"GeneDx"[submitter] AND "CABIN1"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1238381	NM_012295.4(CABIN1):c.345+326=	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250878	NM_012295.4(CABIN1):c.673G>A (p.Asp225Asn)	CABIN1 (D225N)	Single nucleotide variant (missense variant +1 more)	CABIN1-related condition +1 more	GBenign
Select item 1251288	NM_012295.4(CABIN1):c.807-301=	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236549	NM_012295.4(CABIN1):c.1262+62=	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265851	NM_012295.4(CABIN1):c.1399+79G>C	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267949	NM_012295.4(CABIN1):c.1617+104T>C	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278820	NM_012295.4(CABIN1):c.1697-21C>T	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242118	NM_012295.4(CABIN1):c.1884+91TG[12]	CABIN1	Microsatellite (intron variant)	not provided	GBenign
Select item 1225482	NM_012295.4(CABIN1):c.1980A>C (p.Arg660Ser)	CABIN1 (R610S +1 more)	Single nucleotide variant (missense variant)	CABIN1-related condition +1 more	GBenign
Select item 1228571	NM_012295.4(CABIN1):c.2037+140T>C	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226945	NM_012295.4(CABIN1):c.2223T>G (p.Leu741=)	CABIN1	Single nucleotide variant (synonymous variant)	CABIN1-related condition +1 more	GBenign
Select item 1225412	NM_012295.4(CABIN1):c.2476-182=	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289101	NM_012295.4(CABIN1):c.2476-120dup	CABIN1	Duplication (intron variant)	not provided	GBenign
Select item 1175524	NM_012295.4(CABIN1):c.2558G>A (p.Arg853Gln)	CABIN1 (R803Q +1 more)	Single nucleotide variant (missense variant)	CABIN1-related condition +1 more	GBenign
Select item 1266480	NM_012295.4(CABIN1):c.2633-149C>A	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234413	NM_012295.4(CABIN1):c.2688C>T (p.His896=)	CABIN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1237007	NM_012295.4(CABIN1):c.2748+37=	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258993	NM_012295.4(CABIN1):c.2761C>G (p.Gln921Glu)	CABIN1 (Q871E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1243979	NM_012295.4(CABIN1):c.2911-29=	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182869	NM_012295.4(CABIN1):c.3728G>A (p.Arg1243His)	CABIN1 (R1193H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1276628	NM_012295.4(CABIN1):c.3938+16=	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272502	NM_012295.4(CABIN1):c.4300+120C>T	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246220	NM_012295.4(CABIN1):c.4747-114C>G	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263492	NM_012295.4(CABIN1):c.4911-134A>G	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277647	NM_012295.4(CABIN1):c.5745C>T (p.Ala1915=)	CABIN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1220594	NM_012295.4(CABIN1):c.5757+159G>T	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230655	NM_012295.4(CABIN1):c.5757+293C>T	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257006	NM_012295.4(CABIN1):c.5758-175C>G	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231163	NM_012295.4(CABIN1):c.5758-73C>T	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291817	NM_012295.4(CABIN1):c.6040+46A>G	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288227	NM_012295.4(CABIN1):c.6041-227G>A	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296752	NM_012295.4(CABIN1):c.6041-45G>A	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268526	NM_012295.4(CABIN1):c.6206-37G>A	CABIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 770473	NM_012295.4(CABIN1):c.6327C>T (p.Ala2109=)	CABIN1	Single nucleotide variant (synonymous variant)	CABIN1-related condition +1 more	GBenign
Select item 1231640	NM_012295.4(CABIN1):c.*125T>C	CABIN1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253500	GRCh37/hg19 22q11.23(chr22:24401196-25010751)x3	ADORA2A, SPECC1L +8 more	Copy number gain	See cases	GPathogenic
Select item 253485	GRCh37/hg19 22q11.22-11.23(chr22:22976696-25053311)x3	GSTT2B, VPREB3 +32 more	Copy number gain	See cases	GPathogenic
Select item 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic
Select item 253435	GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046803)x3	RSPH14, SNRPD3 +29 more	Copy number gain	See cases	GPathogenic

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Items: 40