64801[geneid] - 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 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 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 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 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57819	GRCh38/hg38 1q42.13-42.2(chr1:229883805-231517553)x3	AGT, ARV1 +66 more	Copy number gain	See cases	GUncertain significance
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 57820	GRCh38/hg38 1q42.13-42.2(chr1:230489657-231243203)x3	AGT, ARV1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 161003	GRCh38/hg38 1q42.2(chr1:230519755-231232066)x3	AGT, ARV1 +34 more	Copy number gain	See cases	GUncertain significance
Select item 32991	GRCh38/hg38 1q42.2(chr1:230519755-231232066)x3	AGT, ARV1 +34 more	Copy number gain	See cases	GUncertain significance
Select item 144135	GRCh38/hg38 1q42.2(chr1:230749331-231192557)x1	ARV1, C1orf198 +22 more	Copy number loss	See cases	GUncertain significance
Select item 1339604	NM_022786.3(ARV1):c.2T>C (p.Met1Thr)	ARV1, LOC129932761 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 3053876	NM_022786.3(ARV1):c.9C>T (p.Asn3=)	ARV1, LOC129932761	Single nucleotide variant (synonymous variant +1 more)	ARV1-related disorder	GLikely benign
Select item 1034010	NM_022786.3(ARV1):c.29A>G (p.Gln10Arg)	ARV1, LOC129932761 (Q10R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 38	GUncertain significance
Select item 2608649	NM_022786.3(ARV1):c.49G>A (p.Asp17Asn)	ARV1, LOC129932761 (D17N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 777986	NM_022786.3(ARV1):c.64A>T (p.Thr22Ser)	ARV1, LOC129932761 (T22S)	Single nucleotide variant (missense variant +1 more)	ARV1-related disorder +2 more	GBenign/Likely benign
Select item 734292	NM_022786.3(ARV1):c.73G>T (p.Ala25Ser)	ARV1, LOC129932761 (A25S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 2640073	NM_022786.3(ARV1):c.81G>T (p.Ser27=)	ARV1, LOC129932761	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 445383	NM_022786.3(ARV1):c.94T>C (p.Tyr32His)	ARV1, LOC129932761 (Y32H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 843659	NM_022786.3(ARV1):c.101G>A (p.Cys34Tyr)	ARV1, LOC129932761 (C34Y)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 38 +1 more	GUncertain significance
Select item 3129975	NM_022786.3(ARV1):c.125A>G (p.Lys42Arg)	ARV1, LOC129932761 (K42R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473859	NM_022786.3(ARV1):c.148del (p.His50fs)	ARV1, LOC129932761 (H50fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1192479	NM_022786.3(ARV1):c.175-11T>C	ARV1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 38 +1 more	GBenign
Select item 738503	NM_022786.3(ARV1):c.175-10A>C	ARV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1343148	NM_022786.3(ARV1):c.175-3_175-2inv	ARV1	Inversion (splice acceptor variant)	Developmental and epileptic encephalopathy, 38	GPathogenic
Select item 1028780	NM_022786.3(ARV1):c.175-2A>G	ARV1	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 38	GLikely pathogenic
Select item 3129976	NM_022786.3(ARV1):c.179C>A (p.Ser60Tyr)	ARV1 (S60Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2640074	NM_022786.3(ARV1):c.214G>A (p.Asp72Asn)	ARV1 (D72N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2538796	NM_022786.3(ARV1):c.217C>T (p.Pro73Ser)	ARV1 (P73S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 982891	NM_022786.3(ARV1):c.292_294+1del	ARV1	Deletion (splice donor variant)	Developmental and epileptic encephalopathy, 38	GUncertain significance
Select item 224496	NM_022786.3(ARV1):c.294+1G>A	ARV1	Single nucleotide variant (splice donor variant)	ARV1-related disorder	GPathogenic
Select item 2640075	NM_022786.3(ARV1):c.295-5A>G	ARV1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 789436	NM_022786.3(ARV1):c.302G>A (p.Gly101Glu)	ARV1 (G101E)	Single nucleotide variant (missense variant +1 more)	ARV1-related disorder +1 more	GBenign
Select item 996783	NM_022786.3(ARV1):c.309_310del (p.Cys104fs)	ARV1 (C104fs)	Microsatellite (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3129977	NM_022786.3(ARV1):c.354G>C (p.Gln118His)	ARV1 (Q118H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 725106	NM_022786.3(ARV1):c.360A>G (p.Gln120=)	ARV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 982604	NM_022786.3(ARV1):c.363_364del (p.Ser122fs)	ARV1 (S122fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 38	GLikely pathogenic
Select item 1066297	NM_022786.3(ARV1):c.448+1G>T	ARV1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2495942	NM_022786.3(ARV1):c.475T>A (p.Phe159Ile)	ARV1 (F159I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247742	NM_022786.3(ARV1):c.502A>G (p.Met168Val)	ARV1 (M168V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 839151	NM_022786.3(ARV1):c.518dup (p.Pro174fs)	ARV1 (P207fs +1 more)	Duplication (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 38 +1 more	GPathogenic/Likely pathogenic
Select item 2446533	NM_022786.3(ARV1):c.518del (p.Lys173fs)	ARV1 (K173fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 817303	NM_022786.3(ARV1):c.517_518insC (p.Lys173fs)	ARV1 (K173fs +1 more)	Insertion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 742517	NM_022786.3(ARV1):c.528C>T (p.Phe176=)	ARV1	Single nucleotide variant (synonymous variant +1 more)	ARV1-related disorder +1 more	GBenign/Likely benign
Select item 3129978	NM_022786.3(ARV1):c.545C>T (p.Ala182Val)	ARV1 (A215V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 183341	NM_022786.3(ARV1):c.565G>A (p.Gly189Arg)	ARV1 (G189R +1 more)	Single nucleotide variant (missense variant +1 more)	Abnormality of the nervous system	GLikely pathogenic
Select item 1878578	NM_022786.3(ARV1):c.573_574del (p.Leu192fs)	ARV1 (L192fs +1 more)	Microsatellite (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 38	GLikely pathogenic
Select item 2663891	NM_022786.3(ARV1):c.594_595del (p.Ile198fs)	ARV1 (I198fs +1 more)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 38	GLikely pathogenic
Select item 2324560	NM_022786.3(ARV1):c.646C>T (p.Leu216Phe)	ARV1 (L216F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3129979	NM_022786.3(ARV1):c.655A>G (p.Asn219Asp)	ARV1 (N219D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3026922	NM_022786.3(ARV1):c.655A>C (p.Asn219His)	ARV1 (N219H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 429868	NM_022786.3(ARV1):c.656A>C (p.Asn219Thr)	ARV1 (N219T +1 more)	Single nucleotide variant (missense variant +1 more)	See cases +2 more	GUncertain significance
Select item 2334749	NM_022786.3(ARV1):c.667A>G (p.Ile223Val)	ARV1 (I256V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 520804	NM_022786.3(ARV1):c.674-2A>T	ARV1	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 38 +1 more	GConflicting classifications of pathogenicity
Select item 2439213	NM_022786.3(ARV1):c.691C>T (p.Arg231Cys)	ARV1 (R231C +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 38	GUncertain significance
Select item 3129980	NM_022786.3(ARV1):c.692G>A (p.Arg231His)	ARV1 (R231H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620956	NM_022786.3(ARV1):c.712G>A (p.Val238Met)	ARV1 (V271M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1176857	NM_022786.3(ARV1):c.732G>A (p.Leu244=)	ARV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1708831	NM_022786.3(ARV1):c.746T>A (p.Val249Asp)	ARV1 (V249D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3129981	NM_022786.3(ARV1):c.759G>C (p.Gln253His)	ARV1 (Q253H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3129982	NM_022786.3(ARV1):c.761G>A (p.Ser254Asn)	ARV1 (S254N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2580659	NM_022786.3(ARV1):c.*4+1G>A	ARV1	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2685865	GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1	ACTN2, AGT +45 more	Copy number loss	not provided	GPathogenic
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2425915	NC_000001.10:g.(?_229567246)_(231413288_?)del	ABCB10, ACTA1 +15 more	Deletion	not provided	GPathogenic
Select item 2425124	NC_000001.10:g.(?_230203028)_(231413288_?)del	AGT, ARV1 +10 more	Deletion	Congenital disorder of glycosylation, type IIq	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 1809445	GRCh37/hg19 1q42.2(chr1:231126647-231194176)x1	ARV1, FAM89A	Copy number loss	not provided	GUncertain significance
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	ABCB10, ACTA1 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527603	GRCh37/hg19 1q42.13-42.2(chr1:228214912-231483538)	ABCB10, ACTA1 +36 more	Copy number loss	not specified	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 1411795	NC_000001.10:g.(?_229567246)_(232172577_?)dup	ABCB10, ACTA1 +21 more	Duplication	Actin accumulation myopathy	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 814177	GRCh37/hg19 1q42.13-42.2(chr1:230616084-231410027)x3	COG2, FAM89A +8 more	Copy number gain	not provided	GUncertain significance
Select item 814175	GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3	ERO1B, EXOC8 +59 more	Copy number gain	not provided	GPathogenic
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 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 686696	GRCh37/hg19 1q42.2(chr1:230921930-231387086)x3	ARV1, C1orf131 +6 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 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 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 524174	t(1;3)(q44;p25)dn	ARV1	Translocation	not specified	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 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 441681	GRCh37/hg19 1q42.13-42.2(chr1:230619349-231413907)x3	AGT, ARV1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic

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Items: 100