"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC102723 - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 255143	NM_001114753.3(ENG):c.1687-7C>T	LOC102723566, ENG	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 2637159	NM_001114753.3(ENG):c.1664_1676del (p.Pro555fs)	ENG, LOC102723566 (P373fs +1 more)	Deletion (frameshift variant)	ENG-related disorder	GLikely pathogenic
Select item 528076	NM_001114753.3(ENG):c.1671C>T (p.Thr557=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +2 more	GLikely benign
Select item 213212	NM_001114753.3(ENG):c.1586G>A (p.Arg529His)	ENG, LOC102723566 (R529H +1 more)	Single nucleotide variant (missense variant)	Hereditary hemorrhagic telangiectasia +4 more	GConflicting classifications of pathogenicity
Select item 2637077	NM_001114753.3(ENG):c.1522C>T (p.Gln508Ter)	ENG, LOC102723566 (Q326* +1 more)	Single nucleotide variant (nonsense)	ENG-related disorder	GPathogenic
Select item 1466744	NM_001114753.3(ENG):c.1517T>A (p.Leu506His)	ENG, LOC102723566 (L324H +1 more)	Single nucleotide variant (missense variant)	ENG-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3051408	NM_001114753.3(ENG):c.1499_1512del (p.Glu500fs)	ENG, LOC102723566 (E318fs +1 more)	Deletion (frameshift variant)	ENG-related disorder	GLikely pathogenic
Select item 161231	NM_001114753.3(ENG):c.1510G>A (p.Val504Met)	LOC102723566, ENG (V504M +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign FDA Recognized database
Select item 255142	NM_001114753.3(ENG):c.1452C>T (p.Ser484=)	ENG, LOC102723566	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 414304	NM_001114753.3(ENG):c.1447G>A (p.Val483Ile)	ENG, LOC102723566 (V483I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemorrhagic telangiectasia +2 more	GConflicting classifications of pathogenicity
Select item 213202	NM_001114753.3(ENG):c.1374A>G (p.Pro458=)	ENG, LOC102723566	Single nucleotide variant (synonymous variant)	Hereditary hemorrhagic telangiectasia +4 more	GBenign/Likely benign
Select item 237017	NM_001114753.3(ENG):c.1273-4G>A	ENG, LOC102723566	Single nucleotide variant (intron variant)	Hereditary hemorrhagic telangiectasia +2 more	GLikely benign
Select item 982495	NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser)	ENG, LOC102723566 (N241S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 429506	NM_001114753.3(ENG):c.1195_1196del (p.Arg399fs)	ENG, LOC102723566 (R217fs +1 more)	Deletion (frameshift variant)	ENG-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 567802	NM_001114753.3(ENG):c.1169G>A (p.Trp390Ter)	ENG, LOC102723566 (W390* +1 more)	Single nucleotide variant (nonsense)	ENG-related disorder +2 more	GPathogenic