Related gene-specific medical variations for Gene (Select 126859784) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2875871	NM_000426.4(LAMA2):c.8357+15G>C	LAMA2, LOC126859784	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2839071	NM_000426.4(LAMA2):c.8245-5T>G	LAMA2, LOC126859784	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2813011	NM_000426.4(LAMA2):c.8274T>C (p.Ala2758=)	LAMA2, LOC126859784	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2733128	NM_000426.4(LAMA2):c.8357+8T>G	LAMA2, LOC126859784	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2710569	NM_000426.4(LAMA2):c.8325A>C (p.Ala2775=)	LAMA2, LOC126859784	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2682954	NM_000426.4(LAMA2):c.8276T>C (p.Leu2759Pro)	LAMA2, LOC126859784 (L2755P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2676250	NM_000426.4(LAMA2):c.8256del (p.Ala2753fs)	LAMA2, LOC126859784 (A2749fs +1 more)	Deletion (frameshift variant)	LAMA2-related muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 2578276	NM_000426.4(LAMA2):c.8357+115dup	LAMA2, LOC126859784	Duplication (intron variant)	not provided	GLikely benign
Select item 2483037	NM_000426.4(LAMA2):c.8326A>G (p.Ile2776Val)	LAMA2, LOC126859784 (I2776V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482794	NM_000426.4(LAMA2):c.8276T>G (p.Leu2759Arg)	LAMA2, LOC126859784 (L2755R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444255	NM_000426.4(LAMA2):c.8312dup (p.Asn2771fs)	LAMA2, LOC126859784 (N2767fs +1 more)	Duplication (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal recessive 23	GLikely pathogenic
Select item 2433345	NM_000426.4(LAMA2):c.8290A>C (p.Lys2764Gln)	LAMA2, LOC126859784 (K2760Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164652	NM_000426.4(LAMA2):c.8342C>T (p.Thr2781Ile)	LAMA2, LOC126859784 (T2781I +1 more)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
Select item 2162985	NM_000426.4(LAMA2):c.8357+14T>G	LAMA2, LOC126859784	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 2153857	NM_000426.4(LAMA2):c.8284G>C (p.Gly2762Arg)	LOC126859784, LAMA2 (G2762R +1 more)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
Select item 2081858	NM_000426.4(LAMA2):c.8337T>A (p.Asp2779Glu)	LAMA2, LOC126859784 (D2779E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1988450	NM_000426.4(LAMA2):c.8331A>C (p.Ala2777=)	LAMA2, LOC126859784	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1979320	NM_000426.4(LAMA2):c.8295G>A (p.Gln2765=)	LAMA2, LOC126859784	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1897694	NM_000426.4(LAMA2):c.8355_8356delinsAT (p.Asn2785_Arg2786delinsLysCys)	LOC126859784, LAMA2	Indel (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
Select item 1693933	NM_000426.4(LAMA2):c.8342C>A (p.Thr2781Asn)	LAMA2, LOC126859784 (T2777N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1650650	NM_000426.4(LAMA2):c.8343C>T (p.Thr2781=)	LAMA2, LOC126859784	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1635229	NM_000426.4(LAMA2):c.8245-8T>C	LAMA2, LOC126859784	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1619045	NM_000426.4(LAMA2):c.8355C>T (p.Asn2785=)	LAMA2, LOC126859784	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1597819	NM_000426.4(LAMA2):c.8268A>G (p.Glu2756=)	LAMA2, LOC126859784	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1585678	NM_000426.4(LAMA2):c.8357+9C>T	LAMA2, LOC126859784	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1565080	NM_000426.4(LAMA2):c.8344A>G (p.Lys2782Glu)	LAMA2, LOC126859784 (K2778E +1 more)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1516816	NM_000426.4(LAMA2):c.8294A>T (p.Gln2765Leu)	LAMA2, LOC126859784 (Q2761L +1 more)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
Select item 1494009	NM_000426.4(LAMA2):c.8255C>A (p.Ala2752Asp)	LOC126859784, LAMA2 (A2752D +1 more)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
Select item 1452596	NM_000426.4(LAMA2):c.8357+1G>A	LAMA2, LOC126859784	Single nucleotide variant (splice donor variant)	LAMA2-related muscular dystrophy	GPathogenic
Select item 1450439	NM_000426.4(LAMA2):c.8245G>T (p.Gly2749Cys)	LAMA2, LOC126859784 (G2749C +1 more)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
Select item 1419473	NM_000426.4(LAMA2):c.8324C>A (p.Ala2775Glu)	LAMA2, LOC126859784 (A2771E +1 more)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
Select item 1417264	NM_000426.4(LAMA2):c.8344A>C (p.Lys2782Gln)	LAMA2, LOC126859784 (K2782Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1386655	NM_000426.4(LAMA2):c.8275C>G (p.Leu2759Val)	LAMA2, LOC126859784 (L2759V +1 more)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1367602	NM_000426.4(LAMA2):c.8297dup (p.Gly2767fs)	LAMA2, LOC126859784 (G2763fs +1 more)	Duplication (frameshift variant)	LAMA2-related muscular dystrophy	GPathogenic
Select item 1335642	NM_000426.4(LAMA2):c.8245-1G>C	LAMA2, LOC126859784	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1304053	NM_000426.4(LAMA2):c.8299G>A (p.Gly2767Arg)	LAMA2, LOC126859784 (G2763R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303209	NM_000426.4(LAMA2):c.8261A>G (p.Glu2754Gly)	LAMA2, LOC126859784 (E2750G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1163856	NM_000426.4(LAMA2):c.8356C>T (p.Arg2786Cys)	LAMA2, LOC126859784 (R2782C +1 more)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +1 more	GUncertain significance
Select item 1126152	NM_000426.4(LAMA2):c.8271A>G (p.Pro2757=)	LAMA2, LOC126859784	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 1087598	NM_000426.4(LAMA2):c.8245-7T>C	LAMA2, LOC126859784	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy	GLikely benign
Select item 972343	NM_000426.4(LAMA2):c.8357G>A (p.Arg2786His)	LAMA2, LOC126859784 (R2782H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 906156	NM_000426.4(LAMA2):c.8357+4T>A	LAMA2, LOC126859784	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to partial LAMA2 deficiency	GUncertain significance
Select item 682954	NM_000426.4(LAMA2):c.8245-159A>G	LAMA2, LOC126859784	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682952	NM_000426.4(LAMA2):c.8245-193T>C	LAMA2, LOC126859784	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677668	NM_000426.4(LAMA2):c.8357+117T>C	LAMA2, LOC126859784	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677667	NM_000426.4(LAMA2):c.8245-167G>A	LAMA2, LOC126859784	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677666	NM_000426.4(LAMA2):c.8245-172G>T	LAMA2, LOC126859784	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 645808	NM_000426.4(LAMA2):c.8298C>A (p.Phe2766Leu)	LOC126859784, LAMA2 (F2762L +1 more)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy	GUncertain significance
Select item 543880	NM_000426.4(LAMA2):c.8298C>T (p.Phe2766=)	LOC126859784, LAMA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 388219	NM_000426.4(LAMA2):c.8357+19C>T	LAMA2, LOC126859784	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 372750	NM_000426.4(LAMA2):c.8245-2A>G	LAMA2, LOC126859784	Single nucleotide variant (splice acceptor variant)	LAMA2-related muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 242607	NM_000426.4(LAMA2):c.8282T>C (p.Ile2761Thr)	LOC126859784, LAMA2 (I2761T +1 more)	Single nucleotide variant (missense variant)	LAMA2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 190218	NM_000426.3(LAMA2):c.[2461A>C;8282T>C]	LOC126859784, LAMA2 (I2761T +2 more)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy	GPathogenic
Select item 162580	NM_000426.4(LAMA2):c.8326A>T (p.Ile2776Phe)	LAMA2, LOC126859784 (I2776F +1 more)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +3 more	GUncertain significance
Select item 14292	NM_000426.4(LAMA2):c.8265del (p.Glu2756fs)	LAMA2, LOC126859784 (E2752fs +1 more)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GPathogenic

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Items: 55