ClinVar for Gene (Select 3140) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295779	NM_001385161.1(MR1):c.823C>T (p.Leu275Phe)	MR1 (L246F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295778	NM_001385161.1(MR1):c.133A>G (p.Ile45Val)	MR1 (I45V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295777	NM_001385161.1(MR1):c.409G>A (p.Asp137Asn)	MR1 (D66N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295775	NM_001385161.1(MR1):c.487C>G (p.Gln163Glu)	MR1 (Q163E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295774	NM_001385161.1(MR1):c.536T>C (p.Leu179Pro)	MR1 (L179P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295773	NM_001385161.1(MR1):c.202C>T (p.Arg68Trp)	MR1 (R68W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295772	NM_001385161.1(MR1):c.977G>A (p.Arg326Lys)	MR1 (R297K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3247901	NC_000001.10:g.(?_179520308)_(183559464_?)del	ACBD6, AXDND1 +29 more	Deletion	not provided	GPathogenic
Select item 3203821	NM_001385161.1(MR1):c.870G>T (p.Gln290His)	MR1 (Q261H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203795	NM_001385161.1(MR1):c.340T>C (p.Tyr114His)	MR1 (Y43H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203790	NM_001385161.1(MR1):c.337A>G (p.Thr113Ala)	MR1 (T113A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203776	NM_001385161.1(MR1):c.100G>A (p.Val34Ile)	MR1 (V34I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 2618915	NM_001385161.1(MR1):c.273G>C (p.Trp91Cys)	MR1 (W20C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594685	NM_001385161.1(MR1):c.822C>A (p.Asn274Lys)	MR1 (N229K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593728	NM_001385161.1(MR1):c.434A>G (p.Asn145Ser)	MR1 (N145S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551426	NM_001385161.1(MR1):c.40G>A (p.Val14Met)	MR1 (V14M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478872	NM_001385161.1(MR1):c.801G>T (p.Glu267Asp)	MR1 (E267D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391306	NM_001385161.1(MR1):c.263T>C (p.Leu88Pro)	MR1 (L88P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373042	NM_001385161.1(MR1):c.410A>G (p.Asp137Gly)	MR1 (D137G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355384	NM_001385161.1(MR1):c.385A>G (p.Thr129Ala)	MR1 (T129A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280945	NM_001385161.1(MR1):c.139G>A (p.Val47Ile)	MR1 (V47I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261341	NM_001385161.1(MR1):c.907A>C (p.Lys303Gln)	MR1 (K303Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252433	NM_001385161.1(MR1):c.323A>T (p.His108Leu)	MR1 (H108L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249069	NM_001385161.1(MR1):c.796A>G (p.Ile266Val)	MR1 (I237V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2233303	NM_001385161.1(MR1):c.38T>C (p.Ile13Thr)	MR1 (I13T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224828	NM_001385161.1(MR1):c.148G>A (p.Val50Met)	MR1 (V50M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1527470	GRCh37/hg19 1q25.3(chr1:180830413-183981164)	APOBEC4, ARPC5 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1510700	NC_000001.10:g.(?_179520308)_(183559464_?)dup	ACBD6, AXDND1 +29 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 996147	NM_001385161.1(MR1):c.92G>A (p.Arg31His)	MR1 (R31H)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency	GPathogenic
Select item 979313	GRCh37/hg19 1q25.3(chr1:180908145-181004325)x1	MR1, STX6 +1 more	Copy number loss	not provided	GUncertain significance
Select item 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	GPathogenic
Select item 814147	GRCh37/hg19 1q25.3(chr1:180818504-181422323)x3	IER5, STX6 +3 more	Copy number gain	not provided	GLikely benign
Select item 814146	GRCh37/hg19 1q25.3(chr1:180586428-183178629)x3	RGS8, RGSL1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 780284	NM_001385161.1(MR1):c.162T>C (p.Pro54=)	MR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 685859	GRCh37/hg19 1q25.3(chr1:180651735-181064967)x3	IER5, KIAA1614 +3 more	Copy number gain	not provided	GUncertain significance
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
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 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 393869	GRCh37/hg19 1q25.2-25.3(chr1:179564752-183850820)x1	ACBD6, APOBEC4 +30 more	Copy number loss	See cases	GPathogenic
Select item 284841	NM_001385161.1(MR1):c.786G>A (p.Ala262=)	MR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic
Select item 252587	NM_001385161.1(MR1):c.380G>A (p.Ser127Asn)	MR1 (S127N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 226132	GRCh37/hg19 1q25.2-25.3(chr1:178806664-181082264)	TOR3A, TOR1AIP1 +19 more	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 129621	NM_001385161.1(MR1):c.138G>A (p.Ser46=)	MR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 129620	NM_001385161.1(MR1):c.116A>G (p.His39Arg)	MR1 (H39R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 64