30062[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	LOC126862722, LOC126862723 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LINC00683, LINC00907 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	DTNA, DYM +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LINC01478, LINC01538 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062393, LOC130062394 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	RNF138, RNF152 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC130062575, LOC130062576 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	ABHD3, ACAA2 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	SKA1, SKOR2 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC130062446, LOC130062447 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	ACAA2, ADNP2 +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	ACAA2, ADNP2 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LOC125371434, LOC125371435 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	ACAA2, ADNP2 +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	ADNP2, ALPK2 +664 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	ADNP2, ALPK2 +664 more	Copy number loss	See cases	GPathogenic
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	LOC130062661, LOC130062662 +340 more	Copy number loss	See cases	GPathogenic
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	LOC130062755, LOC130062756 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC130062777, LOC130062778 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC130062712, LOC130062713 +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	LOC110121390, LOC111365201 +602 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	ADNP2, ALPK2 +572 more	Copy number loss	See cases	GPathogenic
Select item 57345	GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	ADNP2, ALPK2 +573 more	Copy number loss	See cases	GPathogenic
Select item 663413	NC_000018.9:g.(?_55225777)_(56940458_?)dup	LOC130062577, LOC130062578 +87 more	Duplication	not provided	GUncertain significance
Select item 147767	GRCh38/hg38 18q21.32(chr18:58939804-59720672)x3	CCBE1, CPLX4 +30 more	Copy number gain	See cases	GUncertain significance
Select item 892430	NM_013435.3(RAX):c.*1921C>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327501	NM_013435.3(RAX):c.*1878T>C	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GLikely benign
Select item 327502	NM_013435.3(RAX):c.*1817A>G	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889050	NM_013435.3(RAX):c.*1795C>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889051	NM_013435.3(RAX):c.*1771G>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327503	NM_013435.3(RAX):c.*1756C>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327504	NM_013435.3(RAX):c.*1746G>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GBenign
Select item 327505	NM_013435.3(RAX):c.*1737C>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889052	NM_013435.3(RAX):c.*1674A>G	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889740	NM_013435.3(RAX):c.*1651G>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889741	NM_013435.3(RAX):c.*1564T>C	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GBenign
Select item 327506	NM_013435.3(RAX):c.*1547G>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327507	NM_013435.3(RAX):c.*1525G>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327508	NM_013435.3(RAX):c.*1516G>C	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GLikely benign
Select item 889742	NM_013435.3(RAX):c.*1437G>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GLikely benign
Select item 327509	NM_013435.3(RAX):c.*1437G>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889743	NM_013435.3(RAX):c.*1418G>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327510	NM_013435.3(RAX):c.*1389C>G	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327511	NM_013435.3(RAX):c.1373_1374del	RAX	Deletion (3 prime UTR variant)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 327512	NM_013435.3(RAX):c.*1373del	RAX	Deletion (3 prime UTR variant)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 327514	NM_013435.3(RAX):c.1371_1372del	RAX	Deletion (3 prime UTR variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 327513	NM_013435.3(RAX):c.*1372del	RAX	Deletion (3 prime UTR variant)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 327515	NM_013435.3(RAX):c.*1365G>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 891287	NM_013435.3(RAX):c.*1363G>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327516	NM_013435.3(RAX):c.*1362G>C	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327517	NM_013435.3(RAX):c.*1361G>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327518	NM_013435.3(RAX):c.*1358del	RAX	Deletion (3 prime UTR variant)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 891288	NM_013435.3(RAX):c.*1350T>G	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327519	NM_013435.3(RAX):c.*1319C>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GLikely benign
Select item 327520	NM_013435.3(RAX):c.*1300A>G	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327521	NM_013435.3(RAX):c.*1272G>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GLikely benign
Select item 892483	NM_013435.3(RAX):c.*1194G>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 892484	NM_013435.3(RAX):c.*1127C>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 892485	NM_013435.3(RAX):c.*1089C>G	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 892486	NM_013435.3(RAX):c.*1038C>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327522	NM_013435.3(RAX):c.*917C>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GLikely benign
Select item 327523	NM_013435.3(RAX):c.*908T>C	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GLikely benign
Select item 892487	NM_013435.3(RAX):c.*857G>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327524	NM_013435.3(RAX):c.*850C>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889107	NM_013435.3(RAX):c.*797G>C	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889108	NM_013435.3(RAX):c.*711G>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889109	NM_013435.3(RAX):c.*705G>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889110	NM_013435.3(RAX):c.*409G>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GBenign
Select item 327525	NM_013435.3(RAX):c.*376C>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GLikely benign
Select item 889111	NM_013435.3(RAX):c.*353G>A	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 327526	NM_013435.3(RAX):c.*328A>G	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889800	NM_013435.3(RAX):c.*294C>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GBenign
Select item 327527	NM_013435.3(RAX):c.*291C>T	RAX	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 327528	NM_013435.3(RAX):c.*236C>T	RAX	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 327529	NM_013435.3(RAX):c.*120C>G	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889801	NM_013435.3(RAX):c.*88C>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889802	NM_013435.3(RAX):c.*46C>G	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889803	NM_013435.3(RAX):c.*29C>T	RAX	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 3	GUncertain significance
Select item 889804	NM_013435.3(RAX):c.998A>G (p.Lys333Arg)	RAX (K333R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2206418	NM_013435.3(RAX):c.967A>G (p.Ser323Gly)	RAX (S323G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 327530	NM_013435.3(RAX):c.922G>A (p.Gly308Ser)	RAX (G308S)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3	GUncertain significance
Select item 891346	NM_013435.3(RAX):c.921C>G (p.Pro307=)	RAX	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 3	GUncertain significance
Select item 2263208	NM_013435.3(RAX):c.917G>T (p.Gly306Val)	RAX (G306V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400844	NM_013435.3(RAX):c.916G>A (p.Gly306Arg)	RAX (G306R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 7638	NM_013435.3(RAX):c.909C>G (p.Tyr303Ter)	RAX (Y303*)	Single nucleotide variant (nonsense)	Isolated microphthalmia 3	GPathogenic
Select item 260310	NM_013435.3(RAX):c.882A>G (p.Gln294=)	RAX	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2306832	NM_013435.3(RAX):c.874G>A (p.Gly292Ser)	RAX (G292S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534519	NM_013435.3(RAX):c.867G>C (p.Leu289Phe)	RAX (L289F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2055375	NM_013435.3(RAX):c.867G>T (p.Leu289Phe)	RAX (L289F)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3	GUncertain significance
Select item 891347	NM_013435.3(RAX):c.863C>A (p.Pro288Gln)	RAX (P288Q)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3	GUncertain significance
Select item 3152015	NM_013435.3(RAX):c.862C>T (p.Pro288Ser)	RAX (P288S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493426	NM_013435.3(RAX):c.857C>G (p.Ser286Cys)	RAX (S286C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493425	NM_013435.3(RAX):c.856T>A (p.Ser286Thr)	RAX (S286T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152014	NM_013435.3(RAX):c.838C>A (p.Pro280Thr)	RAX (P280T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 327531	NM_013435.3(RAX):c.835C>G (p.Pro279Ala)	RAX (P279A)	Single nucleotide variant (missense variant)	Isolated microphthalmia 3	GUncertain significance

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