1964[HGNC] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic
Select item 150994	GRCh38/hg38 15q25.1(chr15:78198708-78912913)x3	ACSBG1, ADAMTS7 +35 more	Copy number gain	See cases	GLikely benign
Select item 2431175	NM_000750.5(CHRNB4):c.319_320delinsAT	CHRNB4	Indel (3 prime UTR variant)	Lung adenocarcinoma	GUncertain significance
Select item 1289303	NM_000750.5(CHRNB4):c.*76T>C	CHRNB4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2472874	NM_000750.5(CHRNB4):c.1490G>A (p.Arg497His)	CHRNB4 (R497H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2471474	NM_000750.5(CHRNB4):c.1474C>T (p.Pro492Ser)	CHRNB4 (P492S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461282	NM_000750.5(CHRNB4):c.1457A>G (p.His486Arg)	CHRNB4 (M160V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 762453	NM_000750.5(CHRNB4):c.1443C>A (p.Pro481=)	CHRNB4 (P155H)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3336651	NM_000750.5(CHRNB4):c.1411G>C (p.Val471Leu)	CHRNB4 (V471L)	Single nucleotide variant (missense variant +1 more)	Chronic obstructive pulmonary disease	GPathogenic
Select item 2527275	NM_000750.5(CHRNB4):c.1411G>A (p.Val471Ile)	CHRNB4 (V471I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401180	NM_000750.5(CHRNB4):c.1309C>T (p.His437Tyr)	CHRNB4 (H437Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 873208	NM_000750.5(CHRNB4):c.1304C>T (p.Ala435Val)	CHRNB4 (A435V)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis	GBenign
Select item 2351454	NM_000750.5(CHRNB4):c.1249T>C (p.Ser417Pro)	CHRNB4 (S417P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469416	NM_000750.5(CHRNB4):c.1183G>A (p.Ala395Thr)	CHRNB4 (A395T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289709	NM_000750.5(CHRNB4):c.1177G>A (p.Ala393Thr)	CHRNB4 (A393T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779904	NM_000750.5(CHRNB4):c.1124C>T (p.Thr375Ile)	CHRNB4 (T375I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 718587	NM_000750.5(CHRNB4):c.1068G>A (p.Pro356=)	CHRNB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2645613	NM_000750.5(CHRNB4):c.1045C>T (p.Arg349Cys)	CHRNB4 (R349C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2298036	NM_000750.5(CHRNB4):c.1022T>A (p.Leu341Gln)	CHRNB4 (L341Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 718588	NM_000750.5(CHRNB4):c.969G>A (p.Ser323=)	CHRNB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3267189	NM_000750.5(CHRNB4):c.953A>G (p.Asn318Ser)	CHRNB4 (N318S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144670	NM_000750.5(CHRNB4):c.928A>G (p.Ile310Val)	CHRNB4 (I310V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311659	NM_000750.5(CHRNB4):c.910G>T (p.Val304Leu)	CHRNB4 (V304L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602459	NM_000750.5(CHRNB4):c.898A>G (p.Met300Val)	CHRNB4 (M300V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144669	NM_000750.5(CHRNB4):c.782G>A (p.Gly261Asp)	CHRNB4 (G261D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 714662	NM_000750.5(CHRNB4):c.720C>T (p.Ile240=)	CHRNB4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1344513	NM_000750.5(CHRNB4):c.658G>A (p.Val220Met)	CHRNB4 (V220M)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GLikely pathogenic
Select item 2221053	NM_000750.5(CHRNB4):c.609A>G (p.Ile203Met)	CHRNB4 (I203M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405812	NM_000750.5(CHRNB4):c.593G>A (p.Ser198Asn)	CHRNB4 (S198N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2681722	NM_000750.5(CHRNB4):c.560C>T (p.Thr187Met)	CHRNB4 (T187M)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2469319	NM_000750.5(CHRNB4):c.515G>A (p.Arg172His)	CHRNB4 (R172H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 873209	NM_000750.5(CHRNB4):c.498C>G (p.Asn166Lys)	CHRNB4 (N166K)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis	GBenign
Select item 2588757	NM_000750.5(CHRNB4):c.360C>T (p.Asn120=)	CHRNB4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3144666	NM_000750.5(CHRNB4):c.200G>T (p.Ser67Ile)	CHRNB4 (S67I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1344512	NM_000750.5(CHRNB4):c.178C>T (p.Leu60Phe)	CHRNB4 (L60F)	Single nucleotide variant (missense variant)	Frontotemporal dementia	GLikely pathogenic
Select item 2242243	NM_000750.5(CHRNB4):c.134G>A (p.Arg45His)	CHRNB4 (R45H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226413	NM_000750.5(CHRNB4):c.124A>G (p.Asn42Asp)	CHRNB4 (N42D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790151	NM_000750.5(CHRNB4):c.122A>G (p.Asn41Ser)	CHRNB4 (N41S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 873210	NM_000750.5(CHRNB4):c.116G>T (p.Arg39Leu)	CHRNB4 (R39L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 2480211	NM_000750.5(CHRNB4):c.112A>G (p.Thr38Ala)	CHRNB4 (T38A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225222	NM_000750.5(CHRNB4):c.49G>A (p.Gly17Arg)	CHRNB4 (G17R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144667	NM_000750.5(CHRNB4):c.41C>T (p.Ala14Val)	CHRNB4 (A14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063387	GRCh37/hg19 15q25.1(chr15:78854250-79045089)x3	CHRNA3, CHRNA5 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3063380	GRCh37/hg19 15q25.1(chr15:78854250-79085390)x3	ADAMTS7, CHRNA3 +2 more	Copy number gain	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2425995	NC_000015.9:g.(?_78857986)_(81282132_?)dup	ABHD17C, ADAMTS7 +19 more	Duplication	not provided	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253955	GRCh37/hg19 15q25.1(chr15:78819698-79064139)x3	HYKK, CHRNA3 +4 more	Copy number gain	See cases	GUncertain significance
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 63