"Revvity Omics, Revvity"[submitter] AND "LOC123864065"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 656265	NM_000426.4(LAMA2):c.6094G>A (p.Ala2032Thr)	LOC123864065, LAMA2 (A2032T)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 543867	NM_000426.4(LAMA2):c.6106G>A (p.Ala2036Thr)	LAMA2, LOC123864065 (A2036T)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 1324644	NM_000426.4(LAMA2):c.6129_6139dup (p.Thr2047fs)	LAMA2, LOC123864065 (T2047fs)	Duplication (frameshift variant)	LAMA2-related muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 235327	NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg)	LAMA2, LOC123864065 (Q2043R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1437142	NM_000426.4(LAMA2):c.6135C>G (p.Asn2045Lys)	LOC123864065, LAMA2 (N2045K)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 1693929	NM_000426.4(LAMA2):c.6151G>A (p.Val2051Ile)	LAMA2, LOC123864065 (V2051I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2433300	NM_000426.4(LAMA2):c.6163A>G (p.Ile2055Val)	LAMA2, LOC123864065 (I2055V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 906021	NM_000426.4(LAMA2):c.6183C>A (p.Asn2061Lys)	LAMA2, LOC123864065 (N2061K)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +2 more	GUncertain significance
Select item 662072	NM_000426.4(LAMA2):c.6207C>A (p.Tyr2069Ter)	LAMA2, LOC123864065 (Y2069*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2433342	NM_000426.4(LAMA2):c.6209A>G (p.Asn2070Ser)	LAMA2, LOC123864065 (N2070S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2156951	NM_000426.4(LAMA2):c.6224G>A (p.Ser2075Asn)	LAMA2, LOC123864065 (S2075N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 440937	NM_000426.4(LAMA2):c.6229G>A (p.Ala2077Thr)	LAMA2, LOC123864065 (A2077T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2175303	NM_000426.4(LAMA2):c.6235A>T (p.Thr2079Ser)	LAMA2, LOC123864065 (T2079S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1043548	NM_000426.4(LAMA2):c.6236C>T (p.Thr2079Met)	LAMA2, LOC123864065 (T2079M)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 284415	NM_000426.4(LAMA2):c.6268+5G>C	LAMA2, LOC123864065	Single nucleotide variant (intron variant)	not provided +7 more	GConflicting classifications of pathogenicity