"GeneDx"[submitter] AND "LOC126863169"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 59094	GRCh38/hg38 22q13.31(chr22:45954698-47245325)x3	CDPF1, CELSR1 +99 more	Copy number gain	See cases	GUncertain significance
Select item 59095	GRCh38/hg38 22q13.31(chr22:46281772-48028340)x3	CELSR1, CERK +75 more	Copy number gain	See cases	GUncertain significance
Select item 2446592	NM_001378328.1(CELSR1):c.6724G>T (p.Val2242Phe)	CELSR1, LOC126863169 (V2242F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442489	NM_001378328.1(CELSR1):c.6714del (p.Phe2239fs)	CELSR1, LOC126863169 (F2239fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2430808	NM_001378328.1(CELSR1):c.6577G>A (p.Ala2193Thr)	CELSR1, LOC126863169 (A2193T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317860	NM_001378328.1(CELSR1):c.6569C>T (p.Ser2190Leu)	CELSR1, LOC126863169 (S2190L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar