ClinVar (all) for Orgtrack (Select 506684) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 559543	NM_001184.4(ATR):c.151+4A>G	ATR	Single nucleotide variant (intron variant)	Seckel syndrome 1	GLikely pathogenic
Select item 559542	NM_001184.4(ATR):c.4995G>T (p.Lys1665Asn)	ATR (K1665N +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 1	GLikely pathogenic