Related gene-specific medical variations for Gene (Select 64801) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 2473859	NM_022786.3(ARV1):c.148del (p.His50fs)	ARV1, LOC129932761 (H50fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
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 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 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 996783	NM_022786.3(ARV1):c.309_310del (p.Cys104fs)	ARV1 (C104fs)	Microsatellite (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 843659	NM_022786.3(ARV1):c.101G>A (p.Cys34Tyr)	LOC129932761, ARV1 (C34Y)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 38 +1 more	GUncertain significance
Select item 777986	NM_022786.3(ARV1):c.64A>T (p.Thr22Ser)	ARV1, LOC129932761 (T22S)	Single nucleotide variant (missense variant +1 more)	not specified +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)	ARV1-related disorder +1 more	GLikely benign
Select item 524174	t(1;3)(q44;p25)dn	ARV1	Translocation	not specified	GUncertain significance
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