ClinVar for Gene (Select 114926) - ClinVar

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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	LOC130000303, 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	LOC130000303, SLC20A2 +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	SLC20A2, SMIM19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +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, LOC130000303 +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	LOC130000303, SLC20A2 +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	SMIM19, LOC130000303 +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	LOC130000303, SLC20A2 +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	LOC130000303, SLC20A2 +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	SMIM19, LOC130000303 +1 more	Duplication (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 236030	Single allele	HOOK3, RNF170 +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

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Links from Gene

Items: 85