CHRNA10[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC106799843, LOC106865369 +388 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	ANO9, AP2A2 +332 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	A-GAMMA3'E, ABCC8 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 2238533	NM_020402.4(CHRNA10):c.1229G>A (p.Arg410Gln)	CHRNA10 (R204Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295930	NM_020402.4(CHRNA10):c.1220G>A (p.Arg407His)	CHRNA10 (R407H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2380406	NM_020402.4(CHRNA10):c.1129G>A (p.Gly377Ser)	CHRNA10 (G377S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300571	NM_020402.4(CHRNA10):c.1036C>T (p.Arg346Trp)	CHRNA10 (R140W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303970	NM_020402.4(CHRNA10):c.1030C>G (p.Leu344Val)	CHRNA10 (L138V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613658	NM_020402.4(CHRNA10):c.926T>G (p.Val309Gly)	CHRNA10 (V309G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242242	NM_020402.4(CHRNA10):c.911C>T (p.Ala304Val)	CHRNA10 (A304V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512077	NM_020402.4(CHRNA10):c.887C>T (p.Pro296Leu)	CHRNA10 (P90L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250916	NM_020402.4(CHRNA10):c.884T>C (p.Val295Ala)	CHRNA10 (V295A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381031	NM_020402.4(CHRNA10):c.776A>T (p.His259Leu)	CHRNA10 (H53L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475381	NM_020402.4(CHRNA10):c.704G>T (p.Arg235Leu)	CHRNA10 (R235L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400930	NM_020402.4(CHRNA10):c.661G>A (p.Glu221Lys)	CHRNA10 (E221K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277884	NM_020402.4(CHRNA10):c.601G>A (p.Glu201Lys)	CHRNA10 (E201K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292597	NM_020402.4(CHRNA10):c.588C>G (p.Phe196Leu)	CHRNA10 (F196L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297788	NM_020402.4(CHRNA10):c.557C>T (p.Pro186Leu)	CHRNA10 (P186L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397495	NM_020402.4(CHRNA10):c.554G>A (p.Arg185Gln)	CHRNA10 (R185Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264907	NM_020402.4(CHRNA10):c.532G>C (p.Gly178Arg)	CHRNA10 (G178R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266671	NM_020402.4(CHRNA10):c.517G>A (p.Gly173Ser)	CHRNA10 (G173S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324917	NM_020402.4(CHRNA10):c.469G>T (p.Asp157Tyr)	CHRNA10 (D157Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307919	NM_020402.4(CHRNA10):c.463C>T (p.Arg155Cys)	CHRNA10 (R155C)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495222	NM_020402.4(CHRNA10):c.430T>C (p.Trp144Arg)	CHRNA10 (W144R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299210	NM_020402.4(CHRNA10):c.407T>G (p.Leu136Arg)	CHRNA10 (L136R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591414	NM_020402.4(CHRNA10):c.363A>G (p.Lys121=)	CHRNA10	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2461358	NM_020402.4(CHRNA10):c.355T>C (p.Tyr119His)	CHRNA10 (Y119H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363131	NM_020402.4(CHRNA10):c.214C>T (p.Arg72Trp)	CHRNA10 (R72W)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216098	NM_020402.4(CHRNA10):c.113T>C (p.Phe38Ser)	CHRNA10 (F38S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2366826	NM_020402.4(CHRNA10):c.103C>T (p.Arg35Cys)	CHRNA10 (R35C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2425075	NC_000011.9:g.(?_721044)_(3988932_?)dup	AP2A2, ART1 +65 more	Duplication	not provided	GUncertain significance
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	OR10A6, RRM1 +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ABCC8, ADM +308 more	Copy number gain	See cases	GPathogenic
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	ANO9, AP2A2 +137 more	Copy number gain	not provided	Gnot provided
Select item 1017523	NC_000011.9:g.(?_298501)_(4113028_?)dup	PTDSS2, RASSF7 +89 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 983191	GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	ANO9, AP2A2 +109 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	IFITM3, OR52D1 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815399	GRCh37/hg19 11p15.4(chr11:3667691-4039971)x3	STIM1, NUP98 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	ABCC8, ADM +343 more	Copy number gain	not provided	GPathogenic
Select item 806761	GRCh37/hg19 11p15.4(chr11:3659968-3746449)x3	ART1, ART5 +2 more	Copy number gain	not provided	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	OR2AG2, OR2D2 +222 more	Copy number gain	not provided	GPathogenic
Select item 560089	Single allele	PGAP2, RHOG +3 more	Duplication	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441732	GRCh37/hg19 11p15.4(chr11:3629582-4677492)x3	ART1, ART5 +17 more	Copy number gain	See cases	GLikely benign
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ABCC8, ABTB2 +364 more	Copy number gain	See cases	GPathogenic
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	ART1, ART5 +132 more	Copy number gain	See cases	GPathogenic
Select item 253765	GRCh37/hg19 11p15.4(chr11:3629393-4111738)x3	NUP98, STIM1 +5 more	Copy number gain	See cases	GUncertain significance

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Items: 55