C3150413[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028981	NM_024301.5(FKRP):c.-253+4A>G	STRN4, FKRP +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 3241629	NM_024301.5(FKRP):c.74_80del (p.Ser25fs)	FKRP (S25fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 3241624	NM_024301.5(FKRP):c.78G>A (p.Trp26Ter)	FKRP (W26*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 2675694	NM_024301.5(FKRP):c.88C>T (p.Gln30Ter)	FKRP (Q30*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 459232	NM_024301.5(FKRP):c.158_162dup (p.Glu55fs)	FKRP (E55fs)	Duplication (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 282866	NM_024301.5(FKRP):c.162_165dup (p.Phe56fs)	FKRP (F56fs)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +5 more	GPathogenic
Select item 3241622	NM_024301.5(FKRP):c.163G>T (p.Glu55Ter)	FKRP (E55*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 939991	NM_024301.5(FKRP):c.206_208del (p.Ser69del)	FKRP (S69del)	Deletion (inframe_deletion)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +1 more	GLikely pathogenic
Select item 2675706	NM_024301.5(FKRP):c.217C>T (p.Gln73Ter)	FKRP (Q73*)	Single nucleotide variant (nonsense)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic
Select item 3241627	NM_024301.5(FKRP):c.261_271del (p.Tyr88fs)	FKRP (Y88fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 597390	NM_024301.5(FKRP):c.264C>G (p.Tyr88Ter)	FKRP (Y88*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +1 more	GPathogenic/Likely pathogenic
Select item 2732525	NM_024301.5(FKRP):c.265C>G (p.Pro89Ala)	FKRP (P89A)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +1 more	GPathogenic/Likely pathogenic
Select item 551007	NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)	FKRP (P89L)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 284644	NM_024301.5(FKRP):c.313C>T (p.Gln105Ter)	FKRP (Q105*)	Single nucleotide variant (nonsense)	Walker-Warburg congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 857909	NM_024301.5(FKRP):c.323T>C (p.Leu108Pro)	FKRP (L108P)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +3 more	GConflicting classifications of pathogenicity
Select item 408718	NM_024301.5(FKRP):c.328C>T (p.Arg110Trp)	FKRP (R110W)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B5 +6 more	GConflicting classifications of pathogenicity
Select item 2675713	NM_024301.5(FKRP):c.352G>T (p.Glu118Ter)	FKRP (E118*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 2675712	NM_024301.5(FKRP):c.433_455del (p.Val145fs)	FKRP (V145fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 2138310	NM_024301.5(FKRP):c.447_451del (p.Ala150fs)	FKRP (A150fs)	Deletion (frameshift variant)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic
Select item 2577157	NM_024301.5(FKRP):c.469G>C (p.Ala157Pro)	FKRP (A157P)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 557519	NM_024301.5(FKRP):c.502T>C (p.Cys168Arg)	FKRP (C168R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +2 more	GConflicting classifications of pathogenicity
Select item 1073047	NM_024301.5(FKRP):c.511_523del (p.Leu171fs)	FKRP (L171fs)	Deletion (frameshift variant)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 556102	NM_024301.5(FKRP):c.526C>T (p.Arg176Ter)	FKRP (R176*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2I +2 more	GPathogenic/Likely pathogenic
Select item 2675710	NM_024301.5(FKRP):c.544del (p.Tyr182fs)	FKRP (Y182fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 282247	NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)	FKRP (Y182C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +5 more	GPathogenic
Select item 282824	NM_024301.5(FKRP):c.586G>C (p.Gly196Arg)	FKRP (G196R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 2675701	NM_024301.5(FKRP):c.632del (p.Ser211fs)	FKRP (S211fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 4225	NM_024301.5(FKRP):c.663C>A (p.Ser221Arg)	FKRP (S221R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 3241631	NM_024301.5(FKRP):c.668_669del (p.Phe223fs)	FKRP (F223fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 1510930	NM_024301.5(FKRP):c.693G>C (p.Trp231Cys)	FKRP (W231C)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1934796	NM_024301.5(FKRP):c.712_713del (p.Leu238fs)	FKRP (L238fs)	Deletion (frameshift variant)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 3241625	NM_024301.5(FKRP):c.761_788dup (p.Ala263_Arg264insLeuGluGlyTer)	FKRP	Duplication (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 554104	NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)	FKRP (E260*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +4 more	GPathogenic/Likely pathogenic
Select item 2675709	NM_024301.5(FKRP):c.795_811del (p.Ala267fs)	FKRP (A267fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 498269	NM_024301.5(FKRP):c.823C>T (p.Arg275Cys)	FKRP (R275C)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 4221	NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	FKRP (L276I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +21 more	GPathogenic/Likely pathogenic
Select item 1199351	NM_024301.5(FKRP):c.854A>C (p.Glu285Ala)	FKRP (E285A)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 3241623	NM_024301.5(FKRP):c.858G>A (p.Trp286Ter)	FKRP (W286*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 1365203	NM_024301.5(FKRP):c.892G>T (p.Gly298Ter)	FKRP (G298*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +1 more	GPathogenic/Likely pathogenic
Select item 241460	NM_024301.5(FKRP):c.898G>A (p.Val300Met)	FKRP (V300M)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +8 more	GConflicting classifications of pathogenicity
Select item 4232	NM_024301.5(FKRP):c.899T>C (p.Val300Ala)	FKRP (V300A)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +7 more	GPathogenic/Likely pathogenic
Select item 4233	NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)	FKRP (Y307N)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1028300	NM_024301.5(FKRP):c.920A>G (p.Tyr307Cys)	FKRP (Y307C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GUncertain significance
Select item 4218	NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys)	FKRP (Y309C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +1 more	GLikely pathogenic
Select item 550361	NM_024301.5(FKRP):c.928G>T (p.Glu310Ter)	FKRP (E310*)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 2675699	NM_024301.5(FKRP):c.938G>A (p.Trp313Ter)	FKRP (W313*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GPathogenic
Select item 96115	NM_024301.5(FKRP):c.941C>T (p.Thr314Met)	FKRP (T314M)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +4 more	GPathogenic
Select item 664273	NM_024301.5(FKRP):c.948del (p.Cys317fs)	FKRP (C317fs)	Deletion (frameshift variant)	Walker-Warburg congenital muscular dystrophy +5 more	GPathogenic
Select item 197346	NM_024301.5(FKRP):c.946C>T (p.Pro316Ser)	FKRP (P316S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +3 more	GConflicting classifications of pathogenicity
Select item 197347	NM_024301.5(FKRP):c.947C>G (p.Pro316Arg)	FKRP (P316R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +5 more	GPathogenic/Likely pathogenic
Select item 3241630	NM_024301.5(FKRP):c.951C>A (p.Cys317Ter)	FKRP (C317*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 4234	NM_024301.5(FKRP):c.953G>A (p.Cys318Tyr)	FKRP (C318Y)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 930906	NM_024301.5(FKRP):c.962C>A (p.Ala321Glu)	FKRP (A321E)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic
Select item 2675703	NM_024301.5(FKRP):c.984T>A (p.Tyr328Ter)	FKRP (Y328*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 2675696	NM_024301.5(FKRP):c.1000G>T (p.Glu334Ter)	FKRP (E334*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 2675707	NM_024301.5(FKRP):c.1020C>G (p.Tyr340Ter)	FKRP (Y340*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GPathogenic
Select item 2675702	NM_024301.5(FKRP):c.1022G>A (p.Trp341Ter)	FKRP (W341*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 2675705	NM_024301.5(FKRP):c.1067T>C (p.Ile356Thr)	FKRP (I356T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 167072	NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)	FKRP (P358L)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 3241626	NM_024301.5(FKRP):c.1077G>A (p.Trp359Ter)	FKRP (W359*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 950839	NM_024301.5(FKRP):c.1083C>G (p.Tyr361Ter)	FKRP (Y361*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2675714	NM_024301.5(FKRP):c.1104C>A (p.Tyr368Ter)	FKRP (Y368*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 2675704	NM_024301.5(FKRP):c.1117_1124del (p.Gly373fs)	FKRP (G373fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 556419	NM_024301.5(FKRP):c.1141dup (p.Ala381fs)	FKRP (A381fs)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +3 more	GPathogenic/Likely pathogenic
Select item 4219	NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter)	FKRP (S385*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +3 more	GPathogenic
Select item 2675711	NM_024301.5(FKRP):c.1168_1177dup (p.Val393fs)	FKRP (V393fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 558649	NM_024301.5(FKRP):c.1170_1171del (p.Gly391fs)	FKRP (G391fs)	Microsatellite (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +2 more	GPathogenic
Select item 2913953	NM_024301.5(FKRP):c.1208dup (p.Arg404fs)	FKRP (R404fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +1 more	GPathogenic/Likely pathogenic
Select item 2675700	NM_024301.5(FKRP):c.1210C>T (p.Arg404Cys)	FKRP (R404C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +1 more	GConflicting classifications of pathogenicity
Select item 4227	NM_024301.5(FKRP):c.1213G>T (p.Val405Leu)	FKRP (V405L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 2675708	NM_024301.5(FKRP):c.1216C>T (p.Gln406Ter)	FKRP (Q406*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GPathogenic
Select item 289096	NM_024301.5(FKRP):c.1267del (p.Arg423fs)	FKRP (R423fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +3 more	GPathogenic/Likely pathogenic
Select item 289093	NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter)	FKRP (N424*)	Insertion (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +3 more	GPathogenic/Likely pathogenic
Select item 1700573	NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys)	FKRP (E443K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 2675695	NM_024301.5(FKRP):c.1336del (p.Leu446fs)	FKRP (L446fs)	Deletion (frameshift variant)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1363110	NM_024301.5(FKRP):c.1335_1336del (p.Leu446fs)	FKRP (L446fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +1 more	GPathogenic/Likely pathogenic
Select item 4220	NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)	FKRP (P448L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +6 more	GPathogenic/Likely pathogenic
Select item 4226	NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)	FKRP (A455D)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 4235	NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)	FKRP (N463D)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +8 more	GPathogenic/Likely pathogenic
Select item 556028	NM_024301.5(FKRP):c.1415del (p.Lys472fs)	FKRP (K472fs)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GLikely pathogenic
Select item 528825	NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr)	FKRP (I478T)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +4 more	GPathogenic/Likely pathogenic

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Items: 81