ARV1[gene] and "single gene"[properties] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3354785	NM_022786.3(ARV1):c.283A>C (p.Thr95Pro)	ARV1 (T95P)	Single nucleotide variant (missense variant +1 more)	ARV1-related disorder	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)	not provided	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)	not provided	GBenign
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	GUncertain significance
Select item 524174	t(1;3)(q44;p25)dn	ARV1	Translocation	not specified	GUncertain significance

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Items: 42