6925[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1192

<< First< Prev

Page of 12

	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 59964	GRCh38/hg38 18q21.2(chr18:51875428-55658999)x1	C18orf54, CCDC68 +62 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 57286	GRCh38/hg38 18q21.2(chr18:54291850-55754281)x1	C18orf54, CCDC68 +33 more	Copy number loss	See cases	GPathogenic
Select item 148226	GRCh38/hg38 18q21.2(chr18:54468297-55949009)x1	CCDC68, DYNAP +33 more	Copy number loss	See cases	GPathogenic
Select item 146327	GRCh38/hg38 18q21.2(chr18:54747628-55294739)x3	CCDC68, LINC01929 +18 more	Copy number gain	See cases	GUncertain significance
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 145582	GRCh38/hg38 18q21.2(chr18:55092114-55294739)x1	LINC01929, LOC121627832 +10 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 327220	NM_001083962.2(TCF4):c.*5553dup	TCF4	Duplication (3 prime UTR variant)	Pitt-Hopkins syndrome	GBenign
Select item 327221	NM_001083962.2(TCF4):c.*5553del	TCF4	Deletion (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327222	NM_001083962.2(TCF4):c.*5503T>C	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GBenign
Select item 889243	NM_001083962.2(TCF4):c.*5480G>A	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 889244	NM_001083962.2(TCF4):c.*5479G>A	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 889245	NM_001083962.2(TCF4):c.*5457T>G	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327223	NM_001083962.2(TCF4):c.*5418T>C	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327224	NM_001083962.2(TCF4):c.*5411G>A	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327225	NM_001083962.2(TCF4):c.5392_5393del	TCF4	Deletion (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327226	NM_001083962.2(TCF4):c.*5383T>C	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 889919	NM_001083962.2(TCF4):c.*5370G>A	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 889920	NM_001083962.2(TCF4):c.*5369C>T	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GBenign
Select item 889921	NM_001083962.2(TCF4):c.*5339A>G	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327227	NM_001083962.2(TCF4):c.*5319A>G	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327228	NM_001083962.2(TCF4):c.*5299A>G	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GBenign
Select item 327229	NM_001083962.2(TCF4):c.*5240T>C	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327230	NM_001083962.2(TCF4):c.5189_5192del	TCF4	Deletion (3 prime UTR variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 891470	NM_001083962.2(TCF4):c.*5124G>T	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327231	NM_001083962.2(TCF4):c.*5106T>C	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GBenign
Select item 327232	NM_001083962.2(TCF4):c.*5019T>C	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GBenign
Select item 891471	NM_001083962.2(TCF4):c.*4907G>C	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 891472	NM_001083962.2(TCF4):c.*4833A>G	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 891473	NM_001083962.2(TCF4):c.*4789G>A	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 891474	NM_001083962.2(TCF4):c.*4752A>G	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 891475	NM_001083962.2(TCF4):c.*4623A>T	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327233	NM_001083962.2(TCF4):c.*4549C>G	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GBenign
Select item 327234	NM_001083962.2(TCF4):c.*4477A>C	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 891726	NM_001083962.2(TCF4):c.*4437G>C	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GBenign
Select item 327235	NM_001083962.2(TCF4):c.4354_4357del	TCF4	Deletion (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327237	NM_001083962.2(TCF4):c.4352_4353del	TCF4	Deletion (3 prime UTR variant)	Pitt-Hopkins syndrome	GBenign
Select item 327236	NM_001083962.2(TCF4):c.*4353del	TCF4	Deletion (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327238	NM_001083962.2(TCF4):c.*4338del	TCF4	Deletion (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327241	NM_001083962.2(TCF4):c.4324_4325dup	TCF4	Duplication (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327240	NM_001083962.2(TCF4):c.*4325dup	TCF4	Duplication (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327239	NM_001083962.2(TCF4):c.4325_4326insAT	TCF4	Insertion (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327242	NM_001083962.2(TCF4):c.*4325A>G	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327243	NM_001083962.2(TCF4):c.4320_4321insGAA	TCF4	Insertion (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 891727	NM_001083962.2(TCF4):c.*4320A>G	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327244	NM_001083962.2(TCF4):c.4319_4320insGA	TCF4	Insertion (3 prime UTR variant)	Pitt-Hopkins syndrome	GBenign
Select item 891728	NM_001083962.2(TCF4):c.*4246G>T	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327245	NM_001083962.2(TCF4):c.*4214GTTTTT[3]	TCF4	Microsatellite (3 prime UTR variant)	Pitt-Hopkins syndrome +1 more	GConflicting classifications of pathogenicity
Select item 327246	NM_001083962.2(TCF4):c.*4088T>C	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome +1 more	GBenign
Select item 327247	NM_001083962.2(TCF4):c.4081_4084del	TCF4	Deletion (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327248	NM_001083962.2(TCF4):c.*4061dup	TCF4	Duplication (3 prime UTR variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 327249	NM_001083962.2(TCF4):c.*3982dup	TCF4	Duplication (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327251	NM_001083962.2(TCF4):c.3981_3982del	TCF4	Deletion (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327250	NM_001083962.2(TCF4):c.*3982del	TCF4	Deletion (3 prime UTR variant)	Pitt-Hopkins syndrome	GBenign
Select item 891729	NM_001083962.2(TCF4):c.*3938G>A	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GBenign
Select item 327253	NM_001083962.2(TCF4):c.3868_3870del	TCF4	Deletion (3 prime UTR variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 327252	NM_001083962.2(TCF4):c.*3870del	TCF4	Deletion (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327254	NM_001083962.2(TCF4):c.*3756A>G	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 889299	NM_001083962.2(TCF4):c.*3563A>C	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327255	NM_001083962.2(TCF4):c.*3529T>A	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327256	NM_001083962.2(TCF4):c.*3491C>T	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GBenign
Select item 327257	NM_001083962.2(TCF4):c.*3418dup	TCF4	Duplication (3 prime UTR variant)	Pitt-Hopkins syndrome	GBenign
Select item 327258	NM_001083962.2(TCF4):c.*3404G>C	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome +1 more	GBenign/Likely benign
Select item 327259	NM_001083962.2(TCF4):c.*3397dup	TCF4	Duplication (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2571014	NM_001083962.2(TCF4):c.*3397T>A	TCF4	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 889300	NM_001083962.2(TCF4):c.*3386A>T	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327260	NM_001083962.2(TCF4):c.*3349C>A	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 889301	NM_001083962.2(TCF4):c.*3338A>G	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327261	NM_001083962.2(TCF4):c.*3269T>A	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GBenign
Select item 889980	NM_001083962.2(TCF4):c.*3209A>C	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 889981	NM_001083962.2(TCF4):c.*3130C>T	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327262	NM_001083962.2(TCF4):c.*3116C>T	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327263	NM_001083962.2(TCF4):c.*3058C>T	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GBenign
Select item 889982	NM_001083962.2(TCF4):c.*3014C>G	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327264	NM_001083962.2(TCF4):c.*2989GTT[2]	TCF4	Microsatellite (3 prime UTR variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 327265	NM_001083962.2(TCF4):c.*2951A>G	TCF4	Single nucleotide variant (3 prime UTR variant)	Pitt-Hopkins syndrome	GBenign

<< First< Prev

Page of 12