5002[geneid] - ClinVar

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Items: 74

	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 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	LOC106783508, LOC106799843 +271 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 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 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 154397	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	KRTAP5-6, KRTAP5-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	ASCL2, C11orf21 +115 more	Copy number gain	See cases	GPathogenic
Select item 147964	GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1	ASCL2, C11orf21 +83 more	Copy number loss	See cases	GUncertain significance
Select item 768417	NM_002555.6(SLC22A18):c.-133+232A>G	SLC22A18, SLC22A18AS (M1V)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GBenign
Select item 2289224	NM_002555.6(SLC22A18):c.31G>A (p.Gly11Ser)	SLC22A18AS, SLC22A18 (G96S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493468	NM_002555.6(SLC22A18):c.51G>A (p.Met17Ile)	SLC22A18, SLC22A18AS (M17I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789206	NM_002555.6(SLC22A18):c.65G>A (p.Arg22Gln)	SLC22A18, SLC22A18AS (R22Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2516534	NM_002555.6(SLC22A18):c.155G>A (p.Arg52Gln)	SLC22A18 (R137Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492384	NM_002555.6(SLC22A18):c.161T>C (p.Leu54Pro)	SLC22A18 (L139P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 6977	NM_002555.6(SLC22A18):c.257G>A (p.Arg86His)	SLC22A18 (R86H +1 more)	Single nucleotide variant (missense variant +1 more)	SLC22A18-related condition	GBenign
Select item 2320234	NM_002555.6(SLC22A18):c.266G>C (p.Arg89Pro)	SLC22A18 (R174P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253861	NM_002555.6(SLC22A18):c.271G>T (p.Ala91Ser)	SLC22A18 (A176S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616753	NM_002555.6(SLC22A18):c.295G>A (p.Ala99Thr)	SLC22A18 (A184T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485796	NM_002555.6(SLC22A18):c.304C>G (p.Leu102Val)	SLC22A18 (L102V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209635	NM_002555.6(SLC22A18):c.391C>T (p.His131Tyr)	SLC22A18 (H131Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 768418	NM_002555.6(SLC22A18):c.403+14del	SLC22A18	Deletion (intron variant)	not provided	GBenign
Select item 2365696	NM_002555.6(SLC22A18):c.414G>A (p.Met138Ile)	SLC22A18 (M223I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403440	NM_002555.6(SLC22A18):c.425A>G (p.Asp142Gly)	SLC22A18 (D142G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2641509	NM_002555.6(SLC22A18):c.453G>C (p.Ala151=)	SLC22A18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2224619	NM_002555.6(SLC22A18):c.464G>A (p.Arg155Gln)	SLC22A18 (R155Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363143	NM_002555.6(SLC22A18):c.481G>C (p.Gly161Arg)	SLC22A18 (G246R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3050688	NM_002555.6(SLC22A18):c.531del (p.Tyr178fs)	SLC22A18 (Y178fs +1 more)	Deletion (frameshift variant +1 more)	SLC22A18-related condition	GBenign
Select item 2213095	NM_002555.6(SLC22A18):c.560C>T (p.Ala187Val)	SLC22A18 (A89V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217767	NM_002555.6(SLC22A18):c.604A>G (p.Ile202Val)	SLC22A18 (I287V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049607	NM_002555.6(SLC22A18):c.610G>A (p.Ala204Thr)	SLC22A18 (A106T +2 more)	Single nucleotide variant (missense variant)	SLC22A18-related condition	GLikely benign
Select item 2325640	NM_002555.6(SLC22A18):c.637G>A (p.Ala213Thr)	SLC22A18 (A298T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2556324	NM_002555.6(SLC22A18):c.646C>G (p.Pro216Ala)	SLC22A18 (P118A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2539837	NM_002555.6(SLC22A18):c.674T>G (p.Val225Gly)	SLC22A18 (V225G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225742	NM_002555.6(SLC22A18):c.694G>A (p.Ala232Thr)	SLC22A18 (A134T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 6978	NM_002555.6(SLC22A18):c.698C>T (p.Ser233Phe)	SLC22A18 (S233F +2 more)	Single nucleotide variant (missense variant)	Lung carcinoma	GPathogenic
Select item 2480314	NM_002555.6(SLC22A18):c.704T>C (p.Leu235Pro)	SLC22A18 (L137P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403456	NM_002555.6(SLC22A18):c.718G>T (p.Val240Phe)	SLC22A18 (V325F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542309	NM_002555.6(SLC22A18):c.800A>T (p.Asp267Val)	SLC22A18 (D169V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295831	NM_002555.6(SLC22A18):c.812T>C (p.Leu271Pro)	SLC22A18 (L173P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2431143	NM_002555.6(SLC22A18):c.865-1046C>T	SLC22A18	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2470197	NM_002555.6(SLC22A18):c.932G>C (p.Ser311Thr)	SLC22A18 (S213T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623109	NM_002555.6(SLC22A18):c.952G>T (p.Val318Leu)	SLC22A18 (V318L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 723530	NM_002555.6(SLC22A18):c.982G>A (p.Val328Ile)	SLC22A18 (V230I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 711043	NM_002555.6(SLC22A18):c.1072T>C (p.Ser358Pro)	SLC22A18 (S260P +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2557427	NM_002555.6(SLC22A18):c.1147G>A (p.Val383Ile)	SLC22A18 (V285I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1206297	NM_002555.6(SLC22A18):c.1183G>A (p.Val395Ile)	SLC22A18 (V297I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 711044	NM_002555.6(SLC22A18):c.1194C>T (p.His398=)	SLC22A18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711045	NM_002555.6(SLC22A18):c.1195G>T (p.Val399Leu)	SLC22A18 (V484L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2477432	NM_002555.6(SLC22A18):c.1250C>T (p.Pro417Leu)	SLC22A18 (P502L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785335	NM_002555.6(SLC22A18):c.1254G>A (p.Gln418=)	SLC22A18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2604689	NM_002555.6(SLC22A18):c.1261G>A (p.Asp421Asn)	SLC22A18 (D323N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	ANO9, AP2A2 +89 more	Copy number gain	not provided	GPathogenic
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 815398	GRCh37/hg19 11p15.5-15.4(chr11:2683937-3207439)x3	CARS1, CDKN1C +8 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 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 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 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 6976	NM_002555.6(SLC22A18):c.864_865ins[NC_000011.10:g.2919738_2919848]	SLC22A18	Insertion	Breast adenocarcinoma	GPathogenic

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Items: 74