"Ambry Genetics"[submitter] AND "SCIMP"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2219795	NM_207103.3(SCIMP):c.271C>G (p.Leu91Val)	SCIMP, ZNF594-DT (L91V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316467	NM_207103.3(SCIMP):c.268T>G (p.Ser90Ala)	SCIMP, ZNF594-DT (S83A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158421	NM_207103.3(SCIMP):c.227C>T (p.Ser76Leu)	SCIMP, ZNF594-DT (S69L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158420	NM_207103.3(SCIMP):c.179A>G (p.His60Arg)	SCIMP, ZNF594-DT (H53R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158423	NM_207103.3(SCIMP):c.86T>C (p.Val29Ala)	SCIMP, ZNF594-DT (V29A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3158422	NM_207103.3(SCIMP):c.85G>A (p.Val29Ile)	SCIMP, ZNF594-DT (V29I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3316466	NM_207103.3(SCIMP):c.76G>A (p.Ala26Thr)	SCIMP, ZNF594-DT (A26T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2220155	NM_207103.3(SCIMP):c.12C>A (p.Phe4Leu)	SCIMP, ZNF594-DT (F4L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign