	See cases	GUncertain significance
Select item 363105	NM_006749.4(SLC20A2):c.-592C>T	SLC20A2, SMIM19	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GBenign
Select item 363104	NM_006749.4(SLC20A2):c.-568C>A	SLC20A2, SMIM19	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 363103	NM_006749.4(SLC20A2):c.-534A>T	SMIM19, SLC20A2	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1 +1 more	GBenign
Select item 363102	NM_006749.4(SLC20A2):c.-457G>T	SLC20A2, SMIM19	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 363101	NM_006749.4(SLC20A2):c.-436C>T	SLC20A2, SMIM19 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 363100	NM_006749.5(SLC20A2):c.-389G>A	SLC20A2, SMIM19 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 363099	NM_006749.5(SLC20A2):c.-305G>A	LOC130000303, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1 +1 more	GBenign
Select item 363098	NM_006749.5(SLC20A2):c.-288G>C	SLC20A2, SMIM19 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 363097	NM_006749.5(SLC20A2):c.-265+5dup	SLC20A2, SMIM19 +1 more	Duplication (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 363096	NM_006749.5(SLC20A2):c.-265+8dup	LOC130000303, SLC20A2 +1 more	Duplication (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 236030	Single allele	CHRNA6, CHRNB3 +6 more	Deletion	Idiopathic basal ganglia calcification 1	GLikely pathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154596	GRCh38/hg38 8p11.21-11.1(chr8:39960531-43673207)x3	LOC130000285, LOC130000286 +122 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 153159	GRCh38/hg38 8p11.21(chr8:42236286-42758909)x1	CHRNA6, CHRNB3 +22 more	Copy number loss	See cases	GLikely pathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 59807	GRCh38/hg38 8p11.21-11.1(chr8:42535063-43541633)x3	CHRNA6, CHRNB3 +34 more	Copy number gain	See cases	GBenign
Select item 59786	GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3	DKK4, FNTA +86 more	Copy number gain	See cases	GPathogenic
Select item 59784	GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3	ANK1, AP3M2 +121 more	Copy number gain	See cases	GPathogenic
Select item 59783	GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3	ADAM2, ANK1 +184 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +419 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	LOC130000135, LOC130000136 +593 more	Copy number gain	See cases	GPathogenic
Select item 57114	GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	ADAM18, ADAM2 +276 more	Copy number loss	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 85