55687[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 853

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	LOC130067605, LOC130067606 +303 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 147622	GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	A4GALT, ALG12 +428 more	Copy number loss	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 more	Copy number gain	See cases	GPathogenic
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC126863187, LOC126863188 +495 more	Copy number gain	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	CIMAP1B, CPT1B +492 more	Copy number gain	See cases	GPathogenic
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	LOC130067640, LOC130067641 +483 more	Copy number loss	See cases	GPathogenic
Select item 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	GPathogenic
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 152340	GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1	ACR, ADM2 +451 more	Copy number loss	See cases	GPathogenic
Select item 976870	NC_000022.11:g.43802117_50806121del	DENND6B, EFCAB6 +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57670	GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1	ACR, ADM2 +441 more	Copy number loss	See cases	GPathogenic
Select item 146121	GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1	ACR, ADM2 +434 more	Copy number loss	See cases	GPathogenic
Select item 146895	GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3	ADM2, ALG12 +428 more	Copy number gain	See cases	GBenign
Select item 976875	NC_000022.11:g.44245760_50806121del	LOC121627953, LOC121627954 +411 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 144383	GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1	ACR, ADM2 +401 more	Copy number loss	See cases	GPathogenic
Select item 976876	NC_000022.11:g.44702479_50806138del	CPT1B, CRELD2 +401 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57672	GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147743	GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147377	GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3	ACR, ADM2 +396 more	Copy number gain	See cases	GPathogenic
Select item 57947	GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3	LOC130067697, LOC130067698 +396 more	Copy number gain	See cases	GPathogenic
Select item 155419	GRCh38/hg38 22q13.31(chr22:44832749-46353315)x3	ARHGAP8, ATXN10 +105 more	Copy number gain	See cases	GUncertain significance
Select item 57264	GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1	ACR, ADM2 +371 more	Copy number loss	See cases	GPathogenic
Select item 149163	GRCh38/hg38 22q13.31(chr22:45445795-47832195)x1	LOC126863174, LOC126863175 +129 more	Copy number loss	See cases	GUncertain significance
Select item 57673	GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1	ACR, ADM2 +343 more	Copy number loss	See cases	GPathogenic
Select item 976865	NC_000022.11:g.45708330_50737364del	TRABD, TRABD-AS1 +338 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976872	NC_000022.11:g.45819932_50737806del	ADM2, ALG12 +333 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 59094	GRCh38/hg38 22q13.31(chr22:45954698-47245325)x3	CDPF1, CELSR1 +99 more	Copy number gain	See cases	GUncertain significance
Select item 57398	GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1	ACR, ADM2 +315 more	Copy number loss	See cases	GPathogenic
Select item 161059	GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3	CDPF1, CELSR1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 35217	GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3	CDPF1, CELSR1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 976864	NC_000022.11:g.46269281_50740560del	ACR, ADM2 +295 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 155500	GRCh38/hg38 22q13.31(chr22:46271847-46482065)x1	CELSR1, GTSE1 +13 more	Copy number loss	See cases	GUncertain significance
Select item 59095	GRCh38/hg38 22q13.31(chr22:46281772-48028340)x3	CELSR1, CERK +75 more	Copy number gain	See cases	GUncertain significance
Select item 1238890	NC_000022.11:g.46335127C>G	TRMU	Single nucleotide variant	not provided	GBenign
Select item 1191906	NC_000022.11:g.46335132C>A	TRMU	Single nucleotide variant	not provided	GLikely benign
Select item 1272443	NC_000022.11:g.46335201del	TRMU	Deletion	not provided	GBenign
Select item 1227604	NC_000022.11:g.46335294T>C	TRMU	Single nucleotide variant	not provided	GBenign
Select item 2437335	NM_018006.5(TRMU):c.-454_-452del	TRMU	Microsatellite	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 341990	NM_018006.4(TRMU):c.-312G>A	TRMU	Single nucleotide variant	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 341991	NM_018006.4(TRMU):c.-281G>A	TRMU	Single nucleotide variant	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GUncertain significance
Select item 341992	NM_018006.4(TRMU):c.-279G>A	TRMU	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 341993	NM_018006.4(TRMU):c.-190A>T	TRMU	Single nucleotide variant	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 341994	NM_018006.4(TRMU):c.-178G>A	TRMU	Single nucleotide variant	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GBenign/Likely benign
Select item 341995	NM_018006.4(TRMU):c.-161A>C	TRMU	Single nucleotide variant	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 341996	NM_018006.4(TRMU):c.-151G>A	TRMU	Single nucleotide variant	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 341997	NM_018006.5(TRMU):c.-147C>A	TRMU	Single nucleotide variant	Aminoglycoside-induced deafness +2 more	GUncertain significance
Select item 341998	NM_018006.4(TRMU):c.-128A>G	TRMU	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 341999	NM_018006.4(TRMU):c.-117G>C	TRMU	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 342000	NM_018006.4(TRMU):c.-113G>C	TRMU	Single nucleotide variant	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 342001	NM_018006.4(TRMU):c.-87T>C	TRMU	Single nucleotide variant	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GConflicting classifications of pathogenicity
Select item 3031221	NM_018006.5(TRMU):c.-51A>C	TRMU	Single nucleotide variant (5 prime UTR variant +1 more)	TRMU-related disorder	GLikely benign
Select item 342002	NM_018006.5(TRMU):c.-44G>A	TRMU	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 384230	NM_018006.5(TRMU):c.-36C>G	TRMU	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 342003	NM_018006.5(TRMU):c.-35G>A	TRMU	Single nucleotide variant (5 prime UTR variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 678704	NM_018006.5(TRMU):c.-26A>C	TRMU	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 680919	NM_018006.5(TRMU):c.-25G>A	TRMU	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 342004	NM_018006.5(TRMU):c.-19G>C	TRMU	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 342005	NM_018006.5(TRMU):c.-15T>C	TRMU	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 596833	NM_018006.5(TRMU):c.-9G>A	TRMU	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2679292	NM_018006.5(TRMU):c.5_27dup (p.Ala10fs)	TRMU (A10fs)	Duplication (frameshift variant +3 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 280795	NM_018006.5(TRMU):c.2T>C (p.Met1Thr)	TRMU (M1T)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GPathogenic/Likely pathogenic
Select item 215292	NM_018006.5(TRMU):c.2T>G (p.Met1Arg)	TRMU (M1R)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1294	NM_018006.5(TRMU):c.2T>A (p.Met1Lys)	TRMU (M1K)	Single nucleotide variant (5 prime UTR variant +3 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GPathogenic
Select item 1382748	NM_018006.5(TRMU):c.4C>T (p.Gln2Ter)	TRMU (Q2*)	Single nucleotide variant (5 prime UTR variant +2 more)	Aminoglycoside-induced deafness +1 more	GPathogenic/Likely pathogenic
Select item 1083033	NM_018006.5(TRMU):c.6G>A (p.Gln2=)	TRMU	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 763389	NM_018006.5(TRMU):c.9C>T (p.Ala3=)	TRMU	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 559289	NM_018006.5(TRMU):c.9_10delinsGG (p.Leu4Val)	TRMU (L4V)	Indel (5 prime UTR variant +2 more)	not provided	GBenign
Select item 137719	NM_018006.5(TRMU):c.9C>G (p.Ala3=)	TRMU	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +2 more	GBenign
Select item 137720	NM_018006.5(TRMU):c.10T>G (p.Leu4Val)	TRMU (L4V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 2633537	NM_018006.5(TRMU):c.11T>C (p.Leu4Ser)	TRMU (L4S)	Single nucleotide variant (missense variant +2 more)	TRMU-related disorder	GUncertain significance
Select item 2248857	NM_018006.5(TRMU):c.14G>C (p.Arg5Pro)	TRMU (R5P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1693778	NM_018006.5(TRMU):c.17A>G (p.His6Arg)	TRMU (H6R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 594924	NM_018006.5(TRMU):c.18C>T (p.His6=)	TRMU	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 3353320	NM_018006.5(TRMU):c.20T>C (p.Val7Ala)	TRMU (V7A)	Single nucleotide variant (5 prime UTR variant +2 more)	TRMU-related disorder	GUncertain significance
Select item 1137731	NM_018006.5(TRMU):c.21C>A (p.Val7=)	TRMU	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1097153	NM_018006.5(TRMU):c.21C>T (p.Val7=)	TRMU	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1905116	NM_018006.5(TRMU):c.24G>T (p.Val8=)	TRMU	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2773143	NM_018006.5(TRMU):c.27C>A (p.Cys9Ter)	TRMU (C9*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 1641286	NM_018006.5(TRMU):c.27C>T (p.Cys9=)	TRMU	Single nucleotide variant (5 prime UTR variant +2 more)	Aminoglycoside-induced deafness +2 more	GLikely benign
Select item 1290	NM_018006.5(TRMU):c.28G>T (p.Ala10Ser)	TRMU (A10S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 1159569	NM_018006.5(TRMU):c.30C>G (p.Ala10=)	TRMU	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 596251	NM_018006.5(TRMU):c.30C>T (p.Ala10=)	TRMU	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 3240636	NM_018006.5(TRMU):c.31_32del (p.Leu11fs)	TRMU (L11fs)	Deletion (frameshift variant +2 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 1095479	NM_018006.5(TRMU):c.33G>A (p.Leu11=)	TRMU	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2156538	NM_018006.5(TRMU):c.36C>G (p.Ser12=)	TRMU	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1132824	NM_018006.5(TRMU):c.36C>T (p.Ser12=)	TRMU	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1155450	NM_018006.5(TRMU):c.39C>T (p.Gly13=)	TRMU	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 799630	NM_018006.5(TRMU):c.39C>G (p.Gly13=)	TRMU	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 557033	NM_018006.5(TRMU):c.40G>A (p.Gly14Ser)	TRMU (G14S)	Single nucleotide variant (5 prime UTR variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more	GUncertain significance
Select item 1088847	NM_018006.5(TRMU):c.42C>G (p.Gly14=)	TRMU	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2892684	NM_018006.5(TRMU):c.48C>T (p.Asp16=)	TRMU	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign

<< First< Prev

Page of 9