2235[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 327315	NM_000140.5(FECH):c.*5801T>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327316	NM_000140.5(FECH):c.*5628C>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327317	NM_000140.5(FECH):c.*5588G>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327318	NM_000140.5(FECH):c.*5394G>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327319	NM_000140.5(FECH):c.*5349C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327320	NM_000140.5(FECH):c.*5247T>C	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327321	NM_000140.5(FECH):c.*5170T>C	FECH, LOC130062554	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327322	NM_000140.5(FECH):c.*5143C>T	FECH, LOC130062554	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327323	NM_000140.5(FECH):c.*5140G>A	FECH, LOC130062554	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327324	NM_000140.5(FECH):c.*5139C>T	FECH, LOC130062554	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327325	NM_000140.5(FECH):c.*5090G>A	LOC130062554, FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327326	NM_000140.5(FECH):c.*4971A>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327327	NM_000140.5(FECH):c.*4891dup	FECH	Duplication (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327328	NM_000140.5(FECH):c.*4886T>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327329	NM_000140.5(FECH):c.4883_4884insC	FECH	Insertion (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327330	NM_000140.5(FECH):c.*4829C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327331	NM_000140.5(FECH):c.*4793TTA[1]	FECH	Microsatellite (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327332	NM_000140.5(FECH):c.*4720T>C	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327333	NM_000140.5(FECH):c.*4598T>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327334	NM_000140.5(FECH):c.*4597T>C	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327335	NM_000140.5(FECH):c.*4563G>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327336	NM_000140.5(FECH):c.*4528C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327337	NM_000140.5(FECH):c.*4463A>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327338	NM_000140.5(FECH):c.*4458C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327339	NM_000140.5(FECH):c.*4449A>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327340	NM_000140.5(FECH):c.*4445G>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327341	NM_000140.5(FECH):c.*4368G>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327342	NM_000140.5(FECH):c.*4367C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327343	NM_000140.5(FECH):c.*4363G>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327344	NM_000140.5(FECH):c.*4337G>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327345	NM_000140.5(FECH):c.*4336A>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327346	NM_000140.5(FECH):c.*4237A>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327347	NM_000140.5(FECH):c.*4106A>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327348	NM_000140.5(FECH):c.*4077C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327349	NM_000140.5(FECH):c.*4056C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327350	NM_000140.5(FECH):c.*3976C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327351	NM_000140.5(FECH):c.*3841C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327352	NM_000140.5(FECH):c.*3804G>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327353	NM_000140.5(FECH):c.*3788A>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327354	NM_000140.5(FECH):c.3753_3754insT	FECH	Insertion (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327355	NM_000140.5(FECH):c.*3719C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327356	NM_000140.5(FECH):c.*3716C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327357	NM_000140.5(FECH):c.*3691C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327358	NM_000140.5(FECH):c.*3656C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327359	NM_000140.5(FECH):c.*3601A>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327360	NM_000140.5(FECH):c.*3567G>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327361	NM_000140.5(FECH):c.*3377G>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327362	NM_000140.5(FECH):c.*3339G>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327363	NM_000140.5(FECH):c.*3170T>C	FECH, LOC129390998	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327364	NM_000140.5(FECH):c.*3129C>T	FECH, LOC129390998	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327365	NM_000140.5(FECH):c.*2840C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327366	NM_000140.5(FECH):c.*2825A>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327367	NM_000140.5(FECH):c.*2788G>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327368	NM_000140.5(FECH):c.*2782G>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327369	NM_000140.5(FECH):c.*2739T>C	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327370	NM_000140.5(FECH):c.*2644A>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327371	NM_000140.5(FECH):c.*2600G>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327372	NM_000140.5(FECH):c.*2599C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327373	NM_000140.5(FECH):c.*2526T>C	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1 +1 more	GBenign
Select item 327374	NM_000140.5(FECH):c.*2513G>A	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327376	NM_000140.5(FECH):c.2459_2461dup	FECH	Duplication (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327375	NM_000140.5(FECH):c.*2461dup	FECH	Duplication (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327377	NM_000140.5(FECH):c.2451_2452insG	FECH	Insertion (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327379	NM_000140.5(FECH):c.*2451T>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GBenign
Select item 327378	NM_000140.5(FECH):c.2450_2451insG	FECH	Insertion (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327380	NM_000140.5(FECH):c.*2436GTTTT[2]	FECH	Microsatellite (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327381	NM_000140.5(FECH):c.*2446G>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1 +1 more	GUncertain significance
Select item 327382	NM_000140.5(FECH):c.*2443T>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GLikely benign
Select item 327383	NM_000140.5(FECH):c.*2441G>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327384	NM_000140.5(FECH):c.*2371T>G	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1 +1 more	GBenign
Select item 327385	NM_000140.5(FECH):c.*2079C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance
Select item 327386	NM_000140.5(FECH):c.*2060C>T	FECH	Single nucleotide variant (3 prime UTR variant)	Protoporphyria, erythropoietic, 1	GUncertain significance

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