ClinVar for Gene (Select 55584) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267181	NM_017581.4(CHRNA9):c.22A>T (p.Ile8Phe)	CHRNA9 (I8F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267180	NM_017581.4(CHRNA9):c.1252T>C (p.Cys418Arg)	CHRNA9 (C418R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267179	NM_017581.4(CHRNA9):c.194C>T (p.Ser65Phe)	CHRNA9 (S65F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144648	NM_017581.4(CHRNA9):c.728A>T (p.Asn243Ile)	CHRNA9 (N243I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144647	NM_017581.4(CHRNA9):c.56G>C (p.Arg19Thr)	CHRNA9 (R19T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144646	NM_017581.4(CHRNA9):c.422G>A (p.Gly141Glu)	CHRNA9 (G141E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144645	NM_017581.4(CHRNA9):c.334G>T (p.Val112Leu)	CHRNA9 (V112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144644	NM_017581.4(CHRNA9):c.301G>A (p.Gly101Ser)	CHRNA9 (G101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144643	NM_017581.4(CHRNA9):c.298G>C (p.Asp100His)	CHRNA9 (D100H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144642	NM_017581.4(CHRNA9):c.23T>C (p.Ile8Thr)	CHRNA9 (I8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144641	NM_017581.4(CHRNA9):c.1190A>G (p.Asn397Ser)	CHRNA9 (N397S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144640	NM_017581.4(CHRNA9):c.1100G>A (p.Arg367Gln)	CHRNA9 (R367Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144639	NM_017581.4(CHRNA9):c.1082C>T (p.Pro361Leu)	CHRNA9 (P361L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2654736	NM_017581.4(CHRNA9):c.675G>A (p.Pro225=)	CHRNA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654735	NM_017581.4(CHRNA9):c.234T>C (p.Thr78=)	CHRNA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2611158	NM_017581.4(CHRNA9):c.1274C>T (p.Thr425Met)	CHRNA9 (T425M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2568745	NM_017581.4(CHRNA9):c.985G>A (p.Glu329Lys)	CHRNA9 (E329K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548755	NM_017581.4(CHRNA9):c.1214G>A (p.Gly405Asp)	CHRNA9 (G405D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512778	NM_017581.4(CHRNA9):c.326G>C (p.Ser109Thr)	CHRNA9 (S109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511645	NM_017581.4(CHRNA9):c.1096G>C (p.Glu366Gln)	CHRNA9 (E366Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506554	GRCh37/hg19 4p14-13(chr4:40337485-41941400)	APBB2, CHRNA9 +6 more	Copy number loss	not provided	GPathogenic
Select item 2487256	NM_017581.4(CHRNA9):c.466G>T (p.Val156Leu)	CHRNA9 (V156L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398253	NM_017581.4(CHRNA9):c.412C>T (p.Arg138Trp)	CHRNA9 (R138W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390540	NM_017581.4(CHRNA9):c.374A>T (p.Asp125Val)	CHRNA9 (D125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383926	NM_017581.4(CHRNA9):c.574G>A (p.Gly192Arg)	CHRNA9 (G192R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379251	NM_017581.4(CHRNA9):c.913G>A (p.Ala305Thr)	CHRNA9 (A305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374973	NM_017581.4(CHRNA9):c.167T>C (p.Leu56Pro)	CHRNA9 (L56P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370961	NM_017581.4(CHRNA9):c.1400T>C (p.Val467Ala)	CHRNA9 (V467A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357801	NM_017581.4(CHRNA9):c.1037C>T (p.Ser346Phe)	CHRNA9 (S346F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356374	NM_017581.4(CHRNA9):c.188C>T (p.Thr63Met)	CHRNA9 (T63M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355197	NM_017581.4(CHRNA9):c.1000C>T (p.Pro334Ser)	CHRNA9 (P334S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345758	NM_017581.4(CHRNA9):c.956T>C (p.Met319Thr)	CHRNA9 (M319T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297126	NM_017581.4(CHRNA9):c.1298A>G (p.Lys433Arg)	CHRNA9 (K433R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289253	NM_017581.4(CHRNA9):c.320T>A (p.Ile107Asn)	CHRNA9 (I107N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276560	NM_017581.4(CHRNA9):c.1416T>G (p.Ile472Met)	CHRNA9 (I472M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224047	NM_017581.4(CHRNA9):c.505T>C (p.Cys169Arg)	CHRNA9 (C169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221872	NM_017581.4(CHRNA9):c.937T>C (p.Ser313Pro)	CHRNA9 (S313P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212373	NM_017581.4(CHRNA9):c.543T>G (p.Asn181Lys)	CHRNA9 (N181K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1411128	NC_000004.11:g.(?_38765721)_(41750627_?)dup	RHOH, TLR6 +22 more	Duplication	Lipoic acid synthetase deficiency	GUncertain significance
Select item 994399	NM_017581.4(CHRNA9):c.413G>A (p.Arg138Gln)	CHRNA9 (R138Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 746873	NM_017581.4(CHRNA9):c.1418T>G (p.Leu473Trp)	CHRNA9 (L473W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 722183	NM_017581.4(CHRNA9):c.99G>C (p.Lys33Asn)	CHRNA9 (K33N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 562907	GRCh37/hg19 4p14(chr4:40203214-40657007)x1	RHOH, RBM47 +1 more	Copy number loss	not provided	GUncertain significance
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Molecular consequence

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Links from Gene

Items: 59