MARK2[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic
Select item 734662	NM_001039469.3(MARK2):c.55-5C>T	MARK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2410503	NM_001039469.3(MARK2):c.148A>G (p.Ile50Val)	MARK2 (I17V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123661	NM_001039469.3(MARK2):c.156C>G (p.Asn52Lys)	MARK2 (N19K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 764900	NM_001039469.3(MARK2):c.264A>G (p.Gln88=)	MARK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774625	NM_001039469.3(MARK2):c.337+8C>G	MARK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2484967	NM_001039469.3(MARK2):c.398G>A (p.Ser133Asn)	MARK2 (S100N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429019	NM_001039469.3(MARK2):c.404-2A>C	MARK2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1343201	NM_001039469.3(MARK2):c.404-1G>A	MARK2	Single nucleotide variant (splice acceptor variant)	Developmental disorder	GLikely benign
Select item 2672226	NM_001039469.3(MARK2):c.457C>T (p.Arg153Ter)	MARK2 (R120* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 982302	NM_001039469.3(MARK2):c.581T>C (p.Phe194Ser)	MARK2 (F161S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 758696	NM_001039469.3(MARK2):c.783G>C (p.Arg261=)	MARK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 982301	NM_001039469.3(MARK2):c.904C>T (p.Arg302Ter)	MARK2 (R269* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 717350	NM_001039469.3(MARK2):c.924C>T (p.His308=)	MARK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2303203	NM_001039469.3(MARK2):c.997G>A (p.Val333Met)	MARK2 (V300M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 548011	NM_001039469.3(MARK2):c.1120del (p.Thr374fs)	MARK2 (T341fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2260000	NM_001039469.3(MARK2):c.1151C>A (p.Thr384Asn)	MARK2 (T351N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368065	NM_001039469.3(MARK2):c.1166C>T (p.Pro389Leu)	MARK2 (P356L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305041	NM_001039469.3(MARK2):c.1184T>C (p.Val395Ala)	MARK2 (V395A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379070	NM_001039469.3(MARK2):c.1294G>A (p.Ala432Thr)	MARK2 (A432T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711552	NM_001039469.3(MARK2):c.1377C>A (p.Pro459=)	MARK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2470048	NM_001039469.3(MARK2):c.1544C>T (p.Thr515Met)	MARK2 (T481M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606875	NM_001039469.3(MARK2):c.1564G>C (p.Val522Leu)	MARK2 (V488L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495596	NM_001039469.3(MARK2):c.1567T>A (p.Ser523Thr)	MARK2 (S489T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123662	NM_001039469.3(MARK2):c.1639C>T (p.Pro547Ser)	MARK2 (P547S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207570	NM_001039469.3(MARK2):c.1714G>A (p.Ala572Thr)	MARK2 (A518T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478739	NM_001039469.3(MARK2):c.1742C>G (p.Ala581Gly)	MARK2 (A526G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410854	NM_001039469.3(MARK2):c.1898G>A (p.Ser633Asn)	MARK2 (S578N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570695	NM_001039469.3(MARK2):c.1931G>T (p.Arg644Leu)	MARK2 (R610L +3 more)	Single nucleotide variant (missense variant)	Seizure +5 more	GUncertain significance
Select item 2212924	NM_001039469.3(MARK2):c.2002C>T (p.Leu668Phe)	MARK2 (L625F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595856	NM_001039469.3(MARK2):c.2023A>G (p.Ser675Gly)	MARK2 (S596G +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2590764	NM_001039469.3(MARK2):c.2171A>C (p.Gln724Pro)	MARK2 (Q645P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789488	NM_001039469.3(MARK2):c.2175C>T (p.Ser725=)	MARK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790097	NM_001039469.3(MARK2):c.2220G>A (p.Pro740=)	MARK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2524817	NM_001039469.3(MARK2):c.2230G>A (p.Asp744Asn)	MARK2 (D744N +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372628	NM_001039469.3(MARK2):c.2361G>T (p.Lys787Asn)	MARK2 (K723N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685408	GRCh37/hg19 11q13.1(chr11:63643711-64533636)x1	BAD, CATSPERZ +29 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 634998	dup(11)(q13.1q13.1)	ARL2, ATG2A +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 46