"GeneDx"[submitter] AND "ARMC5"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 1311256	NM_001105247.2(ARMC5):c.439A>G (p.Thr147Ala)	ARMC5, LOC130058906 (T147A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364741	NM_001105247.2(ARMC5):c.481A>G (p.Ile161Val)	ARMC5 (I161V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372536	NM_001105247.2(ARMC5):c.1064T>A (p.Leu355Gln)	ARMC5 (L355Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451972	NM_001105247.2(ARMC5):c.1864+112G>A	ARMC5 (R659H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1303338	NM_001105247.2(ARMC5):c.2192C>G (p.Pro731Arg)	ARMC5 (P731R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1311199	NM_001105247.2(ARMC5):c.2294C>T (p.Ala765Val)	ARMC5 (A765V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1313711	NM_001105247.2(ARMC5):c.2312C>T (p.Ser771Phe)	ARMC5 (S771F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343087	NM_001105247.2(ARMC5):c.2333T>C (p.Leu778Pro)	ARMC5 (L778P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368670	NM_001105247.2(ARMC5):c.2408T>G (p.Val803Gly)	ARMC5 (V803G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance