ClinVar for Gene (Select 4139) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293333	NM_018650.5(MARK1):c.2323A>G (p.Ile775Val)	MARK1 (I760V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 3123659	NM_018650.5(MARK1):c.848A>T (p.Asp283Val)	MARK1 (D261V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123658	NM_018650.5(MARK1):c.1985G>A (p.Arg662His)	MARK1 (R640H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123657	NM_018650.5(MARK1):c.1943C>T (p.Thr648Met)	MARK1 (T649M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123656	NM_018650.5(MARK1):c.1591A>G (p.Ser531Gly)	MARK1 (S509G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123655	NM_018650.5(MARK1):c.1543G>A (p.Val515Ile)	MARK1 (V493I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123654	NM_018650.5(MARK1):c.124C>T (p.Arg42Trp)	MARK1 (R42W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2776120	NM_018650.5(MARK1):c.552+24_552+25del	MARK1	Deletion (intron variant)	not provided	GBenign
Select item 2685821	GRCh37/hg19 1q41(chr1:214853277-222111742)x1	BPNT1, C1orf115 +20 more	Copy number loss	not provided	GPathogenic
Select item 2681387	NM_018650.5(MARK1):c.823C>T (p.Arg275Cys)	MARK1 (R253C +1 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2639912	NM_018650.5(MARK1):c.1140G>A (p.Ser380=)	MARK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614563	NM_018650.5(MARK1):c.676G>A (p.Glu226Lys)	MARK1 (E204K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599031	NM_018650.5(MARK1):c.1730G>A (p.Arg577Gln)	MARK1 (R577Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2597006	NM_018650.5(MARK1):c.1739C>T (p.Thr580Ile)	MARK1 (T580I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568456	NM_018650.5(MARK1):c.1397T>C (p.Val466Ala)	MARK1 (V444A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554611	NM_018650.5(MARK1):c.1054G>A (p.Ala352Thr)	MARK1 (A330T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537627	NM_018650.5(MARK1):c.1534G>T (p.Asp512Tyr)	MARK1 (D490Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531331	NM_018650.5(MARK1):c.1172G>A (p.Arg391Gln)	MARK1 (R369Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489995	NM_018650.5(MARK1):c.1280G>A (p.Gly427Asp)	MARK1 (G427D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483778	NM_018650.5(MARK1):c.247G>C (p.Gly83Arg)	MARK1 (G83R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456560	NM_018650.5(MARK1):c.1750G>A (p.Val584Met)	MARK1 (V562M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454926	NM_018650.5(MARK1):c.151A>G (p.Thr51Ala)	MARK1 (T51A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426429	NC_000001.10:g.(?_220088791)_(220986760_?)dup	BPNT1, C1orf115 +9 more	Duplication	not provided	GUncertain significance
Select item 2425804	NC_000001.10:g.(?_218520044)_(220986760_?)del	MTARC2, RAB3GAP2 +11 more	Deletion	Martsolf syndrome +1 more	GPathogenic
Select item 2410691	NM_018650.5(MARK1):c.181C>T (p.Arg61Cys)	MARK1 (R61C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410132	NM_018650.5(MARK1):c.992A>G (p.Asn331Ser)	MARK1 (N331S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365712	NM_018650.5(MARK1):c.44C>T (p.Thr15Met)	MARK1 (T15M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333178	NM_018650.5(MARK1):c.1718C>T (p.Ser573Phe)	MARK1 (S573F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311907	NM_018650.5(MARK1):c.239T>C (p.Val80Ala)	MARK1 (V80A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304964	NM_018650.5(MARK1):c.803G>A (p.Arg268Gln)	MARK1 (R246Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250144	NM_018650.5(MARK1):c.836A>G (p.Tyr279Cys)	MARK1 (Y257C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238368	NM_018650.5(MARK1):c.2257G>A (p.Val753Met)	MARK1 (V716M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233920	NM_018650.5(MARK1):c.733G>A (p.Val245Ile)	MARK1 (V245I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215600	NM_018650.5(MARK1):c.2045G>C (p.Gly682Ala)	MARK1 (G683A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1199386	Single allele	IARS2, BROX +27 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979931	GRCh37/hg19 1q41(chr1:220618582-220751050)x1	MARK1	Copy number loss	not provided	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 814162	GRCh37/hg19 1q41-42.11(chr1:219734913-224104993)x1	BROX, HHIPL2 +24 more	Copy number loss	not provided	GPathogenic
Select item 784970	NM_018650.5(MARK1):c.1621G>C (p.Ala541Pro)	MARK1 (A541P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 779300	NM_018650.5(MARK1):c.771C>T (p.Phe257=)	MARK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 756166	NM_018650.5(MARK1):c.1299T>C (p.Ala433=)	MARK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738034	NM_018650.5(MARK1):c.606T>C (p.Gly202=)	MARK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688023	GRCh37/hg19 1q41(chr1:219379258-222049547)x3	BPNT1, C1orf115 +12 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565229	GRCh37/hg19 1q41(chr1:220659314-220984506)x1	MARK1, MTARC1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 438260	Single allele	BPNT1, C1orf115 +146 more	Deletion	Usher syndrome	GLikely pathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 224870	Single allele	TGFB2, USH2A +19 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 161040	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 58129	GRCh38/hg38 1q41(chr1:215447347-221971832)x3	BPNT1, C1orf115 +135 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 34890	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 67