ClinVar for MedGen (Select 461764) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065575	NM_133642.5(LARGE1):c.1355C>T (p.Thr452Ile)	LARGE1 (T199I +3 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	GUncertain significance
Select item 1032932	NM_133642.5(LARGE1):c.1612G>A (p.Gly538Ser)	LARGE1 (G486S +3 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	GUncertain significance
Select item 1029891	NM_133642.5(LARGE1):c.2228G>A (p.Gly743Asp)	LARGE1 (G542D +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029890	NM_133642.5(LARGE1):c.1553A>C (p.Gln518Pro)	LARGE1 (Q317P +3 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	GUncertain significance
Select item 1006789	NM_133642.5(LARGE1):c.1903G>A (p.Ala635Thr)	LARGE1 (A333T +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6	GUncertain significance
Select item 903100	NM_133642.5(LARGE1):c.-500T>C	LARGE1, LOC130067281	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 903046	NM_133642.5(LARGE1):c.-194G>A	LARGE1	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GUncertain significance
Select item 902997	NM_133642.5(LARGE1):c.220G>A (p.Glu74Lys)	LARGE1 (E74K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +2 more	GUncertain significance
Select item 902996	NM_133642.5(LARGE1):c.227A>C (p.Asn76Thr)	LARGE1 (N76T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +2 more	GUncertain significance
Select item 902995	NM_133642.5(LARGE1):c.230G>A (p.Arg77His)	LARGE1 (R77H)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 902872	NM_133642.5(LARGE1):c.2070G>A (p.Val690=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 902819	NM_133642.5(LARGE1):c.*566G>A	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 902818	NM_133642.5(LARGE1):c.*639T>G	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GUncertain significance
Select item 902760	NM_133642.5(LARGE1):c.*1229G>A	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 902215	NM_133642.5(LARGE1):c.-377C>G	LARGE1	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 902165	NM_133642.5(LARGE1):c.-47C>T	LARGE1	Single nucleotide variant (5 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GUncertain significance
Select item 902109	NM_133642.5(LARGE1):c.460G>A (p.Val154Ile)	LARGE1 (V154I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +2 more	GUncertain significance
Select item 902108	NM_133642.5(LARGE1):c.479T>G (p.Val160Gly)	LARGE1 (V160G)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GUncertain significance
Select item 902052	NM_133642.5(LARGE1):c.1389C>T (p.Tyr463=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GConflicting classifications of pathogenicity
Select item 902051	NM_133642.5(LARGE1):c.1426C>A (p.Leu476Met)	LARGE1 (L223M +3 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GUncertain significance
Select item 901973	NM_133642.5(LARGE1):c.2073+12G>A	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GConflicting classifications of pathogenicity
Select item 901972	NM_133642.5(LARGE1):c.2212A>G (p.Met738Val)	LARGE1 (M537V +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 901908	NM_133642.5(LARGE1):c.*699G>A	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 901481	NM_133642.5(LARGE1):c.1600G>A (p.Val534Met)	LARGE1 (V333M +3 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 901424	NM_133642.5(LARGE1):c.*155C>T	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 901423	NM_133642.5(LARGE1):c.*186C>T	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GUncertain significance
Select item 900444	NM_133642.5(LARGE1):c.492-6C>G	LARGE1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 900384	NM_133642.5(LARGE1):c.1005+15T>G	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GConflicting classifications of pathogenicity
Select item 900198	NM_133642.5(LARGE1):c.*969G>A	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GUncertain significance
Select item 900197	NM_133642.5(LARGE1):c.*995T>C	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GUncertain significance
Select item 899475	NM_133642.5(LARGE1):c.-527C>T	LARGE1, LOC130067281	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 899426	NM_133642.5(LARGE1):c.-202C>A	LARGE1	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 704457	NM_133642.5(LARGE1):c.99C>T (p.Ser33=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +2 more	GConflicting classifications of pathogenicity
Select item 586123	NM_133642.5(LARGE1):c.941A>T (p.Gln314Leu)	LARGE1 (Q314L +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +2 more	GUncertain significance
Select item 579774	NM_133642.5(LARGE1):c.1413C>A (p.Ser471Arg)	LARGE1 (S471R +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 562016	NM_133642.5(LARGE1):c.1033_1034dup (p.Asn345fs)	LARGE1 (N345fs +1 more)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	GLikely pathogenic
Select item 533121	NM_133642.5(LARGE1):c.584G>A (p.Arg195His)	LARGE1 (R195H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 516143	NM_133642.5(LARGE1):c.1878-11G>T	LARGE1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 495057	NM_133642.5(LARGE1):c.283C>T (p.Arg95Ter)	LARGE1 (R95*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	GPathogenic
Select item 464471	NM_133642.5(LARGE1):c.188A>G (p.Glu63Gly)	LARGE1 (E63G)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GUncertain significance
Select item 379184	NM_133642.5(LARGE1):c.-83+63202T>G	LARGE1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 341457	NM_133642.5(LARGE1):c.-481G>T	LARGE1, LOC130067281	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341456	NM_133642.5(LARGE1):c.-480C>T	LARGE1, LOC130067281	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341455	NM_133642.5(LARGE1):c.-455G>A	LARGE1	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GUncertain significance
Select item 341454	NM_133642.5(LARGE1):c.-399A>T	LARGE1	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GUncertain significance
Select item 341453	NM_133642.5(LARGE1):c.-397C>G	LARGE1	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GBenign
Select item 341452	NM_133642.5(LARGE1):c.-359C>G	LARGE1	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GUncertain significance
Select item 341451	NM_133642.5(LARGE1):c.-343C>A	LARGE1	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GUncertain significance
Select item 341450	NM_133642.5(LARGE1):c.-292G>C	LARGE1	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341449	NM_133642.5(LARGE1):c.-287A>G	LARGE1	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341448	NM_133642.5(LARGE1):c.-277T>G	LARGE1	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341447	NM_133642.5(LARGE1):c.-271G>A	LARGE1	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GUncertain significance
Select item 341446	NM_133642.5(LARGE1):c.-247T>G	LARGE1	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341445	NM_133642.5(LARGE1):c.-242C>T	LARGE1	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GUncertain significance
Select item 341444	NM_133642.5(LARGE1):c.-177C>T	LARGE1, LOC130067280	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +2 more	GBenign
Select item 341443	NM_133642.5(LARGE1):c.-149G>C	LARGE1, LOC130067280	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GBenign
Select item 341442	NM_133642.5(LARGE1):c.-83+63184A>C	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341441	NM_133642.5(LARGE1):c.-83+63217G>C	LARGE1	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GBenign
Select item 341439	NM_133642.5(LARGE1):c.26G>A (p.Arg9Gln)	LARGE1 (R9Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 341438	NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala)	LARGE1 (T55A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 341437	NM_133642.5(LARGE1):c.178C>T (p.Arg60Trp)	LARGE1 (R60W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 341436	NM_133642.5(LARGE1):c.506A>G (p.His169Arg)	LARGE1 (H169R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341435	NM_133642.5(LARGE1):c.857G>A (p.Arg286His)	LARGE1 (R286H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 341434	NM_133642.5(LARGE1):c.1287C>T (p.Asn429=)	LARGE1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 341433	NM_133642.5(LARGE1):c.1320C>T (p.Asp440=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6 +2 more	GConflicting classifications of pathogenicity
Select item 341432	NM_133642.5(LARGE1):c.2073+11C>T	LARGE1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GConflicting classifications of pathogenicity
Select item 341431	NM_133642.5(LARGE1):c.2208G>A (p.Gln736=)	LARGE1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 341430	NM_133642.5(LARGE1):c.*100C>A	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GUncertain significance
Select item 341429	NM_133642.5(LARGE1):c.*154C>A	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +2 more	GBenign
Select item 341428	NM_133642.5(LARGE1):c.*207G>A	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +2 more	GBenign/Likely benign
Select item 341427	NM_133642.5(LARGE1):c.*455C>T	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341426	NM_133642.5(LARGE1):c.*479A>T	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341425	NM_133642.5(LARGE1):c.*499G>A	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341424	NM_133642.5(LARGE1):c.*501T>C	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341423	NM_133642.5(LARGE1):c.*580C>T	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341422	NM_133642.5(LARGE1):c.*740A>G	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GBenign
Select item 341420	NM_133642.5(LARGE1):c.*796C>T	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GLikely benign
Select item 341419	NM_133642.5(LARGE1):c.*798G>A	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341417	NM_133642.5(LARGE1):c.*833A>G	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341416	NM_133642.5(LARGE1):c.*849C>T	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GUncertain significance
Select item 341415	NM_133642.5(LARGE1):c.*856G>A	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GBenign
Select item 341414	NM_133642.5(LARGE1):c.*921C>G	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GBenign
Select item 341413	NM_133642.5(LARGE1):c.*998A>G	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy type B6 +1 more	GUncertain significance
Select item 341412	NM_133642.5(LARGE1):c.*1201A>G	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GBenign
Select item 341411	NM_133642.5(LARGE1):c.*1235A>G	LARGE1	Single nucleotide variant (3 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more	GLikely benign
Select item 289726	NM_133642.5(LARGE1):c.1092C>T (p.Thr364=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 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 +4 more	GBenign/Likely benign
Select item 211369	NM_133642.5(LARGE1):c.1599C>T (p.Ile533=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +3 more	GConflicting classifications of pathogenicity
Select item 194517	NM_133642.5(LARGE1):c.1962G>A (p.Glu654=)	LARGE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 167250	NM_133642.5(LARGE1):c.1788G>A (p.Ala596=)	LARGE1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 158808	NM_133642.5(LARGE1):c.552G>A (p.Thr184=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +2 more	GBenign
Select item 158807	NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys)	LARGE1 (E71K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +4 more	GConflicting classifications of pathogenicity
Select item 158805	NM_133642.5(LARGE1):c.165G>C (p.Thr55=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +2 more	GBenign
Select item 158804	NM_133642.5(LARGE1):c.1008T>C (p.Asp336=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +2 more	GBenign
Select item 138075	NM_133642.5(LARGE1):c.-63C>T	LARGE1	Single nucleotide variant (5 prime UTR variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +2 more	GBenign
Select item 95176	NM_133642.5(LARGE1):c.576C>T (p.Pro192=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6 +2 more	GBenign
Select item 95175	NM_133642.5(LARGE1):c.435C>T (p.Ala145=)	LARGE1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 95174	NM_133642.5(LARGE1):c.309C>T (p.Ser103=)	LARGE1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy type B6 +2 more	GBenign/Likely benign
Select item 95173	NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr)	LARGE1 (S84T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign

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