ARMC10[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 57092	GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3	ALKBH4, ARMC10 +149 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 148748	GRCh38/hg38 7q22.1(chr7:102692380-103350914)x3	ARMC10, DNAJC2 +19 more	Copy number gain	See cases	GLikely benign
Select item 60283	GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1	ARMC10, ATXN7L1 +86 more	Copy number loss	See cases	GPathogenic
Select item 3129599	NM_031905.5(ARMC10):c.164A>T (p.Glu55Val)	ARMC10 (E55V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312014	NM_031905.5(ARMC10):c.226T>G (p.Ser76Ala)	ARMC10, LOC129999052 (S76A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213170	NM_031905.5(ARMC10):c.331C>T (p.Pro111Ser)	ARMC10 (P76S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287152	NM_031905.5(ARMC10):c.376G>C (p.Ala126Pro)	ARMC10 (A91P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251239	NM_031905.5(ARMC10):c.394G>T (p.Ala132Ser)	ARMC10 (A97S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472610	NM_031905.5(ARMC10):c.431C>G (p.Ala144Gly)	ARMC10 (A144G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2262014	NM_031905.5(ARMC10):c.443A>C (p.Asn148Thr)	ARMC10 (N148T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213608	NM_031905.5(ARMC10):c.448T>A (p.Ser150Thr)	ARMC10 (S115T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295546	NM_031905.5(ARMC10):c.547T>C (p.Cys183Arg)	ARMC10 (C183R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214291	NM_031905.5(ARMC10):c.592G>A (p.Ala198Thr)	ARMC10 (A198T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129601	NM_031905.5(ARMC10):c.610A>G (p.Thr204Ala)	ARMC10 (T204A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378512	NM_031905.5(ARMC10):c.611C>T (p.Thr204Ile)	ARMC10 (T169I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129602	NM_031905.5(ARMC10):c.616A>G (p.Met206Val)	ARMC10 (M171V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222672	NM_031905.5(ARMC10):c.623T>C (p.Val208Ala)	ARMC10 (V173A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248002	NM_031905.5(ARMC10):c.701C>T (p.Thr234Met)	ARMC10 (T199M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594466	NM_031905.5(ARMC10):c.745C>A (p.Pro249Thr)	ARMC10 (P190T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324512	NM_031905.5(ARMC10):c.752T>C (p.Met251Thr)	ARMC10 (M157T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129603	NM_031905.5(ARMC10):c.783T>A (p.Asp261Glu)	ARMC10 (D143E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129604	NM_031905.5(ARMC10):c.893C>G (p.Ala298Gly)	ARMC10 (A180G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129605	NM_031905.5(ARMC10):c.899A>C (p.Gln300Pro)	ARMC10 (Q241P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360831	NM_031905.5(ARMC10):c.1006G>A (p.Val336Ile)	ARMC10 (V242I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685259	GRCh37/hg19 7q22.1(chr7:102138955-102744237)x1	NFE4, POLR2J2 +11 more	Copy number loss	not provided	GUncertain significance
Select item 2684499	GRCh37/hg19 7q22.1(chr7:102668567-103242665)x3	ARMC10, DNAJC2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 815012	GRCh37/hg19 7q22.1(chr7:102333441-102969517)x3	ARMC10, NFE4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686718	GRCh37/hg19 7q22.1(chr7:102333119-103158261)x3	ARMC10, DNAJC2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 42