"Ambry Genetics"[submitter] AND "MCCC2"[gene] - ClinVar

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

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 905569	NM_022132.5(MCCC2):c.58C>T (p.Pro20Ser)	MCCC2 (P20S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2606004	NM_022132.5(MCCC2):c.61C>T (p.Arg21Cys)	MCCC2 (R21C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2150106	NM_022132.5(MCCC2):c.68A>C (p.Tyr23Ser)	MCCC2 (Y23S)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2383892	NM_022132.5(MCCC2):c.104C>T (p.Pro35Leu)	MCCC2 (P35L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239097	NM_022132.5(MCCC2):c.281+4C>T	MCCC2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2336532	NM_022132.5(MCCC2):c.340G>A (p.Val114Met)	MCCC2 (V114M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2146513	NM_022132.5(MCCC2):c.422A>G (p.Lys141Arg)	MCCC2 (K141R)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency +1 more	GUncertain significance
Select item 2287182	NM_022132.5(MCCC2):c.448G>A (p.Val150Met)	MCCC2 (V150M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239617	NM_022132.5(MCCC2):c.530A>G (p.Tyr177Cys)	MCCC2 (Y177C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323547	NM_022132.5(MCCC2):c.566A>G (p.Asp189Gly)	MCCC2 (D189G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1514755	NM_022132.5(MCCC2):c.700C>T (p.Arg234Cys)	MCCC2 (R234C)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 2 deficiency +1 more	GUncertain significance
Select item 964758	NM_022132.5(MCCC2):c.701G>A (p.Arg234His)	MCCC2 (R234H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 991032	NM_022132.5(MCCC2):c.775G>T (p.Asp259Tyr)	MCCC2 (D221Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257588	NM_022132.5(MCCC2):c.803+4A>G	MCCC2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2336913	NM_022132.5(MCCC2):c.984C>A (p.Ser328Arg)	MCCC2 (S290R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 203805	NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)	MCCC2 (V339M +1 more)	Single nucleotide variant (missense variant)	MCCC2-related condition +5 more	GConflicting classifications of pathogenicity
Select item 203806	NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)	MCCC2 (L355F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2385438	NM_022132.5(MCCC2):c.1100T>C (p.Val367Ala)	MCCC2 (V329A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 569797	NM_022132.5(MCCC2):c.1282G>A (p.Ala428Thr)	MCCC2 (A428T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 467803	NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg)	MCCC2 (G475R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 96030	NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly)	MCCC2 (A478G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2544815	NM_022132.5(MCCC2):c.1440T>G (p.Asn480Lys)	MCCC2 (N442K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1708798	NM_022132.5(MCCC2):c.1493C>T (p.Ser498Phe)	MCCC2 (S460F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 354104	NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val)	MCCC2 (I553V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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: 24