ARMC7[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 3315711	NM_024585.4(ARMC7):c.23A>G (p.Asp8Gly)	ARMC7 (D8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568477	NM_024585.4(ARMC7):c.35G>A (p.Gly12Glu)	ARMC7 (G12E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214152	NM_024585.4(ARMC7):c.53A>G (p.Gln18Arg)	ARMC7 (Q18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129670	NM_024585.4(ARMC7):c.56C>A (p.Ala19Glu)	ARMC7 (A19E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315728	NM_024585.4(ARMC7):c.125A>G (p.Asn42Ser)	ARMC7 (N42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374968	NM_024585.4(ARMC7):c.151G>C (p.Glu51Gln)	ARMC7 (E51Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2291270	NM_024585.4(ARMC7):c.298G>A (p.Val100Ile)	ARMC7 (V100I)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3315718	NM_024585.4(ARMC7):c.322T>G (p.Ser108Ala)	ARMC7 (Y86* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 2297358	NM_024585.4(ARMC7):c.332A>G (p.Asn111Ser)	ARMC7 (M90V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361536	NM_024585.4(ARMC7):c.380C>T (p.Pro127Leu)	ARMC7 (P127L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2474856	NM_024585.4(ARMC7):c.440G>A (p.Arg147His)	ARMC7 (R147H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2476184	NM_024585.4(ARMC7):c.465G>C (p.Arg155Ser)	ARMC7 (R155S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2386287	NM_024585.4(ARMC7):c.536G>A (p.Arg179Gln)	ARMC7 (R179Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2467264	NM_024585.4(ARMC7):c.593G>A (p.Arg198His)	ARMC7 (R198H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3063507	GRCh37/hg19 17q25.1(chr17:72875847-73484159)x3	ARMC7, ATP5PD +19 more	Copy number gain	not specified	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2498731	GRCh37/hg19 17q25.1(chr17:72864876-73328878)x1	ARMC7, ATP5PD +19 more	Copy number loss	not provided	GUncertain significance
Select item 1526586	GRCh37/hg19 17q25.1(chr17:73049227-73533226)	ARMC7, CASKIN2 +14 more	Copy number loss	not specified	GUncertain significance
Select item 1340452	GRCh37/hg19 17q25.1(chr17:73045938-73310951)x3	ARMC7, GGA3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 815951	GRCh37/hg19 17q25.1(chr17:72945415-73414786)x3	ARMC7, ATP5PD +15 more	Copy number gain	not provided	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 625759	GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266)	BTBD17, ARMC7 +40 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564472	GRCh37/hg19 17q25.1(chr17:73057756-73429731)x3	ARMC7, GGA3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 564471	GRCh37/hg19 17q25.1(chr17:72962625-73281784)x3	ARMC7, ATP5PD +13 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 493579	GRCh37/hg19 17q25.1(chr17:72901452-73518861)x3	ARMC7, ATP5PD +20 more	Copy number gain	not provided	GUncertain significance
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 33