"GeneDx"[submitter] AND "CHN1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58767	GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1	AGPS, ATF2 +150 more	Copy number loss	See cases	GPathogenic
Select item 421756	NM_001822.7(CHN1):c.1342G>A (p.Val448Met)	CHN1 (V448M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 423161	NM_001822.7(CHN1):c.1315A>G (p.Asn439Asp)	CHN1 (N439D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370874	NM_001822.7(CHN1):c.1217T>G (p.Leu406Arg)	CHN1 (L281R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2574198	NM_001822.7(CHN1):c.712G>T (p.Asp238Tyr)	CHN1 (D113Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 755716	NM_001822.7(CHN1):c.550-5C>T	CHN1 (S57L)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1308344	NM_001822.7(CHN1):c.470A>G (p.Tyr157Cys)	CHN1 (Y157C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 253337	GRCh37/hg19 2q31.1(chr2:174586724-176423918)x1	ATF2, ATP5MC3 +9 more	Copy number loss	See cases	GLikely pathogenic