"GeneDx"[submitter] AND "LOC126862798"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 152928	GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	ADNP2, ATP9B +429 more	Copy number loss	See cases	GPathogenic
Select item 60003	GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1	ADNP2, ATP9B +373 more	Copy number loss	See cases	GPathogenic
Select item 60034	GRCh38/hg38 18q22.3-23(chr18:74207209-79351148)x1	ATP9B, C18orf63 +149 more	Copy number loss	See cases	GPathogenic
Select item 3378203	NM_017757.3(ZNF407):c.2403dup (p.Gly802fs)	LOC126862798, ZNF407 (G802fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 689344	NM_017757.3(ZNF407):c.2425T>C (p.Ser809Pro)	LOC126862798, ZNF407 (S809P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1336071	NM_017757.3(ZNF407):c.2552C>T (p.Thr851Met)	LOC126862798, ZNF407 (T851M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1804591	NM_017757.3(ZNF407):c.2761G>T (p.Val921Phe)	LOC126862798, ZNF407 (V921F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 689354	NM_017757.3(ZNF407):c.2884C>G (p.Arg962Gly)	LOC126862798, ZNF407 (R962G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367746	NM_017757.3(ZNF407):c.2897T>C (p.Ile966Thr)	LOC126862798, ZNF407 (I966T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 212664	NM_017757.3(ZNF407):c.3072T>G (p.Phe1024Leu)	LOC126862798, ZNF407 (F1024L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2504816	NM_017757.3(ZNF407):c.3427T>C (p.Cys1143Arg)	LOC126862798, ZNF407 (C1143R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662473	NM_017757.3(ZNF407):c.3430G>A (p.Ala1144Thr)	LOC126862798, ZNF407 (A1144T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance