3998[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	LOC126862796, LOC126862797 +733 more	Copy number gain	See cases	GPathogenic
Select item 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 152372	GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	LOC130062613, LOC130062614 +664 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	LOC130062683, LOC130062684 +664 more	Copy number loss	See cases	GPathogenic
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	ALPK2, ATP8B1 +340 more	Copy number loss	See cases	GPathogenic
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	LOC129391005, LOC129391006 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC130062551, LOC130062552 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC126862818, LOC126862819 +636 more	Copy number gain	See cases	GPathogenic
Select item 147283	GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1	ALPK2, ATP8B1 +177 more	Copy number loss	See cases	GPathogenic
Select item 148300	GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	LOC130062592, LOC130062593 +602 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 57345	GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	LOC108281158, LOC110120868 +573 more	Copy number loss	See cases	GPathogenic
Select item 147767	GRCh38/hg38 18q21.32(chr18:58939804-59720672)x3	CCBE1, CPLX4 +30 more	Copy number gain	See cases	GUncertain significance
Select item 327538	NM_005570.4(LMAN1):c.*3107T>A	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GBenign
Select item 327539	NM_005570.4(LMAN1):c.*2929T>C	LMAN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 327540	NM_005570.4(LMAN1):c.*2923C>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327541	NM_005570.4(LMAN1):c.*2893G>A	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891408	NM_005570.4(LMAN1):c.*2670G>C	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327542	NM_005570.4(LMAN1):c.*2650G>A	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891409	NM_005570.4(LMAN1):c.*2637T>C	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327543	NM_005570.4(LMAN1):c.*2602G>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891410	NM_005570.4(LMAN1):c.*2541T>C	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327544	NM_005570.4(LMAN1):c.*2405C>A	LMAN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 327545	NM_005570.4(LMAN1):c.*2387A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 891655	NM_005570.4(LMAN1):c.*2359A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327546	NM_005570.4(LMAN1):c.*2259A>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327547	NM_005570.4(LMAN1):c.*2217G>A	LMAN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 891656	NM_005570.4(LMAN1):c.*2184A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GBenign
Select item 891657	NM_005570.4(LMAN1):c.*2099C>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327548	NM_005570.4(LMAN1):c.*2063C>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 327549	NM_005570.4(LMAN1):c.*2044A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891658	NM_005570.4(LMAN1):c.*2021A>C	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327550	NM_005570.4(LMAN1):c.*1988C>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327551	NM_005570.4(LMAN1):c.*1970T>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889246	NM_005570.4(LMAN1):c.*1921T>C	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GLikely benign
Select item 889247	NM_005570.4(LMAN1):c.*1862A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327552	NM_005570.4(LMAN1):c.*1822G>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GBenign
Select item 327553	NM_005570.4(LMAN1):c.*1799A>C	LMAN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 889248	NM_005570.4(LMAN1):c.*1631A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327554	NM_005570.4(LMAN1):c.*1616A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327555	NM_005570.4(LMAN1):c.*1565C>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889922	NM_005570.4(LMAN1):c.*1556C>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889923	NM_005570.4(LMAN1):c.*1493A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GBenign
Select item 327556	NM_005570.4(LMAN1):c.1452_1455del	LMAN1	Deletion (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889924	NM_005570.4(LMAN1):c.*1390T>C	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327557	NM_005570.4(LMAN1):c.*1390T>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327558	NM_005570.4(LMAN1):c.*1332C>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327559	NM_005570.4(LMAN1):c.*1305A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889925	NM_005570.4(LMAN1):c.*1300C>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327560	NM_005570.4(LMAN1):c.*1298A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891476	NM_005570.4(LMAN1):c.*1271A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327561	NM_005570.4(LMAN1):c.*1168C>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891477	NM_005570.4(LMAN1):c.*1164A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327562	NM_005570.4(LMAN1):c.*939C>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891478	NM_005570.4(LMAN1):c.*860T>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GLikely benign
Select item 891479	NM_005570.4(LMAN1):c.*794A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891480	NM_005570.4(LMAN1):c.*763T>A	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891730	NM_005570.4(LMAN1):c.*753T>C	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891731	NM_005570.4(LMAN1):c.*652T>C	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891732	NM_005570.4(LMAN1):c.*571T>C	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891733	NM_005570.4(LMAN1):c.*492T>C	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327563	NM_005570.4(LMAN1):c.*490C>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GBenign
Select item 891734	NM_005570.4(LMAN1):c.*480A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327564	NM_005570.4(LMAN1):c.*424T>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 891735	NM_005570.4(LMAN1):c.*416C>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889302	NM_005570.4(LMAN1):c.*319A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889303	NM_005570.4(LMAN1):c.*210G>A	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889304	NM_005570.4(LMAN1):c.*185A>T	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327565	NM_005570.4(LMAN1):c.*164A>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 327566	NM_005570.4(LMAN1):c.*57G>A	LMAN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 327567	NM_005570.4(LMAN1):c.*48G>A	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 889305	NM_005570.4(LMAN1):c.*21T>G	LMAN1	Single nucleotide variant (3 prime UTR variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 2255338	NM_005570.4(LMAN1):c.1528T>A (p.Phe510Ile)	LMAN1 (F510I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 889306	NM_005570.4(LMAN1):c.1527C>A (p.Phe509Leu)	LMAN1 (F509L)	Single nucleotide variant (missense variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 2272668	NM_005570.4(LMAN1):c.1490T>C (p.Met497Thr)	LMAN1 (M497T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119192	NM_005570.4(LMAN1):c.1468G>A (p.Val490Ile)	LMAN1 (V490I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 259794	NM_005570.4(LMAN1):c.1461G>A (p.Val487=)	LMAN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2570131	NM_005570.4(LMAN1):c.1438C>T (p.His480Tyr)	LMAN1 (H480Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 889984	NM_005570.4(LMAN1):c.1434G>A (p.Thr478=)	LMAN1	Single nucleotide variant (synonymous variant)	Factor V and factor VIII, combined deficiency of, type 1 +1 more	GUncertain significance
Select item 889985	NM_005570.4(LMAN1):c.1412C>T (p.Pro471Leu)	LMAN1 (P471L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 889986	NM_005570.4(LMAN1):c.1411C>T (p.Pro471Ser)	LMAN1 (P471S)	Single nucleotide variant (missense variant)	Factor V and factor VIII, combined deficiency of, type 1	GUncertain significance
Select item 327568	NM_005570.4(LMAN1):c.1392G>A (p.Pro464=)	LMAN1	Single nucleotide variant (synonymous variant)	Factor V and factor VIII, combined deficiency of, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 889987	NM_005570.4(LMAN1):c.1391C>G (p.Pro464Arg)	LMAN1 (P464R)	Single nucleotide variant (missense variant)	Factor V and factor VIII, combined deficiency of, type 1 +1 more	GUncertain significance
Select item 1183567	NM_005570.4(LMAN1):c.1375-130G>A	LMAN1	Single nucleotide variant (intron variant)	not provided	GBenign

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