Related gene-specific medical variations for Gene (Select 130013) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261789	NM_138326.3(ACMSD):c.943A>G (p.Thr315Ala)	ACMSD, CCNT2-AS1 (T257A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137033	NM_138326.3(ACMSD):c.866G>A (p.Gly289Glu)	ACMSD, CCNT2-AS1 (G231E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137023	NM_138326.3(ACMSD):c.750C>A (p.Asp250Glu)	ACMSD, CCNT2-AS1 (D192E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137022	NM_138326.3(ACMSD):c.713A>G (p.His238Arg)	ACMSD, CCNT2-AS1 (H238R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137014	NM_138326.3(ACMSD):c.622A>G (p.Met208Val)	ACMSD, CCNT2-AS1 (M208V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058305	NM_138326.3(ACMSD):c.765G>A (p.Pro255=)	ACMSD, CCNT2-AS1	Single nucleotide variant (synonymous variant)	ACMSD-related disorder	GLikely benign
Select item 2690830	NM_138326.3(ACMSD):c.948+1G>A	ACMSD, CCNT2-AS1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2651379	NM_138326.3(ACMSD):c.715G>A (p.Gly239Arg)	ACMSD, CCNT2-AS1 (G181R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2456661	NM_138326.3(ACMSD):c.721A>C (p.Ser241Arg)	ACMSD, CCNT2-AS1 (S183R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406185	NM_138326.3(ACMSD):c.667G>A (p.Ala223Thr)	ACMSD, CCNT2-AS1 (A223T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388309	NM_138326.3(ACMSD):c.808G>C (p.Asp270His)	ACMSD, CCNT2-AS1 (D212H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279189	NM_138326.3(ACMSD):c.538A>G (p.Met180Val)	ACMSD, CCNT2-AS1 (M122V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2255532	NM_138326.3(ACMSD):c.824A>G (p.Lys275Arg)	ACMSD, CCNT2-AS1 (K217R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 931507	NM_138326.3(ACMSD):c.677-14G>T	ACMSD, CCNT2-AS1	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 668229	NM_138326.3(ACMSD):c.850-3dup	ACMSD, CCNT2-AS1	Duplication (intron variant)	not provided	GLikely benign