"Ambry Genetics"[submitter] AND "LOC130067866"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235473	NM_001014440.4(CIMAP1B):c.733G>A (p.Ala245Thr)	CIMAP1B, LOC130067866 (A177T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267947	NM_001014440.4(CIMAP1B):c.683A>G (p.His228Arg)	CIMAP1B, LOC130067866 (H236R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance