ClinVar for MedGen (Select 1627841) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1647252	NM_005012.4(ROR1):c.1356G>C (p.Glu452Asp)	ROR1 (E452D)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 108 +1 more	GLikely benign
Select item 1424363	NM_005012.4(ROR1):c.1639C>T (p.Pro547Ser)	ROR1 (P547S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1284154	NM_005012.4(ROR1):c.1170G>T (p.Ala390=)	ROR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1260721	NM_005012.4(ROR1):c.1353A>G (p.Val451=)	ROR1	Single nucleotide variant (synonymous variant)	Hearing loss, autosomal recessive 108 +1 more	GBenign
Select item 1246995	NM_005012.4(ROR1):c.1553C>T (p.Thr518Met)	ROR1 (T518M)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 108 +1 more	GBenign
Select item 1240716	NM_005012.4(ROR1):c.180C>T (p.Leu60=)	ROR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1028328	NM_005012.4(ROR1):c.2728T>G (p.Tyr910Asp)	ROR1 (Y910D)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 108	GUncertain significance
Select item 437889	NM_005012.4(ROR1):c.2207G>C (p.Arg736Thr)	ROR1 (R736T)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 108	GPathogenic

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