LOC130058906[gene] - ClinVar

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Items: 26

	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 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic
Select item 756155	NM_001105247.2(ARMC5):c.177G>A (p.Glu59=)	ARMC5, LOC130058906	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620252	NM_001105247.2(ARMC5):c.193G>A (p.Gly65Ser)	ARMC5, LOC130058906 (G97S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129656	NM_001105247.2(ARMC5):c.202C>T (p.Arg68Cys)	ARMC5, LOC130058906 (R68C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032298	NM_001105247.2(ARMC5):c.237A>G (p.Ala79=)	ARMC5, LOC130058906	Single nucleotide variant (synonymous variant)	ARMC5-related disorder	GLikely benign
Select item 2481535	NM_001105247.2(ARMC5):c.239C>T (p.Ala80Val)	ARMC5, LOC130058906 (A112V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 144054	NM_001105247.2(ARMC5):c.256C>T (p.Gln86Ter)	ARMC5, LOC130058906 (Q86* +2 more)	Single nucleotide variant (nonsense)	ACTH-independent macronodular adrenal hyperplasia 2	GPathogenic
Select item 3052195	NM_001105247.2(ARMC5):c.257A>T (p.Gln86Leu)	ARMC5, LOC130058906 (Q118L +2 more)	Single nucleotide variant (missense variant)	ARMC5-related disorder	GLikely benign
Select item 3036142	NM_001105247.2(ARMC5):c.282G>C (p.Ser94=)	ARMC5, LOC130058906	Single nucleotide variant (synonymous variant)	ARMC5-related disorder	GLikely benign
Select item 1341364	NM_001105247.2(ARMC5):c.283_286del (p.Ser95fs)	ARMC5, LOC130058906 (S127fs +2 more)	Deletion (frameshift variant)	ACTH-independent macronodular adrenal hyperplasia 2	GPathogenic
Select item 732497	NM_001105247.2(ARMC5):c.288C>G (p.Ala96=)	ARMC5, LOC130058906	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2477494	NM_001105247.2(ARMC5):c.289G>A (p.Ala97Thr)	ARMC5, LOC130058906 (A129T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715819	NM_001105247.2(ARMC5):c.294G>T (p.Ser98=)	ARMC5, LOC130058906	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3129658	NM_001105247.2(ARMC5):c.308C>T (p.Pro103Leu)	ARMC5, LOC130058906 (P198L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031151	NM_001105247.2(ARMC5):c.327dup (p.Ala110fs)	ARMC5, LOC130058906 (A110fs +2 more)	Duplication (frameshift variant)	ARMC5-related disorder	GPathogenic
Select item 732540	NM_001105247.2(ARMC5):c.328G>A (p.Ala110Thr)	ARMC5, LOC130058906 (A205T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1803110	NM_001105247.2(ARMC5):c.337_338dup (p.Val114fs)	ARMC5, LOC130058906 (V114fs +2 more)	Duplication (frameshift variant)	ACTH-independent macronodular adrenal hyperplasia 2	GPathogenic
Select item 2391346	NM_001105247.2(ARMC5):c.392T>G (p.Leu131Trp)	ARMC5, LOC130058906 (L131W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3348188	NM_001105247.2(ARMC5):c.398T>C (p.Leu133Pro)	ARMC5, LOC130058906 (L133P +2 more)	Single nucleotide variant (missense variant)	ARMC5-related disorder	GUncertain significance
Select item 2672631	NM_001105247.2(ARMC5):c.432G>T (p.Ala144=)	ARMC5, LOC130058906	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2262241	NM_001105247.2(ARMC5):c.433T>A (p.Cys145Ser)	ARMC5, LOC130058906 (C145S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783738	NM_001105247.2(ARMC5):c.438G>A (p.Arg146=)	ARMC5, LOC130058906	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 777010	NM_001105247.2(ARMC5):c.466C>T (p.Leu156Phe)	ARMC5, LOC130058906 (L188F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2631770	NM_001105247.2(ARMC5):c.469C>T (p.Pro157Ser)	ARMC5, LOC130058906 (P157S +2 more)	Single nucleotide variant (missense variant)	ARMC5-related disorder	GUncertain significance

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Items: 26