ClinVar for Gene (Select 1139) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 393

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267177	NM_000746.6(CHRNA7):c.1037A>G (p.Lys346Arg)	CHRNA7 (K346R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267176	NM_000746.6(CHRNA7):c.9C>G (p.Cys3Trp)	CHRNA7 (C3W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267175	NM_000746.6(CHRNA7):c.1226G>A (p.Arg409His)	CHRNA7 (R409H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242314	GRCh37/hg19 15q13.3(chr15:31950340-32515223)x3	CHRNA7	Copy number gain	not provided	GUncertain significance
Select item 3242303	GRCh37/hg19 15q13.2-13.3(chr15:30935396-32444881)x3	CHRNA7, FAN1 +5 more	Copy number gain	not provided	GPathogenic
Select item 3148920	GRCh37/hg19 15q13.3-14(chr15:31677578-34254499)x3	ARHGAP11A, AVEN +7 more	Copy number gain	not provided	GUncertain significance
Select item 3148866	GRCh37/hg19 15q13.3(chr15:32011459-32444043)x3	CHRNA7	Copy number gain	not provided	GUncertain significance
Select item 3148844	GRCh37/hg19 15q13.3(chr15:32003538-32444043)x3	CHRNA7	Copy number gain	See cases	GUncertain significance
Select item 3144638	NM_000746.6(CHRNA7):c.1345T>C (p.Cys449Arg)	CHRNA7 (C478R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144636	NM_000746.6(CHRNA7):c.1337G>A (p.Arg446His)	CHRNA7 (R446H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144635	NM_000746.6(CHRNA7):c.1205A>G (p.Asp402Gly)	CHRNA7 (D402G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3068903	NC_000015.9:g.(32404101_32446107)_(32465220_?)del	CHRNA7	Deletion	not specified	GUncertain significance
Select item 3063391	GRCh37/hg19 15q11.2-13.3(chr15:23748021-32444261)x1	APBA2, ARHGAP11B +37 more	Copy number loss	not specified	GPathogenic
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063373	GRCh37/hg19 15q13.3(chr15:32377979-32428067)x1	CHRNA7	Copy number loss	not specified	GUncertain significance
Select item 3063358	GRCh37/hg19 15q13.2-13.3(chr15:30913573-32914239)x1	ARHGAP11A, ARHGAP11B +9 more	Copy number loss	not specified	GPathogenic
Select item 3063348	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32446830)x3	APBA2, ARHGAP11B +42 more	Copy number gain	not specified	GPathogenic
Select item 3062003	GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118)	APBA2, ARHGAP11B +227 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3032623	NM_000746.6(CHRNA7):c.55+35G>T	CHRNA7	Single nucleotide variant (synonymous variant +1 more)	CHRNA7-related disorder	GLikely benign
Select item 3025730	NM_000746.6(CHRNA7):c.1120G>A (p.Val374Met)	CHRNA7 (V374M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3024590	GRCh37/hg19 15q13.2-13.3(chr15:30896376-32465219)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	not provided	GPathogenic
Select item 3024589	GRCh37/hg19 15q13.2-13.3(chr15:30844281-32404100)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	not provided	GPathogenic
Select item 2690935	GRCh37/hg19 15q13.2-13.3(chr15:30730511-32914199)x3	ARHGAP11A, ARHGAP11B +11 more	Copy number gain	See cases	GUncertain significance
Select item 2685506	GRCh37/hg19 15q13.3(chr15:32293287-32446830)x1	CHRNA7	Copy number loss	not provided	GUncertain significance
Select item 2685505	GRCh37/hg19 15q13.3(chr15:31223642-32446830)x1	CHRNA7, FAN1 +5 more	Copy number loss	not provided	GPathogenic
Select item 2684752	GRCh37/hg19 15q13.2-13.3(chr15:30913574-32444196)x3	ARHGAP11B, CHRNA7 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684749	GRCh37/hg19 15q11.2-13.3(chr15:22770422-32915593)x3	APBA2, ARHGAP11A +45 more	Copy number gain	not provided	GPathogenic
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2672247	NM_000746.6(CHRNA7):c.992C>T (p.Thr331Ile)	CHRNA7 (T331I +1 more)	Single nucleotide variant (missense variant +1 more)	Chromosome 15q13.3 microdeletion syndrome	GUncertain significance
Select item 2671594	Single allele	APBA2, ARHGAP11B +42 more	Duplication	not provided	GPathogenic
Select item 2645116	NM_000746.6(CHRNA7):c.1119C>T (p.Ala373=)	CHRNA7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2645115	NM_000746.6(CHRNA7):c.635G>A (p.Cys212Tyr)	CHRNA7 (C212Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2627559	GRCh37/hg19 15q13.2-13.3(chr15:30653877-32914199)x3	MIR211, MTMR10 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2582942	GRCh37/hg19 15q13.2-13.3(chr15:30850147-32404100)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	not provided	GPathogenic
Select item 2581681	NC_000015.9:g.(32404101_32446107)_(32462385_?)dup	CHRNA7	Duplication	not specified	GUncertain significance
Select item 2580334	GRCh37/hg19 15q13.2-13.3(chr15:30854238-32892694)x1	ARHGAP11B, CHRNA7 +9 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2580323	GRCh37/hg19 15q13.2-13.3(chr15:30897996-32442006)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2580311	GRCh37/hg19 15q13.2-13.3(chr15:30850097-32693726)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	See cases	GPathogenic
Select item 2580303	GRCh37/hg19 15q13.2-13.3(chr15:30918974-32442006)x1	MIR211, ARHGAP11B +6 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2580300	GRCh37/hg19 15q13.2-13.3(chr15:30805785-32686484)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2574687	GRCh37/hg19 15q13.2-13.3(chr15:31073735-32446830)	CHRNA7, FAN1 +5 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2542657	NM_000746.6(CHRNA7):c.179T>C (p.Leu60Pro)	CHRNA7 (L89P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2499650	GRCh38/hg38 15q13.2-13.3(chr15:30866083-32146743)	CHRNA7, FAN1 +21 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2491375	NM_000746.6(CHRNA7):c.490T>C (p.Cys164Arg)	CHRNA7 (C164R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2446467	GRCh37/hg19 15q13.2-13.3(chr15:30921917-32514980)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2425861	NC_000015.9:g.(?_31196867)_(34112028_?)dup	ARHGAP11A, CHRNA7 +11 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 2425859	NC_000015.9:g.(?_32393486)_(34030811_?)dup	RYR3, ARHGAP11A +5 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 2423388	NC_000015.9:g.(?_30906349)_(32446187_?)del	ARHGAP11B, CHRNA7 +7 more	Deletion	not provided	GPathogenic
Select item 2423387	NC_000015.9:g.(?_32322798)_(32404100_?)del	CHRNA7	Deletion	not provided	GPathogenic
Select item 2423386	NC_000015.9:g.(?_32449809)_(32449976_?)del	CHRNA7	Deletion	not provided	GUncertain significance
Select item 2409789	NM_000746.6(CHRNA7):c.1117G>C (p.Ala373Pro)	CHRNA7 (A373P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400526	NM_000746.6(CHRNA7):c.302G>A (p.Arg101His)	CHRNA7 (R130H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391473	NM_000746.6(CHRNA7):c.312T>A (p.Asp104Glu)	CHRNA7 (D133E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372966	NM_000746.6(CHRNA7):c.1343G>A (p.Arg448His)	CHRNA7 (R448H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365545	NM_000746.6(CHRNA7):c.723T>G (p.Cys241Trp)	CHRNA7 (C241W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354435	NM_000746.6(CHRNA7):c.1088G>A (p.Arg363His)	CHRNA7 (R363H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353621	NM_000746.6(CHRNA7):c.1270G>C (p.Gly424Arg)	CHRNA7 (G424R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350673	NM_000746.6(CHRNA7):c.1301C>T (p.Ala434Val)	CHRNA7 (A434V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344563	NM_000746.6(CHRNA7):c.1235G>C (p.Cys412Ser)	CHRNA7 (C412S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317083	NM_000746.6(CHRNA7):c.1159A>C (p.Ile387Leu)	CHRNA7 (I387L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285641	NM_000746.6(CHRNA7):c.1487C>G (p.Ala496Gly)	CHRNA7 (A525G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283169	NM_000746.6(CHRNA7):c.26G>T (p.Trp9Leu)	CHRNA7 (W9L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277116	NM_000746.6(CHRNA7):c.1183G>A (p.Val395Met)	CHRNA7 (V395M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2274384	NM_000746.6(CHRNA7):c.260T>C (p.Leu87Ser)	CHRNA7 (L116S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228627	NM_000746.6(CHRNA7):c.1141A>G (p.Asn381Asp)	CHRNA7 (N410D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2207751	NM_000746.6(CHRNA7):c.1336C>T (p.Arg446Cys)	CHRNA7 (R475C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2196382	NM_000746.6(CHRNA7):c.3G>A (p.Met1Ile)	CHRNA7 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1808704	GRCh37/hg19 15q13.1-13.3(chr15:28540415-32446830)x1	APBA2, ARHGAP11B +15 more	Copy number loss	not provided	GPathogenic
Select item 1808694	GRCh37/hg19 15q13.3(chr15:32003538-32446830)x1	CHRNA7	Copy number loss	not provided	GPathogenic
Select item 1808682	GRCh37/hg19 15q13.2-13.3(chr15:30913574-32446830)x1	ARHGAP11B, CHRNA7 +6 more	Copy number loss	not provided	GPathogenic
Select item 1808319	GRCh37/hg19 15q13.2-13.3(chr15:31073669-32915593)x3	ARHGAP11A, CHRNA7 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1807850	GRCh37/hg19 15q13.2-13.3(chr15:30370018-32446830)x1	ARHGAP11B, CHRFAM7A +9 more	Copy number loss	not provided	GPathogenic
Select item 1807711	GRCh37/hg19 15q13.3(chr15:32011476-32446830)x1	CHRNA7	Copy number loss	not provided	GPathogenic
Select item 1807239	Single allele	CHRNA7	Duplication	not provided	GUncertain significance
Select item 1711871	GRCh37/hg19 15q13.2-13.3(chr15:31098690-32444044)x1	CHRNA7, FAN1 +5 more	Copy number loss	See cases	GPathogenic
Select item 1711395	GRCh37/hg19 15q13.2-13.3(chr15:30898046-32691186)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	not provided	GPathogenic
Select item 1711394	GRCh37/hg19 15q13.2-13.3(chr15:30696635-32783786)x3	ARHGAP11B, CHRNA7 +8 more	Copy number gain	not provided	GPathogenic
Select item 1710519	GRCh37/hg19 15q13.3(chr15:31955021-32444857)x1	CHRNA7	Copy number loss	not provided	GPathogenic
Select item 1707424	GRCh37/hg19 15q11.2-13.3(chr15:30370019-30374368)	APBA2, ARHGAP11B +42 more	Copy number gain	See cases	GPathogenic
Select item 1707251	NM_000746.6(CHRNA7):c.241-58A>G	CHRNA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1705943	GRCh37/hg19 15q13.2-13.3(chr15:31073735-32444044)x1	CHRNA7, FAN1 +5 more	Copy number loss	FETAL DEMISE	GPathogenic
Select item 1703980	NM_000746.6(CHRNA7):c.59C>T (p.Ser20Phe)	CHRNA7 (S20F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1703689	Single allele	APBA2, ARHGAP11B +42 more	Complex	Distal tetrasomy 15q	GPathogenic
Select item 1703668	GRCh37/hg19 15q13.2-13.3(chr15:31098690-32914240)	ARHGAP11A, CHRNA7 +8 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 1703658	GRCh37/hg19 15q13.2-13.3(chr15:31073668-32446830)	CHRNA7, FAN1 +5 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 1703648	GRCh37/hg19 15q13.2-13.3(chr15:31088442-32446830)	CHRNA7, FAN1 +5 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 1703232	Single allele	LOC129390680, LOC130056726 +25 more	Deletion	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 1701266	GRCh37/hg19 15q13.2-13.3(chr15:30899058-32446187)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	not provided	GPathogenic
Select item 1684563	GRCh37/hg19 15q13.1-13.3(chr15:28780392-32784132)x1	APBA2, ARHGAP11B +15 more	Copy number loss	See cases	GPathogenic
Select item 1684562	GRCh37/hg19 15q13.2-13.3(chr15:30783603-32914393)x1	ARHGAP11A, ARHGAP11B +10 more	Copy number loss	See cases	GPathogenic
Select item 1684560	GRCh37/hg19 15q13.2-13.3(chr15:30819465-32509926)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	See cases	GPathogenic
Select item 1410613	NC_000015.9:g.(?_31196867)_(32404120_?)dup	CHRNA7, FAN1 +5 more	Duplication	not provided	GUncertain significance
Select item 1341875	NC_000015.10:g.31722025_32224686dup	CHRNA7, LOC125078053 +3 more	Duplication	15q11q13 microduplication syndrome	GUncertain significance
Select item 1340668	GRCh37/hg19 15q13.2-13.3(chr15:31073669-32436521)x3	CHRNA7, FAN1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1340490	GRCh37/hg19 15q13.2-13.3(chr15:30386398-32444113)x3	MTMR10, OTUD7A +8 more	Copy number gain	not provided	GUncertain significance
Select item 1330374	GRCh37/hg19 15q13.3(chr15:32003537-32444069)x3	CHRNA7	Copy number gain	not provided	Gnot provided
Select item 1330163	GRCh37/hg19 15q13.2-13.3(chr15:30897996-32404614)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 1328465	GRCh37/hg19 15q13.2-13.3(chr15:30935361-32444840)x3	CHRNA7, FAN1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1301587	NM_000746.6(CHRNA7):c.1405C>T (p.Arg469Cys)	CHRNA7 (R469C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GConflicting classifications of pathogenicity

<< First< Prev

Page of 4