"ERI1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3060400	NM_153332.4(ERI1):c.47T>C (p.Leu16Pro)	ERI1 (L16P)	Single nucleotide variant (5 prime UTR variant +1 more)	ERI1-related disorder	GBenign
Select item 3055311	NM_153332.4(ERI1):c.71C>G (p.Pro24Arg)	ERI1 (P24R)	Single nucleotide variant (5 prime UTR variant +1 more)	ERI1-related disorder	GLikely benign
Select item 3042758	NM_153332.4(ERI1):c.109-18_109-6del	ERI1	Deletion (intron variant)	ERI1-related disorder	GLikely benign
Select item 3037479	NM_153332.4(ERI1):c.109-11_109-6del	ERI1	Duplication (intron variant)	ERI1-related disorder	GLikely benign
Select item 712692	NM_153332.4(ERI1):c.109-9T>G	ERI1	Single nucleotide variant (intron variant)	ERI1-related disorder +1 more	GBenign/Likely benign
Select item 3058455	NM_153332.4(ERI1):c.166T>C (p.Ser56Pro)	ERI1 (S56P)	Single nucleotide variant (5 prime UTR variant +1 more)	ERI1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3034826	NM_153332.4(ERI1):c.327T>C (p.Tyr109=)	ERI1	Single nucleotide variant (synonymous variant +1 more)	ERI1-related disorder	GLikely benign
Select item 3033956	NM_153332.4(ERI1):c.417T>C (p.Cys139=)	ERI1	Single nucleotide variant (synonymous variant)	ERI1-related disorder	GLikely benign
Select item 3059941	NM_153332.4(ERI1):c.435T>G (p.Pro145=)	ERI1	Single nucleotide variant (synonymous variant)	ERI1-related disorder	GBenign
Select item 3052423	NM_153332.4(ERI1):c.435T>A (p.Pro145=)	ERI1	Single nucleotide variant (synonymous variant)	ERI1-related disorder	GLikely benign
Select item 3049051	NM_153332.4(ERI1):c.555C>T (p.Phe185=)	ERI1	Single nucleotide variant (synonymous variant)	ERI1-related disorder	GLikely benign
Select item 3034307	NM_153332.4(ERI1):c.582+10C>T	ERI1	Single nucleotide variant (intron variant)	ERI1-related disorder	GLikely benign
Select item 3047058	NM_153332.4(ERI1):c.583-9T>C	ERI1	Single nucleotide variant (intron variant)	ERI1-related disorder	GLikely benign
Select item 2632656	NM_153332.4(ERI1):c.711G>C (p.Lys237Asn)	ERI1 (K122N +2 more)	Single nucleotide variant (missense variant)	ERI1-related disorder	GUncertain significance