"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ILDR1"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 809524	NM_001199799.2(ILDR1):c.1637T>C (p.Ile546Thr)	ILDR1 (I546T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44142	NM_001199799.2(ILDR1):c.1581G>A (p.Gly527=)	ILDR1	Single nucleotide variant (synonymous variant)	ILDR1-related condition +2 more	GBenign/Likely benign
Select item 2203411	NM_001199799.2(ILDR1):c.1358G>A (p.Arg453Gln)	ILDR1 (R409Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1013212	NM_001199799.2(ILDR1):c.1323C>T (p.Ser441=)	ILDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1181111	NM_001199799.2(ILDR1):c.1227T>C (p.Asn409=)	ILDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 872597	NM_001199799.2(ILDR1):c.866T>G (p.Leu289Trp)	ILDR1 (L200W +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 42 +1 more	GConflicting classifications of pathogenicity
Select item 809525	NM_001199799.2(ILDR1):c.641A>G (p.Glu214Gly)	ILDR1 (E214G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2722516	NM_001199799.2(ILDR1):c.486G>A (p.Lys162=)	ILDR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

ClinVar