ClinVar for Gene (Select 1142) - ClinVar

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Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267188	NM_000749.5(CHRNB3):c.469G>A (p.Val157Ile)	CHRNB3 (V83I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267187	NM_000749.5(CHRNB3):c.398T>A (p.Val133Asp)	CHRNB3 (V59D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267186	NM_000749.5(CHRNB3):c.499T>C (p.Cys167Arg)	CHRNB3 (C167R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267185	NM_000749.5(CHRNB3):c.674A>G (p.Tyr225Cys)	CHRNB3 (Y225C +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 3144664	NM_000749.5(CHRNB3):c.907A>G (p.Ile303Val)	CHRNB3 (I303V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144663	NM_000749.5(CHRNB3):c.811G>A (p.Val271Ile)	CHRNB3 (V197I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144662	NM_000749.5(CHRNB3):c.734T>C (p.Leu245Pro)	CHRNB3 (L245P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144661	NM_000749.5(CHRNB3):c.655T>G (p.Ser219Ala)	CHRNB3 (S145A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144660	NM_000749.5(CHRNB3):c.616G>A (p.Ala206Thr)	CHRNB3 (A132T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144659	NM_000749.5(CHRNB3):c.416G>A (p.Gly139Glu)	CHRNB3 (G65E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144658	NM_000749.5(CHRNB3):c.202G>A (p.Val68Met)	CHRNB3 (V68M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144657	NM_000749.5(CHRNB3):c.1146T>A (p.Ser382Arg)	CHRNB3 (S382R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144656	NM_000749.5(CHRNB3):c.1126A>C (p.Lys376Gln)	CHRNB3 (K376Q +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 2658586	NM_000749.5(CHRNB3):c.477T>G (p.Phe159Leu)	CHRNB3 (F159L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2606738	NM_000749.5(CHRNB3):c.655T>C (p.Ser219Pro)	CHRNB3 (S219P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604935	NM_000749.5(CHRNB3):c.134G>T (p.Arg45Leu)	CHRNB3 (R45L)	Single nucleotide variant (missense variant +1 more)	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 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 2409781	NM_000749.5(CHRNB3):c.1072T>C (p.Ser358Pro)	CHRNB3 (S358P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361616	NM_000749.5(CHRNB3):c.422T>C (p.Val141Ala)	CHRNB3 (V141A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328010	NM_000749.5(CHRNB3):c.390G>A (p.Met130Ile)	CHRNB3 (M130I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311047	NM_000749.5(CHRNB3):c.637A>G (p.Arg213Gly)	CHRNB3 (R213G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300617	NM_000749.5(CHRNB3):c.92C>A (p.Ala31Asp)	CHRNB3 (A31D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284402	NM_000749.5(CHRNB3):c.169T>C (p.Tyr57His)	CHRNB3 (Y57H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282617	NM_000749.5(CHRNB3):c.313G>A (p.Val105Ile)	CHRNB3 (V105I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264711	NM_000749.5(CHRNB3):c.53C>T (p.Ala18Val)	CHRNB3 (A18V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256444	NM_000749.5(CHRNB3):c.1364A>G (p.His455Arg)	CHRNB3 (H381R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2256251	NM_000749.5(CHRNB3):c.702A>C (p.Leu234Phe)	CHRNB3 (L160F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250083	NM_000749.5(CHRNB3):c.1186G>T (p.Ala396Ser)	CHRNB3 (A322S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211181	NM_000749.5(CHRNB3):c.1124A>G (p.Lys375Arg)	CHRNB3 (K301R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209793	NM_000749.5(CHRNB3):c.767A>C (p.Tyr256Ser)	CHRNB3 (Y182S +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 815124	GRCh37/hg19 8p11.21(chr8:42582656-42986488)x3	CHRNA6, FNTA +5 more	Copy number gain	not provided	GUncertain significance
Select item 788867	NM_000749.5(CHRNB3):c.75C>T (p.Ile25=)	CHRNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 712805	NM_000749.5(CHRNB3):c.1351A>G (p.Lys451Glu)	CHRNB3 (K451E +1 more)	Single nucleotide variant (missense variant)	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	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 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: 90