LOC129932761[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932646, LOC129932647 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932948, LOC129932949 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC129932666, LOC129932667 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC128772241, LOC128772242 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	SCCPDH, SDCCAG8 +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932613, LOC129932614 +949 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC129932859, LOC129932860 +869 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	LOC129932775, LOC129932776 +655 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)	not provided +1 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)	LOC129932761, ARV1 (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

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Items: 31