ClinVar for Gene (Select 57111) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312117	NM_020387.4(RAB25):c.589G>C (p.Ala197Pro)	RAB25 (A197P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312116	NM_020387.4(RAB25):c.352A>T (p.Ile118Phe)	RAB25 (I118F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312115	NM_020387.4(RAB25):c.236C>T (p.Ser79Leu)	RAB25 (S79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312114	NM_020387.4(RAB25):c.44T>C (p.Val15Ala)	RAB25 (V15A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3234162	NM_020387.4(RAB25):c.59A>G (p.Glu20Gly)	RAB25 (E20G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3150646	NM_020387.4(RAB25):c.5G>A (p.Gly2Glu)	RAB25 (G2E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150645	NM_020387.4(RAB25):c.544C>G (p.Gln182Glu)	RAB25 (Q182E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150644	NM_020387.4(RAB25):c.501G>C (p.Glu167Asp)	RAB25 (E167D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150643	NM_020387.4(RAB25):c.224G>A (p.Arg75Gln)	RAB25 (R75Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150642	NM_020387.4(RAB25):c.19G>A (p.Glu7Lys)	RAB25 (E7K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062600	GRCh37/hg19 1q22(chr1:155902621-156207096)x3	ARHGEF2, KHDC4 +11 more	Copy number gain	not specified	GUncertain significance
Select item 2685831	GRCh37/hg19 1q22(chr1:155864518-156213257)x3	ARHGEF2, BGLAP +14 more	Copy number gain	not provided	GUncertain significance
Select item 2590029	NM_020387.4(RAB25):c.524C>A (p.Ala175Glu)	RAB25 (A175E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2543898	NM_020387.4(RAB25):c.536A>G (p.Lys179Arg)	RAB25 (K179R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513057	NM_020387.4(RAB25):c.26A>G (p.Tyr9Cys)	RAB25 (Y9C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466963	NM_020387.4(RAB25):c.106G>A (p.Glu36Lys)	RAB25 (E36K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392471	NM_020387.4(RAB25):c.272T>G (p.Val91Gly)	RAB25 (V91G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339332	NM_020387.4(RAB25):c.418G>T (p.Ala140Ser)	RAB25 (A140S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322905	NM_020387.4(RAB25):c.152C>T (p.Thr51Ile)	RAB25 (T51I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319692	NM_020387.4(RAB25):c.236C>G (p.Ser79Trp)	RAB25 (S79W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304061	NM_020387.4(RAB25):c.155G>A (p.Arg52His)	RAB25 (R52H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279807	NM_020387.4(RAB25):c.398G>A (p.Arg133Gln)	RAB25 (R133Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239641	NM_020387.4(RAB25):c.451T>C (p.Phe151Leu)	RAB25 (F151L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223029	NM_020387.4(RAB25):c.350C>T (p.Thr117Met)	RAB25 (T117M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808454	GRCh37/hg19 1q22(chr1:155489474-156196407)x3	ARHGEF2, ASH1L +18 more	Copy number gain	not provided	GUncertain significance
Select item 1527315	GRCh37/hg19 1q22(chr1:156034721-156240338)	BGLAP, SEMA4A +8 more	Copy number gain	not specified	GUncertain significance
Select item 1527304	GRCh37/hg19 1q22(chr1:155902781-156210031)	PMF1-BGLAP, SLC25A44 +11 more	Copy number gain	not specified	GUncertain significance
Select item 1527293	GRCh37/hg19 1q22(chr1:155616264-156059947)	ARHGEF2, DAP3 +12 more	Copy number loss	not specified	GUncertain significance
Select item 1460461	NC_000001.10:g.(?_155581953)_(156851434_?)del	ARHGEF2, BCAN +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CRTC2, KHDC4 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1444536	NC_000001.10:g.(?_155870179)_(156146788_?)dup	ARHGEF2, KHDC4 +9 more	Duplication	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688120	GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3	ARHGEF2, BCAN +33 more	Copy number gain	not provided	GUncertain significance
Select item 685546	GRCh37/hg19 1q22(chr1:156037369-156463980)x3	BGLAP, CCT3 +17 more	Copy number gain	not provided	GUncertain significance
Select item 660674	NC_000001.10:g.(?_155870169)_(156108907_?)dup	ARHGEF2-AS2, KHDC4 +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 565184	GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3	BCAN, BGLAP +35 more	Copy number gain	not provided	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 477767	NC_000001.10:g.(?_155880221)_(156109650_?)del	ARHGEF2, KHDC4 +8 more	Deletion	Noonan syndrome 8	GUncertain significance
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 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 149955	GRCh38/hg38 1q22(chr1:155834419-156434205)x3	ARHGEF2, ARHGEF2-AS2 +90 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 51