5265[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ESRRB, EVL +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ZFYVE21, ZNF839 +662 more	Copy number gain	See cases	GPathogenic
Select item 2644478	NM_006220.3(SERPINA2):c.31C>T (p.Leu11=)	SERPINA1, SERPINA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 17988	PI NULL(RIEDENBURG)	LOC126862033, SERPINA1	Deletion	PI NULL(RIEDENBURG)	Gother
Select item 369084	NM_001127701.1(SERPINA1):c.*1703C>T	SERPINA1	Single nucleotide variant	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 887822	NM_000295.5(SERPINA1):c.*1628G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 887823	NM_000295.5(SERPINA1):c.*1576G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 314995	NM_000295.5(SERPINA1):c.*1567C>G	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 314996	NM_000295.5(SERPINA1):c.*1555C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 314997	NM_000295.5(SERPINA1):c.*1494A>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 314998	NM_000295.5(SERPINA1):c.*1414G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 314999	NM_000295.5(SERPINA1):c.*1331G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GBenign/Likely benign
Select item 315000	NM_000295.5(SERPINA1):c.*1294T>C	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315001	NM_000295.5(SERPINA1):c.*1292C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315002	NM_000295.5(SERPINA1):c.*1287G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315003	NM_000295.5(SERPINA1):c.*1235C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315004	NM_000295.5(SERPINA1):c.*1221A>G	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GBenign
Select item 315005	NM_000295.5(SERPINA1):c.*1195G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 885615	NM_000295.5(SERPINA1):c.*1173T>C	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315006	NM_000295.5(SERPINA1):c.*1141A>G	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315007	NM_000295.5(SERPINA1):c.*1067G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GBenign
Select item 885616	NM_000295.5(SERPINA1):c.*1066G>C	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 885617	NM_000295.5(SERPINA1):c.*1061C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315008	NM_000295.5(SERPINA1):c.*968T>C	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GBenign
Select item 886635	NM_000295.5(SERPINA1):c.*946C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315009	NM_000295.5(SERPINA1):c.*854T>C	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GBenign
Select item 886636	NM_000295.5(SERPINA1):c.*853C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315010	NM_000295.5(SERPINA1):c.*792C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 886637	NM_000295.5(SERPINA1):c.*741C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315011	NM_000295.5(SERPINA1):c.*725G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 887882	NM_000295.5(SERPINA1):c.*696C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315012	NM_000295.5(SERPINA1):c.*694A>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315013	NM_000295.5(SERPINA1):c.*678C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 887883	NM_000295.5(SERPINA1):c.*627G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315014	NM_000295.5(SERPINA1):c.*500G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315015	NM_000295.5(SERPINA1):c.*481G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GBenign
Select item 887884	NM_000295.5(SERPINA1):c.*469G>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 884739	NM_000295.5(SERPINA1):c.*442A>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315016	NM_000295.5(SERPINA1):c.*419C>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 884740	NM_000295.5(SERPINA1):c.*413C>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 884741	NM_000295.5(SERPINA1):c.*410A>C	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315017	NM_000295.5(SERPINA1):c.*400C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 884742	NM_000295.5(SERPINA1):c.*371G>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 884743	NM_000295.5(SERPINA1):c.*326A>G	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 315018	NM_000295.5(SERPINA1):c.*316G>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GBenign
Select item 885676	NM_000295.5(SERPINA1):c.*315T>G	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315019	NM_000295.5(SERPINA1):c.*263C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 885677	NM_000295.5(SERPINA1):c.*241G>C	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315020	NM_000295.5(SERPINA1):c.*224G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency +1 more	GBenign
Select item 885678	NM_000295.5(SERPINA1):c.*182C>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 315021	NM_000295.5(SERPINA1):c.*172T>C	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 885679	NM_000295.5(SERPINA1):c.*80C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 885680	NM_000295.5(SERPINA1):c.*18A>G	SERPINA1	Single nucleotide variant (3 prime UTR variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 197657	NM_000295.5(SERPINA1):c.5_14del	SERPINA1	Deletion (3 prime UTR variant)	not provided	GUncertain significance
Select item 3040639	NM_000295.5(SERPINA1):c.*10G>A	SERPINA1	Single nucleotide variant (3 prime UTR variant)	SERPINA1-related condition	GLikely benign
Select item 315022	NM_000295.5(SERPINA1):c.*1C>T	SERPINA1	Single nucleotide variant (3 prime UTR variant)	SERPINA1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1114281	NM_000295.5(SERPINA1):c.1248C>A (p.Thr416=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 1676807	NM_000295.5(SERPINA1):c.1244C>T (p.Pro415Leu)	SERPINA1 (P415L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 440487	NM_000295.5(SERPINA1):c.1226T>C (p.Met409Thr)	SERPINA1 (M409T)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 1129738	NM_000295.5(SERPINA1):c.1225A>G (p.Met409Val)	SERPINA1 (M409V)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 1103533	NM_000295.5(SERPINA1):c.1221C>T (p.Leu407=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219371	NM_000295.5(SERPINA1):c.1208C>T (p.Thr403Ile)	SERPINA1 (T403I)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 595455	NM_000295.5(SERPINA1):c.1206T>C (p.Asn402=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency +2 more	GConflicting classifications of pathogenicity
Select item 17958	NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp)	SERPINA1 (E400D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2678660	NM_000295.5(SERPINA1):c.1179del (p.Phe394fs)	SERPINA1 (F394fs)	Deletion (frameshift variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 1140258	NM_000295.5(SERPINA1):c.1179C>T (p.Pro393=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 2577260	NM_000295.5(SERPINA1):c.1178C>A (p.Pro393His)	SERPINA1 (P393H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1066793	NM_000295.5(SERPINA1):c.1178C>G (p.Pro393Arg)	SERPINA1 (P393R)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 17965	NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)	SERPINA1 (P393L)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 289135	NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)	SERPINA1 (P393S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 219360	NM_000295.5(SERPINA1):c.1177C>A (p.Pro393Thr)	SERPINA1 (P393T)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1133905	NM_000295.5(SERPINA1):c.1176A>G (p.Lys392=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 188845	NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs)	SERPINA1 (E387fs)	Duplication (frameshift variant)	Alpha-1-antitrypsin deficiency	GPathogenic/Likely pathogenic
Select item 17964	NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys)	SERPINA1 (E387K)	Single nucleotide variant (missense variant)	SERPINA1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 698143	NM_000295.5(SERPINA1):c.1158C>T (p.Pro386=)	SERPINA1	Single nucleotide variant (synonymous variant)	SERPINA1-related condition +1 more	GLikely benign
Select item 444037	NM_000295.5(SERPINA1):c.1158del (p.Glu387fs)	SERPINA1 (E387fs)	Deletion (frameshift variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 1050505	NM_000295.5(SERPINA1):c.1157C>A (p.Pro386His)	SERPINA1 (P386H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683275	NM_000295.5(SERPINA1):c.1155_1156delinsTG (p.Pro386Ala)	SERPINA1 (P386A)	Indel (missense variant)	not provided	GUncertain significance
Select item 596169	NM_000295.5(SERPINA1):c.1156C>T (p.Pro386Ser)	SERPINA1 (P386S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 711133	NM_000295.5(SERPINA1):c.1155C>T (p.Pro385=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency +1 more	GLikely benign
Select item 1147150	NM_000295.5(SERPINA1):c.1152C>T (p.Ile384=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 17982	NM_001127701.1(SERPINA1):c.1145T>G (p.Met382Arg)	SERPINA1 (M382R)	Single nucleotide variant (missense variant)	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation +1 more	GPathogenic
Select item 2490100	NM_000295.5(SERPINA1):c.1139T>C (p.Ile380Thr)	SERPINA1 (I380T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 440488	NM_000295.5(SERPINA1):c.1136C>A (p.Ala379Asp)	SERPINA1 (A379D)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 499171	NM_000295.5(SERPINA1):c.1134G>A (p.Glu378=)	SERPINA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 626307	NM_000295.5(SERPINA1):c.1132G>A (p.Glu378Lys)	SERPINA1 (E378K)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 552891	NM_000295.5(SERPINA1):c.1130dup (p.Leu377fs)	SERPINA1 (L377fs)	Duplication (frameshift variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 17978	NM_001127701.1(SERPINA1):c.1131A>T (p.Leu377Phe)	SERPINA1 (L377F)	Single nucleotide variant (missense variant)	PI NULL(MATTAWA)	Gother
Select item 1634106	NM_000295.5(SERPINA1):c.1122C>T (p.Ala374=)	SERPINA1	Single nucleotide variant (synonymous variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 626299	NM_000295.5(SERPINA1):c.1121C>A (p.Ala374Asp)	SERPINA1 (A374D)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 597633	NM_000295.5(SERPINA1):c.1120G>A (p.Ala374Thr)	SERPINA1 (A374T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 799273	NM_000295.5(SERPINA1):c.1119G>A (p.Gly373=)	SERPINA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1796389	NM_000295.5(SERPINA1):c.1116T>C (p.Ala372=)	SERPINA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 219353	NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs)	SERPINA1 (E370fs)	Indel (frameshift variant)	Alpha-1-antitrypsin deficiency	GPathogenic/Likely pathogenic

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