"Illumina Laboratory Services, Illumina"[submitter] AND "SMCHD1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 989325	NM_015295.3(SMCHD1):c.4823T>G (p.Ile1608Ser)	SMCHD1 (I1608S)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GUncertain significance
Select item 1328441	GRCh37/hg19 18p11.32-11.31(chr18:64647-4472031)x3	ADCYAP1, CETN1 +19 more	Copy number loss	not provided	GUncertain significance
Select item 1180530	GRCh37/hg19 18p11.32-11.31(chr18:64996-6838315)x1	CETN1, CLUL1 +25 more	Copy number loss	not provided	GPathogenic

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