"GeneDx"[submitter] AND "SPTBN1-AS2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 3370954	NM_003128.3(SPTBN1):c.6645_6647del (p.Lys2216del)	SPTBN1, SPTBN1-AS2 (K2216del)	Deletion (non-coding transcript variant)	not provided	GUncertain significance
Select item 1707867	NM_003128.3(SPTBN1):c.6665G>A (p.Trp2222Ter)	SPTBN1, SPTBN1-AS2 (W2222*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1318838	NM_003128.3(SPTBN1):c.6731C>A (p.Ala2244Asp)	SPTBN1, SPTBN1-AS2 (A2244D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3369390	NM_003128.3(SPTBN1):c.6904_6905del (p.Ile2302fs)	SPTBN1, SPTBN1-AS2 (I2302fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2662594	NM_003128.3(SPTBN1):c.6949A>G (p.Thr2317Ala)	SPTBN1, SPTBN1-AS2 (T2317A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar