ClinVar for Gene (Select 4225) - ClinVar

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Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294251	NM_005925.3(MEP1B):c.418A>T (p.Ile140Phe)	MEP1B (I140F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294250	NM_005925.3(MEP1B):c.278A>G (p.Asn93Ser)	MEP1B (N93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294249	NM_005925.3(MEP1B):c.1762A>G (p.Ile588Val)	MEP1B (I588V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125338	NM_005925.3(MEP1B):c.968C>A (p.Ala323Asp)	MEP1B (A323D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125337	NM_005925.3(MEP1B):c.902A>G (p.Asn301Ser)	MEP1B (N301S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125336	NM_005925.3(MEP1B):c.733G>C (p.Asp245His)	MEP1B (D245H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125335	NM_005925.3(MEP1B):c.445A>T (p.Thr149Ser)	MEP1B (T149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125334	NM_005925.3(MEP1B):c.440T>C (p.Ile147Thr)	MEP1B (I147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125333	NM_005925.3(MEP1B):c.274C>T (p.Leu92Phe)	MEP1B (L92F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125332	NM_005925.3(MEP1B):c.1780A>G (p.Thr594Ala)	MEP1B (T594A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125331	NM_005925.3(MEP1B):c.1679G>C (p.Ser560Thr)	MEP1B (S560T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125330	NM_005925.3(MEP1B):c.1531C>T (p.Arg511Cys)	MEP1B (R511C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125329	NM_005925.3(MEP1B):c.1289A>T (p.His430Leu)	MEP1B (H430L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685618	GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)x1	ASXL3, B4GALT6 +35 more	Copy number loss	not provided	GPathogenic
Select item 2620153	NM_005925.3(MEP1B):c.1580A>G (p.Asp527Gly)	MEP1B (D527G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612111	NM_005925.3(MEP1B):c.236T>C (p.Leu79Pro)	MEP1B (L79P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589388	NM_005925.3(MEP1B):c.2029T>A (p.Cys677Ser)	MEP1B (C677S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518554	NM_005925.3(MEP1B):c.1934A>G (p.Lys645Arg)	MEP1B (K645R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494035	NM_005925.3(MEP1B):c.1825T>C (p.Ser609Pro)	MEP1B (S609P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492166	NM_005925.3(MEP1B):c.1280G>T (p.Cys427Phe)	MEP1B (C427F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484218	NM_005925.3(MEP1B):c.2071C>T (p.Pro691Ser)	MEP1B (P691S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458097	NM_005925.3(MEP1B):c.321G>T (p.Lys107Asn)	MEP1B (K107N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404279	NM_005925.3(MEP1B):c.122A>G (p.Asn41Ser)	MEP1B (N41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401890	NM_005925.3(MEP1B):c.1865G>A (p.Arg622Gln)	MEP1B (R622Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391218	NM_005925.3(MEP1B):c.1213C>T (p.Arg405Cys)	MEP1B (R405C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369830	NM_005925.3(MEP1B):c.494C>T (p.Ser165Leu)	MEP1B (S165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340211	NM_005925.3(MEP1B):c.859C>T (p.Arg287Trp)	MEP1B (R287W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335864	NM_005925.3(MEP1B):c.887A>G (p.Glu296Gly)	MEP1B (E296G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333273	NM_005925.3(MEP1B):c.493T>A (p.Ser165Thr)	MEP1B (S165T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333272	NM_005925.3(MEP1B):c.236T>G (p.Leu79Arg)	MEP1B (L79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317271	NM_005925.3(MEP1B):c.1253A>G (p.Asp418Gly)	MEP1B (D418G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304919	NM_005925.3(MEP1B):c.421G>T (p.Gly141Trp)	MEP1B (G141W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297596	NM_005925.3(MEP1B):c.392G>A (p.Arg131Lys)	MEP1B (R131K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277126	NM_005925.3(MEP1B):c.1978A>G (p.Thr660Ala)	MEP1B (T660A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249068	NM_005925.3(MEP1B):c.53T>C (p.Ile18Thr)	MEP1B (I18T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244033	NM_005925.3(MEP1B):c.1900G>A (p.Glu634Lys)	MEP1B (E634K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242512	NM_005925.3(MEP1B):c.964G>C (p.Gly322Arg)	MEP1B (G322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237545	NM_005925.3(MEP1B):c.1567T>C (p.Phe523Leu)	MEP1B (F523L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235149	NM_005925.3(MEP1B):c.1522A>G (p.Ile508Val)	MEP1B (I508V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1340783	GRCh37/hg19 18q12.1(chr18:29734579-29807636)x1	MEP1B	Copy number loss	not provided	GLikely benign
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 983154	GRCh37/hg19 18q11.2-12.2(chr18:23971647-33737300)x1	AQP4, ASXL3 +35 more	Copy number loss	See cases	GPathogenic
Select item 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 815998	GRCh37/hg19 18q11.2-12.2(chr18:22868759-34335753)x1	AQP4, ASXL3 +40 more	Copy number loss	not provided	GPathogenic
Select item 815997	GRCh37/hg19 18q12.1(chr18:29734579-29816911)x1	MEP1B	Copy number loss	not provided	GLikely benign
Select item 564554	GRCh37/hg19 18q12.1-12.2(chr18:29711972-35866193)x1	ASXL3, C18orf21 +22 more	Copy number loss	not provided	GPathogenic
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443062	GRCh37/hg19 18q11.2-12.2(chr18:20069932-36887326)x1	ANKRD29, AQP4 +56 more	Copy number loss	See cases	GPathogenic
Select item 443054	GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3	ARK2C, ARK2N +62 more	Copy number gain	See cases	GLikely benign
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 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 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 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 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 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 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 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 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 59958	GRCh38/hg38 18q12.1-12.3(chr18:32111530-44070219)x1	ASXL3, C18orf21 +129 more	Copy number loss	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 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 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 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 57393	GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1	ASXL3, B4GALT6 +167 more	Copy number loss	See cases	GPathogenic
Select item 57135	GRCh38/hg38 18q12.1-12.3(chr18:31655749-42564094)x3	ASXL3, B4GALT6 +146 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

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Links from Gene

Items: 76