ClinVar for Gene (Select 83876) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295877	NM_031939.6(MRO):c.346G>A (p.Val116Ile)	MRO (V116I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3295876	NM_031939.6(MRO):c.640T>G (p.Tyr214Asp)	MRO (Y176D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205066	NM_031939.6(MRO):c.635A>G (p.Glu212Gly)	MRO (E160G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205058	NM_031939.6(MRO):c.530A>C (p.Gln177Pro)	MRO (Q191P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205047	NM_031939.6(MRO):c.401C>T (p.Thr134Ile)	MRO (T134I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205032	NM_031939.6(MRO):c.271C>G (p.Leu91Val)	MRO (L105V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205027	NM_031939.6(MRO):c.-120A>G	MRO (Q9R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2620239	NM_031939.6(MRO):c.128G>A (p.Arg43Gln)	MRO (R57Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2558613	NM_031939.6(MRO):c.304G>C (p.Val102Leu)	MRO (V102L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558078	NM_031939.6(MRO):c.548T>A (p.Leu183Gln)	MRO (L197Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471237	NM_031939.6(MRO):c.283G>A (p.Val95Met)	MRO (V109M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461120	NM_031939.6(MRO):c.398T>C (p.Ile133Thr)	MRO (I133T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405336	NM_031939.6(MRO):c.245A>G (p.Lys82Arg)	MRO (K82R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403975	NM_031939.6(MRO):c.668G>A (p.Arg223Lys)	MRO (R185K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400758	NM_031939.6(MRO):c.673A>G (p.Thr225Ala)	MRO (T173A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390027	NM_031939.6(MRO):c.452C>T (p.Ser151Leu)	MRO (S151L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295778	NM_031939.6(MRO):c.454G>A (p.Ala152Thr)	MRO (A152T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808433	GRCh37/hg19 18q21.2(chr18:48273185-51134173)x3	DCC, ELAC1 +4 more	Copy number gain	not provided	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 1526617	GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)	MAPK4, MBD1 +101 more	Copy number loss	not specified	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1412074	NC_000018.9:g.(?_46570425)_(48604837_?)dup	ACAA2, C18orf32 +14 more	Duplication	not provided	GUncertain significance
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 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 686410	GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3	ACAA2, ALPK2 +66 more	Copy number gain	not provided	GPathogenic
Select item 564571	GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1	ACAA2, ADNP2 +107 more	Copy number loss	not provided	GPathogenic
Select item 564568	GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3	ACAA2, ATP5F1A +55 more	Copy number gain	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 443274	GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3	LINC01879, LMAN1 +101 more	Copy number gain	See cases	GPathogenic
Select item 443196	GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3	ACAA2, ADNP2 +150 more	Copy number gain	See cases	GPathogenic
Select item 443117	GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3	TMX3, TNFRSF11A +128 more	Copy number gain	See cases	GPathogenic
Select item 442528	GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3	ACAA2, ADNP2 +121 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 441853	GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3	ACAA2, ADNP2 +142 more	Copy number gain	See cases	GPathogenic
Select item 441661	GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1	WDR7, ZCCHC2 +109 more	Copy number loss	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 154456	GRCh38/hg38 18q21.1-21.2(chr18:50654541-50922497)x3	LOC129390995, LOC130062498 +4 more	Copy number gain	See cases	GUncertain significance
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 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 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 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 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 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 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 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 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

ClinVar

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Germline classification

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Links from Gene

Items: 59