LOC126862763[gene] - ClinVar

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Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC105372173, LOC105372179 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC105372069, LOC105372071 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC121852961, LOC121852962 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062369, LOC130062370 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062321, LOC130062322 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	LOC130062687, LOC130062688 +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	CDH7, CELF4 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062768, LOC130062769 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC130062608, LOC130062609 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC130062514, LOC130062515 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LINC01902, LINC01903 +1005 more	Copy number gain	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	LOC126862765, LOC126862766 +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	LOC130062712, LOC130062713 +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	LOC130062692, LOC130062693 +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	ADNP2, ALPK2 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC114803473, LOC116276491 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC130062739, LOC130062740 +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	LOC130062684, LOC130062685 +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 60211	GRCh38/hg38 18q21.31-21.32(chr18:58251999-58789954)x3	ALPK2, LINC03110 +29 more	Copy number gain	See cases	GUncertain significance
Select item 2914098	NM_001144967.3(NEDD4L):c.298-17T>G	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812888	NM_001144967.3(NEDD4L):c.298-11C>A	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804752	NM_001144967.3(NEDD4L):c.298-5A>G	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1007296	NM_001144967.3(NEDD4L):c.298-4A>G	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1108040	NM_001144967.3(NEDD4L):c.306C>T (p.Asp102=)	LOC126862763, NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 652682	NM_001144967.3(NEDD4L):c.318C>T (p.Gly106=)	LOC126862763, NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1059466	NM_001144967.3(NEDD4L):c.327C>A (p.Asp109Glu)	LOC126862763, NEDD4L (D101E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 697773	NM_001144967.3(NEDD4L):c.327C>T (p.Asp109=)	LOC126862763, NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1359734	NM_001144967.3(NEDD4L):c.328G>A (p.Val110Met)	LOC126862763, NEDD4L (V102M +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 944551	NM_001144967.3(NEDD4L):c.328G>C (p.Val110Leu)	LOC126862763, NEDD4L (V102L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1023433	NM_001144967.3(NEDD4L):c.337A>T (p.Ser113Cys)	LOC126862763, NEDD4L (S105C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1304106	NM_001144967.3(NEDD4L):c.338G>T (p.Ser113Ile)	LOC126862763, NEDD4L (S105I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1926151	NM_001144967.3(NEDD4L):c.342C>T (p.His114=)	LOC126862763, NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2992525	NM_001144967.3(NEDD4L):c.343C>T (p.Leu115Phe)	LOC126862763, NEDD4L (L107F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1368347	NM_001144967.3(NEDD4L):c.347C>T (p.Pro116Leu)	LOC126862763, NEDD4L (P108L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1413193	NM_001144967.3(NEDD4L):c.348G>A (p.Pro116=)	LOC126862763, NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2901938	NM_001144967.3(NEDD4L):c.348+6G>A	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1113735	NM_001144967.3(NEDD4L):c.348+9A>G	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	Periventricular nodular heterotopia 7 +1 more	GLikely benign
Select item 697172	NM_001144967.3(NEDD4L):c.348+10G>T	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1553175	NM_001144967.3(NEDD4L):c.348+18T>G	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235847	NM_001144967.3(NEDD4L):c.348+66T>C	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254207	NM_001144967.3(NEDD4L):c.348+100A>G	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200070	NM_001144967.3(NEDD4L):c.348+267C>A	LOC126862763, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 53