ACTR3C[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3142509	NM_001164458.2(ACTR3C):c.562A>C (p.Lys188Gln)	ACTR3C (K188Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3142504	NM_001164458.2(ACTR3C):c.554C>T (p.Pro185Leu)	ACTR3C (P185L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292839	NM_001164458.2(ACTR3C):c.553C>T (p.Pro185Ser)	ACTR3C (P185S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3142494	NM_001164458.2(ACTR3C):c.548G>A (p.Arg183Gln)	ACTR3C (G3S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412095	NM_001164458.2(ACTR3C):c.518A>C (p.Glu173Ala)	ACTR3C (E173A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2267890	NM_001164458.2(ACTR3C):c.494A>G (p.Glu165Gly)	ACTR3C (E165G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2333145	NM_001164458.2(ACTR3C):c.492G>A (p.Met164Ile)	ACTR3C (M164I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510749	NM_001164458.2(ACTR3C):c.479A>T (p.Asn160Ile)	ACTR3C (N160I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365291	NM_001164458.2(ACTR3C):c.395C>T (p.Ala132Val)	ACTR3C (A132V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 402338	NM_001164458.2(ACTR3C):c.361C>T (p.Gln121Ter)	ACTR3C (Q121*)	Single nucleotide variant (nonsense +2 more)	not specified	GBenign
Select item 3142480	NM_001164458.2(ACTR3C):c.322G>C (p.Asp108His)	ACTR3C (D108H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2349098	NM_001164458.2(ACTR3C):c.322G>A (p.Asp108Asn)	ACTR3C (D108N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2475994	NM_001164458.2(ACTR3C):c.266A>G (p.Glu89Gly)	ACTR3C (E89G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3142472	NM_001164458.2(ACTR3C):c.260C>T (p.Pro87Leu)	ACTR3C (P87L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3142468	NM_001164458.2(ACTR3C):c.212T>C (p.Ile71Thr)	ACTR3C (I71T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2370889	NM_001164458.2(ACTR3C):c.194C>T (p.Pro65Leu)	ACTR3C (P65L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2605416	NM_001164458.2(ACTR3C):c.95G>C (p.Arg32Pro)	ACTR3C (R32P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2345240	NM_001164458.2(ACTR3C):c.94C>T (p.Arg32Cys)	ACTR3C (R32C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3142489	NM_001164458.2(ACTR3C):c.35T>C (p.Ile12Thr)	ACTR3C (I12T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2516698	NM_001164458.2(ACTR3C):c.34A>G (p.Ile12Val)	ACTR3C (I12V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2231565	NM_001164458.2(ACTR3C):c.19G>C (p.Val7Leu)	ACTR3C (V7L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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: 21