"Eurofins Ntd Llc (ga)"[submitter] AND "LARGE1"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 593861	NM_133642.5(LARGE1):c.2257G>A (p.Glu753Lys)	LARGE1 (E753K +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 95172	NM_133642.5(LARGE1):c.2100C>T (p.Asn700=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +3 more	GBenign/Likely benign
Select item 95171	NM_133642.5(LARGE1):c.1994G>A (p.Arg665His)	LARGE1 (R665H +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +3 more	GBenign/Likely benign
Select item 194516	NM_133642.5(LARGE1):c.1977G>A (p.Pro659=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 194515	NM_133642.5(LARGE1):c.1976C>T (p.Pro659Leu)	LARGE1 (P659L +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 194517	NM_133642.5(LARGE1):c.1962G>A (p.Glu654=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6 +2 more	GConflicting classifications of pathogenicity
Select item 95170	NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln)	LARGE1 (R650Q +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +3 more	GBenign/Likely benign
Select item 95169	NM_133642.5(LARGE1):c.1827A>G (p.Ser609=)	LARGE1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +3 more	GBenign
Select item 167250	NM_133642.5(LARGE1):c.1788G>A (p.Ala596=)	LARGE1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy type B6 +3 more	GConflicting classifications of pathogenicity
Select item 283538	NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile)	LARGE1 (M592I +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy type B6 +3 more	GBenign/Likely benign
Select item 95168	NM_133642.5(LARGE1):c.1731-24T>C	LARGE1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 501989	NM_133642.5(LARGE1):c.1705A>G (p.Met569Val)	LARGE1 (M569V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95167	NM_133642.5(LARGE1):c.1644C>T (p.Asn548=)	LARGE1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 259530	NM_133642.5(LARGE1):c.1611G>A (p.Glu537=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 211369	NM_133642.5(LARGE1):c.1599C>T (p.Ile533=)	LARGE1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 167251	NM_133642.5(LARGE1):c.1577G>A (p.Arg526His)	LARGE1 (R526H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 95166	NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6 +3 more	GBenign/Likely benign
Select item 95165	NM_133642.5(LARGE1):c.1452-28C>T	LARGE1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 95164	NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile)	LARGE1 (V474I +3 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +4 more	GUncertain significance
Select item 194060	NM_133642.5(LARGE1):c.1349G>A (p.Arg450His)	LARGE1 (R450H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 95163	NM_133642.5(LARGE1):c.1287+11C>T	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GConflicting classifications of pathogenicity
Select item 193883	NM_133642.5(LARGE1):c.1234C>T (p.Leu412=)	LARGE1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GConflicting classifications of pathogenicity
Select item 193882	NM_133642.5(LARGE1):c.1154A>G (p.Lys385Arg)	LARGE1 (K385R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 193881	NM_133642.5(LARGE1):c.1132-8C>T	LARGE1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 95161	NM_133642.5(LARGE1):c.1116C>T (p.Asp372=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GConflicting classifications of pathogenicity
Select item 95160	NM_133642.5(LARGE1):c.1102C>T (p.Gln368Ter)	LARGE1 (Q368* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 594721	NM_133642.5(LARGE1):c.1094G>A (p.Arg365His)	LARGE1 (R365H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289726	NM_133642.5(LARGE1):c.1092C>T (p.Thr364=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 193676	NM_133642.5(LARGE1):c.1071T>C (p.Asn357=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 158804	NM_133642.5(LARGE1):c.1008T>C (p.Asp336=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6 +2 more	GBenign
Select item 287758	NM_133642.5(LARGE1):c.909T>G (p.Leu303=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 95177	NM_133642.5(LARGE1):c.892+50C>T	LARGE1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 95176	NM_133642.5(LARGE1):c.576C>T (p.Pro192=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6 +3 more	GBenign
Select item 95175	NM_133642.5(LARGE1):c.435C>T (p.Ala145=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6 +3 more	GBenign
Select item 197241	NM_133642.5(LARGE1):c.408+8G>A	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6 +2 more	GConflicting classifications of pathogenicity
Select item 197242	NM_133642.5(LARGE1):c.391G>A (p.Val131Ile)	LARGE1 (V131I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +3 more	GConflicting classifications of pathogenicity
Select item 167252	NM_133642.5(LARGE1):c.334G>A (p.Glu112Lys)	LARGE1 (E112K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 95174	NM_133642.5(LARGE1):c.309C>T (p.Ser103=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6 +3 more	GBenign/Likely benign
Select item 95173	NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr)	LARGE1 (S84T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +3 more	GBenign/Likely benign
Select item 158807	NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys)	LARGE1 (E71K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +4 more	GConflicting classifications of pathogenicity
Select item 167253	NM_133642.5(LARGE1):c.210C>T (p.Arg70=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GConflicting classifications of pathogenicity
Select item 197240	NM_133642.5(LARGE1):c.179G>A (p.Arg60Gln)	LARGE1 (R60Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 95162	NM_133642.5(LARGE1):c.118G>A (p.Val40Met)	LARGE1 (V40M)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +2 more	GUncertain significance
Select item 167254	NM_133642.5(LARGE1):c.72C>T (p.Ile24=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 95159	NM_133642.5(LARGE1):c.-31G>A	LARGE1	Single nucleotide variant (5 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +3 more	GBenign/Likely benign

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Items: 45