6647[HGNC] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC120893174, LOC122149340 +166 more	Copy number loss	See cases	GPathogenic
Select item 57818	GRCh38/hg38 1q32.1(chr1:201226425-202014204)x3	CSRP1, CSRP1-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 1174832	NM_012134.3(LMOD1):c.1769T>C (p.Leu590Pro)	LMOD1 (L590P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2405679	NM_012134.3(LMOD1):c.1699C>T (p.Leu567Phe)	LMOD1 (L567F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519508	NM_012134.3(LMOD1):c.1676A>G (p.Gln559Arg)	LMOD1 (Q559R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1299860	NM_012134.3(LMOD1):c.1631C>A (p.Pro544His)	LMOD1 (P544H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 743620	NM_012134.3(LMOD1):c.1527A>G (p.Pro509=)	LMOD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2588208	NM_012134.3(LMOD1):c.1504G>A (p.Gly502Arg)	LMOD1 (G502R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119383	NM_012134.3(LMOD1):c.1492G>T (p.Val498Leu)	LMOD1 (V498L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709014	NM_012134.3(LMOD1):c.1474AAG[1] (p.Lys493del)	LMOD1 (K493del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 3064415	NM_012134.3(LMOD1):c.1433G>A (p.Arg478Gln)	LMOD1 (R478Q)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 3	GUncertain significance
Select item 3290991	NM_012134.3(LMOD1):c.1430A>C (p.Lys477Thr)	LMOD1 (K477T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283573	NM_012134.3(LMOD1):c.1422G>C (p.Gln474His)	LMOD1 (Q474H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3340455	NM_012134.3(LMOD1):c.1289G>A (p.Gly430Glu)	LMOD1 (G430E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1172757	NM_012134.3(LMOD1):c.1262G>A (p.Arg421His)	LMOD1 (R421H)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 3	GPathogenic
Select item 2521040	NM_012134.3(LMOD1):c.1225C>T (p.Arg409Trp)	LMOD1 (R409W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709587	NM_012134.3(LMOD1):c.1113C>T (p.Ala371=)	LMOD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 264986	NM_012134.3(LMOD1):c.1108C>T (p.Arg370Ter)	LMOD1 (R370*)	Single nucleotide variant (nonsense)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 +1 more	GPathogenic
Select item 1172756	NM_012134.3(LMOD1):c.1106C>T (p.Thr369Met)	LMOD1 (T369M)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 3	GPathogenic
Select item 2528396	NM_012134.3(LMOD1):c.1039A>T (p.Ile347Phe)	LMOD1 (I347F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119382	NM_012134.3(LMOD1):c.1009G>A (p.Val337Ile)	LMOD1 (V337I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119390	NM_012134.3(LMOD1):c.997A>G (p.Thr333Ala)	LMOD1 (T333A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493862	NM_012134.3(LMOD1):c.995T>C (p.Met332Thr)	LMOD1 (M332T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119389	NM_012134.3(LMOD1):c.991G>A (p.Glu331Lys)	LMOD1 (E331K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119388	NM_012134.3(LMOD1):c.883A>T (p.Thr295Ser)	LMOD1 (T295S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747401	NM_012134.3(LMOD1):c.828C>T (p.Pro276=)	LMOD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3119387	NM_012134.3(LMOD1):c.695C>T (p.Thr232Ile)	LMOD1 (T232I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352436	NM_012134.3(LMOD1):c.680G>A (p.Arg227His)	LMOD1 (R227H)	Single nucleotide variant (missense variant)	LMOD1-related condition	GLikely benign
Select item 2457908	NM_012134.3(LMOD1):c.607G>C (p.Asp203His)	LMOD1 (D203H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363193	NM_012134.3(LMOD1):c.578G>A (p.Gly193Glu)	LMOD1 (G193E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267344	NM_012134.3(LMOD1):c.520A>G (p.Lys174Glu)	LMOD1 (K174E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119386	NM_012134.3(LMOD1):c.499G>C (p.Val167Leu)	LMOD1 (V167L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119385	NM_012134.3(LMOD1):c.466C>T (p.Arg156Trp)	LMOD1 (R156W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465286	NM_012134.3(LMOD1):c.461T>A (p.Ile154Asn)	LMOD1 (I154N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249543	NM_012134.3(LMOD1):c.439G>A (p.Glu147Lys)	LMOD1 (E147K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775153	NM_012134.3(LMOD1):c.425G>A (p.Gly142Asp)	LMOD1 (G142D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3119384	NM_012134.3(LMOD1):c.417T>A (p.Asp139Glu)	LMOD1 (D139E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2229369	NM_012134.3(LMOD1):c.408A>C (p.Arg136Ser)	LMOD1 (R136S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752282	NM_012134.3(LMOD1):c.405T>C (p.Ser135=)	LMOD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622750	NM_012134.3(LMOD1):c.401T>G (p.Phe134Cys)	LMOD1 (F134C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1284972	NM_012134.3(LMOD1):c.349C>T (p.Arg117Trp)	LMOD1 (R117W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710499	NM_012134.3(LMOD1):c.342C>T (p.Gly114=)	LMOD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1297910	NM_012134.3(LMOD1):c.262-16891del	LMOD1	Deletion (intron variant)	not provided	GBenign
Select item 2359615	NM_012134.3(LMOD1):c.210C>G (p.Asn70Lys)	LMOD1 (N70K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215015	NM_012134.3(LMOD1):c.175T>C (p.Ser59Pro)	LMOD1 (S59P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 795802	NM_012134.3(LMOD1):c.150G>A (p.Arg50=)	LMOD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2611147	NM_012134.3(LMOD1):c.145C>A (p.Leu49Met)	LMOD1 (L49M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065391	NM_012134.3(LMOD1):c.139G>A (p.Val47Met)	LMOD1 (V47M)	Single nucleotide variant (missense variant)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 3	GUncertain significance
Select item 721653	NM_012134.3(LMOD1):c.139G>T (p.Val47Leu)	LMOD1 (V47L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 709031	NM_012134.3(LMOD1):c.133G>A (p.Val45Ile)	LMOD1 (V45I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565211	GRCh37/hg19 1q32.1(chr1:200873507-201947585)x3	ASCL5, CACNA1S +15 more	Copy number gain	not provided	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 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

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Items: 66