ARMC6[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	LOC130063908, LOC130063909 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	LOC130064107, LOC130064108 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	ABHD8, ANKLE1 +625 more	Copy number gain	See cases	GPathogenic
Select item 2462945	NM_001199196.2(ARMC6):c.46G>A (p.Gly16Ser)	ARMC6 (G16S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397024	NM_001199196.2(ARMC6):c.77T>C (p.Met26Thr)	ARMC6 (M26T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513493	NM_001199196.2(ARMC6):c.121C>T (p.Arg41Cys)	ARMC6 (R16C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592642	NM_001199196.2(ARMC6):c.122G>A (p.Arg41His)	ARMC6 (R16H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468934	NM_001199196.2(ARMC6):c.191C>T (p.Ser64Leu)	ARMC6 (S39L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455377	NM_001199196.2(ARMC6):c.235G>C (p.Val79Leu)	ARMC6 (V54L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542575	NM_001199196.2(ARMC6):c.392C>T (p.Ala131Val)	ARMC6 (A106V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222716	NM_001199196.2(ARMC6):c.418A>G (p.Ile140Val)	ARMC6 (I115V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213532	NM_001199196.2(ARMC6):c.482C>T (p.Ala161Val)	ARMC6 (A161V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512149	NM_001199196.2(ARMC6):c.488C>T (p.Ser163Leu)	ARMC6 (S163L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301059	NM_001199196.2(ARMC6):c.637C>T (p.Arg213Trp)	ARMC6 (R188W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473842	NM_001199196.2(ARMC6):c.689C>T (p.Thr230Ile)	ARMC6 (T205I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378405	NM_001199196.2(ARMC6):c.704A>G (p.His235Arg)	ARMC6 (H235R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311287	NM_001199196.2(ARMC6):c.787C>A (p.His263Asn)	ARMC6 (H238N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211938	NM_001199196.2(ARMC6):c.814G>C (p.Glu272Gln)	ARMC6 (E272Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556999	NM_001199196.2(ARMC6):c.841G>A (p.Glu281Lys)	ARMC6 (E281K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610184	NM_001199196.2(ARMC6):c.868C>A (p.Pro290Thr)	ARMC6 (P265T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534802	NM_001199196.2(ARMC6):c.1097G>A (p.Arg366His)	ARMC6 (R341H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2463098	NM_001199196.2(ARMC6):c.1216C>T (p.Arg406Cys)	ARMC6 (R406C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357438	NM_001199196.2(ARMC6):c.1217G>A (p.Arg406His)	ARMC6 (R381H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260589	NM_001199196.2(ARMC6):c.1223T>A (p.Ile408Asn)	ARMC6 (I383N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252234	NM_001199196.2(ARMC6):c.1261A>G (p.Met421Val)	ARMC6 (M396V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369487	NM_001199196.2(ARMC6):c.1274C>T (p.Pro425Leu)	ARMC6 (P400L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218629	NM_001199196.2(ARMC6):c.1340C>T (p.Ala447Val)	ARMC6 (A422V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389539	NM_001199196.2(ARMC6):c.1386G>T (p.Met462Ile)	ARMC6 (M437I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349045	NM_001199196.2(ARMC6):c.1406G>A (p.Arg469His)	ARMC6 (R444H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623753	NM_001199196.2(ARMC6):c.1429G>T (p.Ala477Ser)	ARMC6 (A452S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ARMC6, ARRDC2 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 1443735	NC_000019.9:g.(?_18893725)_(19312528_?)del	ARMC6, BORCS8 +13 more	Deletion	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 37