"PreventionGenetics, part of Exact Sciences"[submitter] AND "ILDR1"[ge - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 44142	NM_001199799.2(ILDR1):c.1581G>A (p.Gly527=)	ILDR1	Single nucleotide variant (synonymous variant)	ILDR1-related disorder +2 more	GBenign/Likely benign
Select item 44141	NM_001199799.2(ILDR1):c.1545T>G (p.Leu515=)	ILDR1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 44140	NM_001199799.2(ILDR1):c.1498C>T (p.His500Tyr)	ILDR1 (H500Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3036563	NM_001199799.2(ILDR1):c.1434C>G (p.Ser478=)	ILDR1	Single nucleotide variant (synonymous variant)	ILDR1-related disorder	GLikely benign
Select item 44139	NM_001199799.2(ILDR1):c.1325G>A (p.Arg442His)	ILDR1 (R442H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 44137	NM_001199799.2(ILDR1):c.1238T>C (p.Ile413Thr)	ILDR1 (I413T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 227441	NM_001199799.2(ILDR1):c.801C>G (p.Leu267=)	ILDR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 44145	NM_001199799.2(ILDR1):c.791C>G (p.Pro264Arg)	ILDR1 (P264R +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1027550	NM_001199799.2(ILDR1):c.775C>T (p.Arg259Ter)	ILDR1 (R170* +1 more)	Single nucleotide variant (nonsense +1 more)	ILDR1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 163700	NM_001199799.2(ILDR1):c.483A>T (p.Val161=)	ILDR1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign