C4748327[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92937	NM_000426.4(LAMA2):c.112+1G>A	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 282977	NM_000426.4(LAMA2):c.396+1G>T	LAMA2	Single nucleotide variant (splice donor variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +3 more	GPathogenic
Select item 585011	NM_000426.4(LAMA2):c.728T>C (p.Leu243Pro)	LAMA2 (L243P)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 92990	NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu)	LAMA2 (S277L)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +3 more	GConflicting classifications of pathogenicity
Select item 1363194	NM_000426.4(LAMA2):c.872del (p.Gly291fs)	LAMA2 (G291fs)	Deletion (frameshift variant)	LAMA2-related muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 552966	NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs)	LAMA2 (C318fs)	Insertion (frameshift variant)	LAMA2-related muscular dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 1725656	NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter)	LAMA2 (C411*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 641857	NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys)	LAMA2 (R499C)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 38339	NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)	LAMA2 (L621fs)	Duplication (frameshift variant)	Merosin deficient congenital muscular dystrophy +4 more	GPathogenic
Select item 550426	NM_000426.4(LAMA2):c.2451-2A>G	LAMA2	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 477455	NM_000426.4(LAMA2):c.2556del (p.Phe852fs)	LAMA2 (F852fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 552629	NM_000426.4(LAMA2):c.2749+1G>A	LAMA2	Single nucleotide variant (splice donor variant)	LAMA2-related muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 983635	NM_000426.4(LAMA2):c.3019C>T (p.Gln1007Ter)	LAMA2 (Q1007*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 279978	NM_000426.4(LAMA2):c.3215del (p.Cys1072fs)	LAMA2 (C1072fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy +3 more	GPathogenic
Select item 92956	NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter)	LAMA2 (R1326*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +3 more	GPathogenic
Select item 817614	NM_000426.4(LAMA2):c.4280del (p.Ser1427fs)	LAMA2 (S1427fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 191214	NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)	LAMA2 (R1450*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 802264	NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs)	LAMA2 (L1581fs)	Duplication (frameshift variant)	Merosin deficient congenital muscular dystrophy +2 more	GPathogenic
Select item 477476	NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter)	LAMA2 (Q1626*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 287913	NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter)	LAMA2 (R1706*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 1803157	NM_000426.4(LAMA2):c.5122G>T (p.Glu1708Ter)	LAMA2 (E1708*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 265426	NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)	LAMA2 (R1826*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 553305	NM_000426.4(LAMA2):c.5562+1G>A	LAMA2	Single nucleotide variant (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 197024	NM_000426.4(LAMA2):c.5562+5G>C	LAMA2	Single nucleotide variant (intron variant)	Merosin deficient congenital muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 556858	NM_000426.4(LAMA2):c.6429+1G>T	LAMA2	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 431964	NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter)	LAMA2 (Y2358*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 14300	NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter)	LAMA2 (R2383*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal recessive 23 +4 more	GPathogenic
Select item 983647	NM_000426.4(LAMA2):c.7283C>G (p.Ser2428Ter)	LAMA2 (S2428*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 1724076	NM_000426.4(LAMA2):c.7374del (p.Phe2458fs)	LAMA2 (F2458fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 959370	NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs)	LAMA2 (L2460fs)	Duplication (frameshift variant)	Merosin deficient congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 14296	NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)	LAMA2 (R2578* +1 more)	Single nucleotide variant (nonsense)	Congenital Muscular Dystrophy, LAMA2-related +5 more	GPathogenic
Select item 689499	NM_000426.4(LAMA2):c.7750-2A>G	LAMA2	Single nucleotide variant (splice acceptor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 1028255	NM_000426.4(LAMA2):c.7753T>C (p.Tyr2585His)	LAMA2 (Y2585H +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23	GUncertain significance
Select item 550992	NM_000426.4(LAMA2):c.8244+1G>A	LAMA2	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic

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Items: 34