270[HGNC] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
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 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 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 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	ABCB10, ACBD3 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 3304348	NM_001618.4(PARP1):c.2945C>G (p.Thr982Ser)	PARP1 (T982S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058577	NM_001618.4(PARP1):c.2916G>A (p.Gly972=)	PARP1	Single nucleotide variant (synonymous variant)	PARP1-related disorder	GLikely benign
Select item 3208672	NM_001618.4(PARP1):c.2897G>A (p.Gly966Asp)	PARP1 (G966D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041509	NM_001618.4(PARP1):c.2819A>G (p.Lys940Arg)	PARP1 (K940R)	Single nucleotide variant (missense variant)	PARP1-related disorder	GBenign
Select item 3208671	NM_001618.4(PARP1):c.2741A>G (p.Asp914Gly)	PARP1 (D914G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282750	NM_001618.4(PARP1):c.2599A>C (p.Thr867Pro)	PARP1 (T867P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040063	NM_001618.4(PARP1):c.2593A>C (p.Arg865=)	PARP1	Single nucleotide variant (synonymous variant)	PARP1-related disorder	GLikely benign
Select item 3304345	NM_001618.4(PARP1):c.2444G>A (p.Arg815Lys)	PARP1 (R815K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285831	NM_001618.4(PARP1):c.2342G>A (p.Gly781Glu)	PARP1 (G781E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1261945	NM_001618.4(PARP1):c.2285T>C (p.Val762Ala)	PARP1 (V762A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 725858	NM_001618.4(PARP1):c.2250G>A (p.Pro750=)	PARP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2598988	NM_001618.4(PARP1):c.2204G>A (p.Arg735His)	PARP1 (R735H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527729	NM_001618.4(PARP1):c.2176G>A (p.Asp726Asn)	PARP1 (D726N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208670	NM_001618.4(PARP1):c.2161T>C (p.Ser721Pro)	PARP1 (S721P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304346	NM_001618.4(PARP1):c.2098A>C (p.Lys700Gln)	LOC129932646, PARP1 (K700Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711740	NM_001618.4(PARP1):c.1914C>T (p.Phe638=)	PARP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2205462	NM_001618.4(PARP1):c.1842C>A (p.Phe614Leu)	PARP1 (F614L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205461	NM_001618.4(PARP1):c.1840T>C (p.Phe614Leu)	PARP1 (F614L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304347	NM_001618.4(PARP1):c.1793G>A (p.Ser598Asn)	PARP1 (S598N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208669	NM_001618.4(PARP1):c.1792A>G (p.Ser598Gly)	PARP1 (S598G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208668	NM_001618.4(PARP1):c.1747T>C (p.Tyr583His)	PARP1 (Y583H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319151	NM_001618.4(PARP1):c.1709A>G (p.Tyr570Cys)	LOC126806035, PARP1 (Y570C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049450	NM_001618.4(PARP1):c.1629G>A (p.Ala543=)	LOC126806035, PARP1	Single nucleotide variant (synonymous variant)	PARP1-related disorder	GBenign
Select item 3208667	NM_001618.4(PARP1):c.1442G>T (p.Trp481Leu)	LOC126806035, PARP1 (W481L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508153	NM_001618.4(PARP1):c.1390G>T (p.Ala464Ser)	LOC126806035, PARP1 (A464S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639969	NM_001618.4(PARP1):c.1374C>T (p.Phe458=)	LOC126806035, PARP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3057382	NM_001618.4(PARP1):c.1371C>T (p.Asp457=)	LOC126806035, PARP1	Single nucleotide variant (synonymous variant)	PARP1-related disorder	GLikely benign
Select item 3208665	NM_001618.4(PARP1):c.1354C>A (p.Arg452=)	LOC126806035, PARP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3304344	NM_001618.4(PARP1):c.1271A>G (p.Asn424Ser)	PARP1 (N424S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780306	NM_001618.4(PARP1):c.1245C>T (p.Leu415=)	PARP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2270980	NM_001618.4(PARP1):c.1231A>G (p.Met411Val)	PARP1 (M411V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263390	NM_001618.4(PARP1):c.1190C>T (p.Thr397Ile)	PARP1 (T397I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320838	NM_001618.4(PARP1):c.1178T>C (p.Met393Thr)	PARP1 (M393T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286796	NM_001618.4(PARP1):c.1151C>T (p.Ala384Val)	PARP1 (A384V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039691	NM_001618.4(PARP1):c.1148C>A (p.Ser383Tyr)	PARP1 (S383Y)	Single nucleotide variant (missense variant)	PARP1-related disorder	GLikely benign
Select item 722614	NM_001618.4(PARP1):c.1146C>G (p.Ser382=)	PARP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 779066	NM_001618.4(PARP1):c.1129C>T (p.Pro377Ser)	PARP1 (P377S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2509307	NM_001618.4(PARP1):c.1114T>C (p.Ser372Pro)	PARP1 (S372P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487760	NM_001618.4(PARP1):c.1019G>A (p.Arg340Gln)	PARP1 (R340Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737642	NM_001618.4(PARP1):c.1000G>A (p.Val334Ile)	PARP1 (V334I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 715247	NM_001618.4(PARP1):c.942C>T (p.Asp314=)	PARP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2328794	NM_001618.4(PARP1):c.886G>A (p.Glu296Lys)	PARP1 (E296K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3304349	NM_001618.4(PARP1):c.859A>G (p.Met287Val)	PARP1 (M287V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272498	NM_001618.4(PARP1):c.845G>A (p.Arg282Gln)	PARP1 (R282Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034622	NM_001618.4(PARP1):c.659C>T (p.Ala220Val)	PARP1 (A220V)	Single nucleotide variant (missense variant)	PARP1-related disorder	GLikely benign
Select item 3045973	NM_001618.4(PARP1):c.656T>C (p.Val219Ala)	PARP1 (V219A)	Single nucleotide variant (missense variant)	PARP1-related disorder	GLikely benign
Select item 3208674	NM_001618.4(PARP1):c.563C>T (p.Ala188Val)	PARP1 (A188V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775674	NM_001618.4(PARP1):c.562G>A (p.Ala188Thr)	PARP1 (A188T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2305903	NM_001618.4(PARP1):c.554G>A (p.Ser185Asn)	PARP1 (S185N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519170	NM_001618.4(PARP1):c.521C>G (p.Pro174Arg)	PARP1 (P174R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216601	NM_001618.4(PARP1):c.482G>T (p.Gly161Val)	PARP1 (G161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263329	NM_001618.4(PARP1):c.472T>C (p.Tyr158His)	PARP1 (Y158H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411502	NM_001618.4(PARP1):c.467G>A (p.Arg156His)	PARP1 (R156H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477383	NM_001618.4(PARP1):c.437C>T (p.Pro146Leu)	PARP1 (P146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296528	NM_001618.4(PARP1):c.427A>G (p.Met143Val)	PARP1 (M143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 496816	NM_001618.4(PARP1):c.370A>G (p.Thr124Ala)	PARP1 (T124A)	Single nucleotide variant (missense variant)	Hereditary renal cell carcinoma	GUncertain significance
Select item 725933	NM_001618.4(PARP1):c.339T>C (p.Phe113=)	PARP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3059377	NM_001618.4(PARP1):c.287-6C>A	PARP1	Single nucleotide variant (intron variant)	PARP1-related disorder	GBenign
Select item 2254608	NM_001618.4(PARP1):c.159C>A (p.His53Gln)	PARP1 (H53Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 761542	NM_001618.4(PARP1):c.121-4C>G	PARP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239654	NM_001618.4(PARP1):c.120+96GGGCCC[3]	LOC129932650, PARP1	Microsatellite (intron variant)	not provided	GBenign
Select item 2518222	NM_001618.4(PARP1):c.97C>T (p.Leu33Phe)	PARP1 (L33F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035978	NM_001618.4(PARP1):c.14C>G (p.Ser5Trp)	PARP1 (S5W)	Single nucleotide variant (missense variant)	PARP1-related disorder	GLikely benign
Select item 3247986	NC_000001.10:g.(?_225591005)_(227174438_?)del	ACBD3, COQ8A +16 more	Deletion	not provided	GPathogenic
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 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 1527592	GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)	ABCB10, ACBD3 +55 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527559	GRCh37/hg19 1q41-42.13(chr1:221303919-227461343)	ACBD3, AIDA +38 more	Copy number gain	not specified	GPathogenic
Select item 1410588	NC_000001.10:g.(?_225591005)_(227174438_?)dup	ACBD3, COQ8A +16 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 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 814171	GRCh37/hg19 1q42.12(chr1:226064744-226924455)x3	ITPKB, ACBD3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814166	GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1	PSEN2, FBXO28 +42 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
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 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 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: 100