LOC130062560[gene] - ClinVar

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Items: 45

	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 663413	NC_000018.9:g.(?_55225777)_(56940458_?)dup	LOC130062566, LOC130062567 +87 more	Duplication	not provided	GUncertain significance
Select item 2061175	NM_000140.5(FECH):c.67+20C>T	FECH, LOC130062560	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1606577	NM_000140.5(FECH):c.67+8G>T	FECH, LOC130062560	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2138164	NM_000140.5(FECH):c.67+6T>G	FECH, LOC130062560	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1510471	NM_000140.5(FECH):c.67+5G>A	FECH, LOC130062560	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2972887	NM_000140.5(FECH):c.67+4A>G	FECH, LOC130062560	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1452410	NM_000140.5(FECH):c.63_67delTCCGC (p.Pro22fs)	FECH, LOC130062560 (P22fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2211641	NM_000140.5(FECH):c.47G>A (p.Gly16Asp)	FECH, LOC130062560 (G16D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 930105	NM_000140.5(FECH):c.47del (p.Gly16fs)	FECH, LOC130062560 (G16fs)	Deletion (frameshift variant +1 more)	Autosomal erythropoietic protoporphyria	GLikely pathogenic
Select item 1805745	NM_000140.5(FECH):c.40del (p.Ala14fs)	FECH, LOC130062560 (A14fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 2458659	NM_000140.5(FECH):c.37C>A (p.Arg13Ser)	FECH, LOC130062560 (R13S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1615173	NM_000140.5(FECH):c.34C>T (p.Leu12=)	FECH, LOC130062560	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1002019	NM_000140.5(FECH):c.14_15delinsAA (p.Gly5Glu)	FECH, LOC130062560 (G5E)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2187456	NM_000140.5(FECH):c.10C>T (p.Leu4Phe)	FECH, LOC130062560 (L4F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1985962	NM_000140.5(FECH):c.2T>C (p.Met1Thr)	FECH, LOC130062560 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1402419	NC_000018.10:g.57586871C>G	FECH, LOC130062560	Single nucleotide variant	not provided	GPathogenic
Select item 255310	NM_000140.3(FECH):c.-252A>G	FECH, LOC130062560	Single nucleotide variant	not specified +1 more	GBenign

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Items: 45