"PreventionGenetics, part of Exact Sciences"[submitter] AND "LAMA1"[ge - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041764	NM_005559.4(LAMA1):c.8904C>T (p.Thr2968=)	LAMA1	Single nucleotide variant (synonymous variant)	LAMA1-related disorder	GLikely benign
Select item 2417586	NM_005559.4(LAMA1):c.8694C>T (p.Ser2898=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3047430	NM_005559.4(LAMA1):c.8685T>C (p.Phe2895=)	LAMA1	Single nucleotide variant (synonymous variant)	LAMA1-related disorder	GLikely benign
Select item 3052035	NM_005559.4(LAMA1):c.8595G>A (p.Thr2865=)	LAMA1	Single nucleotide variant (synonymous variant)	LAMA1-related disorder	GLikely benign
Select item 714739	NM_005559.4(LAMA1):c.8454T>C (p.Ser2818=)	LAMA1	Single nucleotide variant (synonymous variant)	LAMA1-related disorder +1 more	GBenign
Select item 714740	NM_005559.4(LAMA1):c.8403G>A (p.Lys2801=)	LAMA1	Single nucleotide variant (synonymous variant)	LAMA1-related disorder +1 more	GBenign
Select item 435702	NM_005559.4(LAMA1):c.8315G>A (p.Arg2772His)	LAMA1 (R2772H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1622103	NM_005559.4(LAMA1):c.7830C>A (p.Gly2610=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 789235	NM_005559.4(LAMA1):c.7724C>T (p.Thr2575Met)	LAMA1, LOC126862685 (T2575M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1422652	NM_005559.4(LAMA1):c.7670A>C (p.His2557Pro)	LAMA1, LOC126862685 (H2557P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 720589	NM_005559.4(LAMA1):c.7446A>G (p.Leu2482=)	LAMA1	Single nucleotide variant (synonymous variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +2 more	GBenign/Likely benign
Select item 771771	NM_005559.4(LAMA1):c.7141C>T (p.Arg2381Cys)	LAMA1 (R2381C)	Single nucleotide variant (missense variant)	LAMA1-related disorder +1 more	GLikely benign
Select item 1911162	NM_005559.4(LAMA1):c.6951C>T (p.Val2317=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 753509	NM_005559.4(LAMA1):c.6888G>A (p.Gly2296=)	LAMA1	Single nucleotide variant (synonymous variant)	LAMA1-related disorder +1 more	GLikely benign
Select item 719206	NM_005559.4(LAMA1):c.6883C>T (p.Arg2295Cys)	LAMA1 (R2295C)	Single nucleotide variant (missense variant)	LAMA1-related disorder +1 more	GBenign
Select item 719207	NM_005559.4(LAMA1):c.6850C>T (p.Leu2284=)	LAMA1	Single nucleotide variant (synonymous variant)	LAMA1-related disorder +1 more	GBenign
Select item 500448	NM_005559.4(LAMA1):c.6845T>C (p.Ile2282Thr)	LAMA1 (I2282T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1533223	NM_005559.4(LAMA1):c.6801T>C (p.His2267=)	LAMA1	Single nucleotide variant (synonymous variant)	LAMA1-related disorder +1 more	GBenign/Likely benign
Select item 3047842	NM_005559.4(LAMA1):c.6490-7C>T	LAMA1	Single nucleotide variant (intron variant)	LAMA1-related disorder	GLikely benign
Select item 707826	NM_005559.4(LAMA1):c.6250C>T (p.Arg2084Trp)	LAMA1 (R2084W)	Single nucleotide variant (missense variant)	LAMA1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 755297	NM_005559.4(LAMA1):c.6200C>G (p.Ala2067Gly)	LAMA1 (A2067G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 755298	NM_005559.4(LAMA1):c.6025G>A (p.Ala2009Thr)	LAMA1 (A2009T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 377115	NM_005559.4(LAMA1):c.5867A>G (p.Asn1956Ser)	LAMA1 (N1956S)	Single nucleotide variant (missense variant)	LAMA1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1362252	NM_005559.4(LAMA1):c.5789C>T (p.Thr1930Met)	LAMA1 (T1930M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 714741	NM_005559.4(LAMA1):c.5748G>A (p.Ser1916=)	LAMA1	Single nucleotide variant (synonymous variant)	LAMA1-related disorder +1 more	GLikely benign
Select item 1626936	NM_005559.4(LAMA1):c.5289G>A (p.Ala1763=)	LAMA1	Single nucleotide variant (synonymous variant)	LAMA1-related disorder +1 more	GLikely benign
Select item 3050100	NM_005559.4(LAMA1):c.4932T>C (p.Asn1644=)	LAMA1	Single nucleotide variant (synonymous variant)	LAMA1-related disorder	GLikely benign
Select item 3037006	NM_005559.4(LAMA1):c.4914G>A (p.Ala1638=)	LAMA1	Single nucleotide variant (synonymous variant)	LAMA1-related disorder	GLikely benign
Select item 1723445	NM_005559.4(LAMA1):c.4884C>A (p.Asn1628Lys)	LAMA1 (N1628K)	Single nucleotide variant (missense variant)	LAMA1-related disorder +1 more	GUncertain significance
Select item 750454	NM_005559.4(LAMA1):c.4737C>T (p.Asn1579=)	LAMA1	Single nucleotide variant (synonymous variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +2 more	GLikely benign
Select item 795914	NM_005559.4(LAMA1):c.4735A>G (p.Asn1579Asp)	LAMA1 (N1579D)	Single nucleotide variant (missense variant)	LAMA1-related disorder +1 more	GBenign/Likely benign
Select item 1599245	NM_005559.4(LAMA1):c.4692G>A (p.Leu1564=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 745557	NM_005559.4(LAMA1):c.4591A>C (p.Arg1531=)	LAMA1	Single nucleotide variant (synonymous variant)	LAMA1-related disorder +1 more	GLikely benign
Select item 3034359	NM_005559.4(LAMA1):c.4248C>T (p.Thr1416=)	LAMA1	Single nucleotide variant (synonymous variant)	LAMA1-related disorder	GLikely benign
Select item 780170	NM_005559.4(LAMA1):c.3946G>A (p.Asp1316Asn)	LAMA1 (D1316N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2174686	NM_005559.4(LAMA1):c.3918G>A (p.Thr1306=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 789455	NM_005559.4(LAMA1):c.3745G>A (p.Val1249Ile)	LAMA1 (V1249I)	Single nucleotide variant (missense variant)	LAMA1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 714867	NM_005559.4(LAMA1):c.3724G>A (p.Ala1242Thr)	LAMA1 (A1242T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1504017	NM_005559.4(LAMA1):c.3617C>T (p.Ala1206Val)	LAMA1 (A1206V)	Single nucleotide variant (missense variant)	LAMA1-related disorder +1 more	GUncertain significance
Select item 1723234	NM_005559.4(LAMA1):c.3319G>C (p.Gly1107Arg)	LAMA1 (G1107R)	Single nucleotide variant (missense variant)	LAMA1-related disorder +1 more	GUncertain significance
Select item 717410	NM_005559.4(LAMA1):c.3215G>T (p.Arg1072Leu)	LAMA1 (R1072L)	Single nucleotide variant (missense variant)	LAMA1-related disorder +1 more	GBenign/Likely benign
Select item 1206246	NM_005559.4(LAMA1):c.3145G>A (p.Val1049Met)	LAMA1 (V1049M)	Single nucleotide variant (missense variant)	LAMA1-related disorder +1 more	GBenign/Likely benign
Select item 284738	NM_005559.4(LAMA1):c.2989C>T (p.Pro997Ser)	LAMA1 (P997S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 789344	NM_005559.4(LAMA1):c.2900G>A (p.Gly967Asp)	LAMA1 (G967D)	Single nucleotide variant (missense variant)	LAMA1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3040684	NM_005559.4(LAMA1):c.2809-4del	LAMA1	Deletion (intron variant)	LAMA1-related disorder	GLikely benign
Select item 717102	NM_005559.4(LAMA1):c.2808+5G>A	LAMA1	Single nucleotide variant (intron variant)	LAMA1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 235727	NM_005559.4(LAMA1):c.2657C>T (p.Ala886Val)	LAMA1 (A886V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 725900	NM_005559.4(LAMA1):c.2562C>T (p.Asn854=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 730102	NM_005559.4(LAMA1):c.2283G>A (p.Ala761=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 708466	NM_005559.4(LAMA1):c.2186G>A (p.Arg729His)	LAMA1 (R729H)	Single nucleotide variant (missense variant)	LAMA1-related disorder +1 more	GBenign/Likely benign
Select item 3043736	NM_005559.4(LAMA1):c.2166G>A (p.Ser722=)	LAMA1	Single nucleotide variant (synonymous variant)	LAMA1-related disorder	GLikely benign
Select item 750197	NM_005559.4(LAMA1):c.2136G>T (p.Pro712=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2180474	NM_005559.4(LAMA1):c.1797G>A (p.Thr599=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 777268	NM_005559.4(LAMA1):c.1792G>C (p.Glu598Gln)	LAMA1 (E598Q)	Single nucleotide variant (missense variant)	LAMA1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 773070	NM_005559.4(LAMA1):c.1770G>A (p.Thr590=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 713397	NM_005559.4(LAMA1):c.1239C>A (p.Asp413Glu)	LAMA1 (D413E)	Single nucleotide variant (missense variant)	LAMA1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 780473	NM_005559.4(LAMA1):c.665G>A (p.Arg222Gln)	LAMA1 (R222Q)	Single nucleotide variant (missense variant)	LAMA1-related disorder +2 more	GBenign/Likely benign
Select item 2629022	NM_005559.4(LAMA1):c.524G>A (p.Arg175Lys)	LAMA1 (R175K)	Single nucleotide variant (missense variant)	LAMA1-related disorder	GUncertain significance
Select item 1598571	NM_005559.4(LAMA1):c.465C>T (p.Ser155=)	LAMA1	Single nucleotide variant (synonymous variant)	LAMA1-related disorder +1 more	GBenign/Likely benign
Select item 235519	NM_005559.4(LAMA1):c.181G>A (p.Val61Ile)	LAMA1 (V61I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 713312	NM_005559.4(LAMA1):c.53G>A (p.Arg18Gln)	LAMA1 (R18Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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Items: 61