ClinVar for Gene (Select 2339) - ClinVar

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Links from Gene

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245544	NC_000008.10:g.(?_41518984)_(43054712_?)del	ANK1, AP3M2 +16 more	Deletion	not provided	GPathogenic
Select item 3096166	NM_002027.3(FNTA):c.966G>C (p.Met322Ile)	FNTA (M322I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096165	NM_002027.3(FNTA):c.898C>T (p.Leu300Phe)	FNTA (L300F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096163	NM_002027.3(FNTA):c.869C>A (p.Ser290Tyr)	FNTA (S290Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096162	NM_002027.3(FNTA):c.793G>A (p.Glu265Lys)	FNTA (E265K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096161	NM_002027.3(FNTA):c.727G>A (p.Val243Ile)	FNTA (V243I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096160	NM_002027.3(FNTA):c.472A>G (p.Ile158Val)	FNTA (I158V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096159	NM_002027.3(FNTA):c.427T>A (p.Ser143Thr)	FNTA (S143T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096158	NM_002027.3(FNTA):c.41G>A (p.Gly14Asp)	FNTA, LOC130000314 (G14D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096156	NM_002027.3(FNTA):c.403C>T (p.His135Tyr)	FNTA (H135Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096155	NM_002027.3(FNTA):c.351T>G (p.Phe117Leu)	FNTA (F117L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096154	NM_002027.3(FNTA):c.22G>A (p.Gly8Arg)	FNTA, LOC130000314 (G8R)	Single nucleotide variant (missense variant +1 more)	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	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
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 2615680	NM_002027.3(FNTA):c.152T>C (p.Met51Thr)	FNTA, LOC130000314 (M51T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614466	NM_002027.3(FNTA):c.182C>T (p.Pro61Leu)	FNTA, LOC130000314 (P61L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593705	NM_002027.3(FNTA):c.224T>C (p.Ile75Thr)	FNTA (I75T)	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 2549700	NM_002027.3(FNTA):c.329A>G (p.Asp110Gly)	FNTA (D110G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480074	NM_002027.3(FNTA):c.785A>G (p.Tyr262Cys)	FNTA (Y262C)	Single nucleotide variant (missense variant +1 more)	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 2412389	NM_002027.3(FNTA):c.19G>T (p.Val7Phe)	FNTA, LOC130000314 (V7F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307127	NM_002027.3(FNTA):c.654T>G (p.Asn218Lys)	FNTA (N218K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298618	NM_002027.3(FNTA):c.16G>T (p.Gly6Trp)	FNTA, LOC130000314 (G6W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274441	NM_002027.3(FNTA):c.859C>G (p.Arg287Gly)	FNTA (R287G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257520	NM_002027.3(FNTA):c.157G>C (p.Asp53His)	FNTA, LOC130000314 (D53H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255282	NM_002027.3(FNTA):c.575T>C (p.Ile192Thr)	FNTA (I192T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253011	NM_002027.3(FNTA):c.13G>A (p.Glu5Lys)	FNTA, LOC130000314 (E5K)	Single nucleotide variant (missense variant +1 more)	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	ADAM32, ADAM7 +250 more	Complex	See cases	GPathogenic
Select item 1703665	Single allele	ASAH1-AS1, ASH2L +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)	AP3M2, FAM86B1 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 830802	NC_000008.11:g.(?_43083118)_(43304769_?)dup	FNTA, HGSNAT +2 more	Duplication	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 815124	GRCh37/hg19 8p11.21(chr8:42582656-42986488)x3	CHRNA6, FNTA +5 more	Copy number gain	not provided	GUncertain significance
Select item 783524	NM_002027.3(FNTA):c.190G>A (p.Val64Ile)	FNTA, LOC130000314 (V64I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 768238	NM_002027.3(FNTA):c.927C>A (p.Pro309=)	FNTA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	ADAM18, ADAM2 +78 more	Copy number gain	not provided	GPathogenic
Select item 653514	NC_000008.10:g.(?_42693095)_(42978030_?)dup	FNTA, HOOK3 +11 more	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 648521	NC_000008.10:g.(?_42128869)_(43054732_?)dup	POMK, RNF170 +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	KCNQ3, KCNS2 +593 more	Copy number gain	See cases	GPathogenic
Select item 443285	GRCh37/hg19 8p11.21-11.1(chr8:42783678-43824035)x3	FNTA, HGSNAT +3 more	Copy number gain	See cases	GLikely benign
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	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 441655	GRCh37/hg19 8p11.21-11.1(chr8:42745823-43824035)x3	FNTA, HGSNAT +4 more	Copy number gain	See cases	GUncertain significance
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	CLDN23, LONRF1 +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	ALKAL1, ANK1 +133 more	Copy number gain	See cases	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	LOC101929258, LOC101929470 +920 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154596	GRCh38/hg38 8p11.21-11.1(chr8:39960531-43673207)x3	ANK1, AP3M2 +122 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000275, LOC130000276 +927 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	LOC124174256, LOC124174257 +541 more	Copy number gain	See cases	GPathogenic
Select item 150564	GRCh38/hg38 8p11.21-11.1(chr8:43003468-43686841)x3	FNTA, HGSNAT +13 more	Copy number gain	See cases	GBenign
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 149238	GRCh38/hg38 8p11.21-11.1(chr8:43003465-43686843)x3	FNTA, HGSNAT +13 more	Copy number gain	See cases	GLikely benign
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	ADAM18, ADAM2 +935 more	Copy number gain	See cases	GPathogenic
Select item 147299	GRCh38/hg38 8p11.21-11.1(chr8:42900304-43673207)x3	FNTA, HGSNAT +14 more	Copy number gain	See cases	GUncertain significance
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	ADAM18, ADAM2 +927 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000086, LOC130000087 +932 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	ANK1, AP3M2 +86 more	Copy number gain	See cases	GPathogenic
Select item 59784	GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3	LOC130000302, LOC130000303 +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	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000305, LOC130000306 +927 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +417 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	ADAM18, ADAM2 +591 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 +920 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 88