C1263858[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 219

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2676267	NM_000426.4(LAMA2):c.16_49del (p.Gly6fs)	LAMA2 (G6fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676272	NM_000426.4(LAMA2):c.112+1G>T	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
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 2676231	NM_000426.4(LAMA2):c.113-2A>C	LAMA2	Single nucleotide variant (splice acceptor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 1030786	NM_000426.4(LAMA2):c.155T>G (p.Ile52Ser)	LAMA2 (I52S)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy	GUncertain significance
Select item 2676259	NM_000426.4(LAMA2):c.183del (p.Gly62fs)	LAMA2 (G62fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 1180611	NM_000426.4(LAMA2):c.250C>T (p.Arg84Ter)	LAMA2 (R84*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +2 more	GPathogenic
Select item 557249	NM_000426.4(LAMA2):c.283C>T (p.Gln95Ter)	LAMA2 (Q95*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 381584	NM_000426.4(LAMA2):c.283+1G>A	LAMA2	Single nucleotide variant (splice donor variant)	LAMA2-related muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 2676247	NM_000426.4(LAMA2):c.283+2T>A	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 551699	NM_000426.4(LAMA2):c.363C>A (p.Tyr121Ter)	LAMA2 (Y121*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
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 1323163	NM_000426.4(LAMA2):c.442dup (p.Arg148fs)	LAMA2 (R148fs)	Duplication (frameshift variant)	Merosin deficient congenital muscular dystrophy +2 more	GPathogenic
Select item 1431679	NM_000426.4(LAMA2):c.437C>A (p.Ser146Tyr)	LAMA2 (S146Y)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 162573	NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe)	LAMA2 (S146F)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 551094	NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter)	LAMA2 (W166*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
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 963631	NM_000426.4(LAMA2):c.820-1G>A	LAMA2	Single nucleotide variant (splice acceptor variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 477517	NM_000426.4(LAMA2):c.828C>G (p.Tyr276Ter)	LAMA2 (Y276*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +1 more	GPathogenic/Likely 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 2676224	NM_000426.4(LAMA2):c.861C>A (p.Cys287Ter)	LAMA2 (C287*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
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 452206	NM_000426.4(LAMA2):c.917G>A (p.Arg306His)	LAMA2 (R306H)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +2 more	GUncertain significance
Select item 1355480	NM_000426.4(LAMA2):c.938_939del (p.Thr313fs)	LAMA2 (T313fs)	Microsatellite (frameshift variant)	Merosin deficient congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 477529	NM_000426.4(LAMA2):c.939_940del (p.Cys314fs)	LAMA2 (C314fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy +3 more	GPathogenic
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 2676269	NM_000426.4(LAMA2):c.987del (p.Trp330fs)	LAMA2 (W330fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 3241805	NM_000426.4(LAMA2):c.1027+2T>C	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676234	NM_000426.4(LAMA2):c.1121_1129delinsTACTT (p.Gly374fs)	LAMA2 (G374fs)	Indel (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676256	NM_000426.4(LAMA2):c.1188dup (p.Phe397fs)	LAMA2 (F397fs)	Duplication (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 1950588	NM_000426.4(LAMA2):c.1206+1del	LAMA2	Deletion (splice donor variant)	LAMA2-related muscular dystrophy +1 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 689567	NM_000426.4(LAMA2):c.1288G>T (p.Glu430Ter)	LAMA2 (E430*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy	GPathogenic
Select item 477436	NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter)	LAMA2 (R434*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 235805	NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter)	LAMA2 (R435*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 550061	NM_000426.4(LAMA2):c.1306+2T>G	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy	GPathogenic/Likely pathogenic
Select item 2676270	NM_000426.4(LAMA2):c.1307-2A>G	LAMA2	Single nucleotide variant (splice acceptor variant)	Merosin deficient congenital muscular dystrophy	GPathogenic
Select item 557933	NM_000426.4(LAMA2):c.1307-1G>A	LAMA2	Single nucleotide variant (splice acceptor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 447680	NM_000426.4(LAMA2):c.1400A>G (p.Lys467Arg)	LAMA2 (K467R)	Single nucleotide variant (missense variant)	LAMA2-related muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 1031565	NM_000426.4(LAMA2):c.1454C>T (p.Pro485Leu)	LAMA2 (P485L)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy	GUncertain significance
Select item 2231337	NM_000426.4(LAMA2):c.1490_1491del (p.Asp496_Cys497insTer)	LAMA2	Deletion (nonsense)	Merosin deficient congenital muscular dystrophy +1 more	GPathogenic
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 2676246	NM_000426.4(LAMA2):c.1522C>T (p.Gln508Ter)	LAMA2 (Q508*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy	GPathogenic
Select item 2676275	NM_000426.4(LAMA2):c.1638_1641del (p.Asp547fs)	LAMA2 (D547fs)	Microsatellite (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 477444	NM_000426.4(LAMA2):c.1650C>T (p.Gly550=)	LAMA2	Single nucleotide variant (synonymous variant)	LAMA2-related muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 452811	NM_000426.4(LAMA2):c.1657C>T (p.Arg553Ter)	LAMA2 (R553*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 2676242	NM_000426.4(LAMA2):c.1682_1688del (p.Leu561fs)	LAMA2 (L561fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 660619	NM_000426.4(LAMA2):c.1727_1767del (p.Gln576fs)	LAMA2 (Q576fs)	Deletion (frameshift variant)	LAMA2-related muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 698106	NM_000426.4(LAMA2):c.1755C>T (p.Ser585=)	LAMA2	Single nucleotide variant (synonymous variant)	Merosin deficient congenital muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 191334	NM_000426.4(LAMA2):c.1762del (p.Ala588fs)	LAMA2 (A588fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2676249	NM_000426.4(LAMA2):c.1782_1782+1delinsT	LAMA2	Indel (splice donor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 3241804	NM_000426.4(LAMA2):c.1783-2A>G	LAMA2	Single nucleotide variant (splice acceptor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 1076694	NM_000426.4(LAMA2):c.1852G>T (p.Glu618Ter)	LAMA2 (E618*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
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 1067396	NM_000426.4(LAMA2):c.1884+2T>C	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 2676235	NM_000426.4(LAMA2):c.1973_1991delinsTAA (p.Glu658fs)	LAMA2 (E658fs)	Indel (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676236	NM_000426.4(LAMA2):c.1976C>A (p.Ser659Ter)	LAMA2 (S659*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy	GPathogenic
Select item 38340	NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)	LAMA2 (R683fs)	Microsatellite (frameshift variant)	Merosin deficient congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 551611	NM_000426.4(LAMA2):c.2096+1G>A	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 554082	NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg)	LAMA2 (C726R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 554268	NM_000426.4(LAMA2):c.2230C>T (p.Arg744Ter)	LAMA2 (R744*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +1 more	GPathogenic
Select item 2676245	NM_000426.4(LAMA2):c.2323-2A>T	LAMA2	Single nucleotide variant (splice acceptor variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 951228	NM_000426.4(LAMA2):c.2323-1G>T	LAMA2	Single nucleotide variant (splice acceptor variant)	LAMA2-related muscular dystrophy +1 more	GLikely pathogenic
Select item 423308	NM_000426.4(LAMA2):c.2350dup (p.Tyr784fs)	LAMA2 (Y784fs)	Duplication (frameshift variant)	LAMA2-related muscular dystrophy +2 more	GPathogenic
Select item 1807350	NM_000426.4(LAMA2):c.2383G>T (p.Glu795Ter)	LAMA2 (E795*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 2136464	NM_000426.4(LAMA2):c.2450+1G>C	LAMA2	Single nucleotide variant (splice donor variant)	LAMA2-related muscular dystrophy +1 more	GLikely pathogenic
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 3241809	NM_000426.4(LAMA2):c.2502del (p.Cys835fs)	LAMA2 (C835fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676225	NM_000426.4(LAMA2):c.2514del (p.Tyr839fs)	LAMA2 (Y839fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676251	NM_000426.4(LAMA2):c.2537+1G>C	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy	GLikely 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 3241807	NM_000426.4(LAMA2):c.2609del (p.Asn870fs)	LAMA2 (N870fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 3241814	NM_000426.4(LAMA2):c.2641del (p.Ser881fs)	LAMA2 (S881fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676265	NM_000426.4(LAMA2):c.2723del (p.Asp908fs)	LAMA2 (D908fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 552807	NM_000426.4(LAMA2):c.2749+2dup	LAMA2	Duplication (splice donor variant)	Merosin deficient congenital muscular dystrophy +1 more	GPathogenic
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 2676266	NM_000426.4(LAMA2):c.2768_2771dup (p.Ser925fs)	LAMA2 (S925fs)	Duplication (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676268	NM_000426.4(LAMA2):c.2788del (p.Cys930fs)	LAMA2 (C930fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676227	NM_000426.4(LAMA2):c.2790C>A (p.Cys930Ter)	LAMA2 (C930*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676253	NM_000426.4(LAMA2):c.2803G>T (p.Gly935Ter)	LAMA2 (G935*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 2676232	NM_000426.4(LAMA2):c.2811_2812del (p.Cys937_Glu938delinsTer)	LAMA2	Microsatellite (nonsense)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 477458	NM_000426.4(LAMA2):c.2836C>T (p.Gln946Ter)	LAMA2 (Q946*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 2676258	NM_000426.4(LAMA2):c.2856+1G>C	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 14301	NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter)	LAMA2 (C967*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2676243	NM_000426.4(LAMA2):c.2937_2938del (p.Cys979_Glu980delinsTer)	LAMA2	Microsatellite (nonsense)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 92950	NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter)	LAMA2 (Q988*)	Single nucleotide variant (nonsense)	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 1066222	NM_000426.4(LAMA2):c.3037+1G>T	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 3241810	NM_000426.4(LAMA2):c.3039_3040del (p.Ala1013_Cys1014insTer)	LAMA2	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 551522	NM_000426.4(LAMA2):c.3085C>T (p.Arg1029Ter)	LAMA2 (R1029*)	Single nucleotide variant (nonsense)	LAMA2-related muscular dystrophy +2 more	GPathogenic
Select item 1457583	NM_000426.4(LAMA2):c.3089_3126dup (p.Lys1043fs)	LAMA2 (K1043fs)	Duplication (frameshift variant)	Merosin deficient congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1031567	NM_000426.4(LAMA2):c.3186C>A (p.Cys1062Ter)	LAMA2 (C1062*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy	GPathogenic
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 1456709	NM_000426.4(LAMA2):c.3232C>T (p.Gln1078Ter)	LAMA2 (Q1078*)	Single nucleotide variant (nonsense)	Merosin deficient congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 905363	NM_000426.4(LAMA2):c.3508G>A (p.Gly1170Ser)	LAMA2 (G1170S)	Single nucleotide variant (missense variant)	Merosin deficient congenital muscular dystrophy +1 more	GUncertain significance
Select item 555549	NM_000426.4(LAMA2):c.3556-13T>A	LAMA2	Single nucleotide variant (intron variant)	LAMA2-related muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1464797	NM_000426.4(LAMA2):c.3556-1G>C	LAMA2	Single nucleotide variant (splice acceptor variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 167242	NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs)	LAMA2 (K1208fs)	Deletion (frameshift variant)	Merosin deficient congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 92954	NM_000426.4(LAMA2):c.3630del (p.Ile1210fs)	LAMA2 (I1210fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1986543	NM_000426.4(LAMA2):c.3735+1G>A	LAMA2	Single nucleotide variant (splice donor variant)	Merosin deficient congenital muscular dystrophy +1 more	GLikely pathogenic

<< First< Prev

Page of 3