"GeneDx"[submitter] AND "SERPIND1"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59232	GRCh38/hg38 22q11.21(chr22:20363880-21073647)x1	LOC132090638, LOC132090918 +62 more	Copy number loss	See cases	GPathogenic
Select item 59234	GRCh38/hg38 22q11.21(chr22:20379137-21151128)x1	AIFM3, CRKL +61 more	Copy number loss	See cases	GPathogenic
Select item 58214	GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3	AIFM3, CCDC116 +123 more	Copy number gain	See cases	GPathogenic
Select item 145120	GRCh38/hg38 22q11.21(chr22:20711594-21583391)x1	AIFM3, CRKL +52 more	Copy number loss	See cases	GPathogenic
Select item 2507384	NM_000185.4(SERPIND1):c.218G>A (p.Gly73Glu)	PI4KA, SERPIND1 (G73E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1268540	NM_058004.4(PI4KA):c.2328+13650G>A	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1269862	NM_000185.4(SERPIND1):c.285C>T (p.Ile95=)	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 393085	NM_000185.4(SERPIND1):c.980A>C (p.Gln327Pro)	SERPIND1, PI4KA (Q327P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1302931	NM_000185.4(SERPIND1):c.1070T>C (p.Ile357Thr)	PI4KA, SERPIND1 (I357T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1804598	NM_000185.4(SERPIND1):c.1168C>T (p.Arg390Ter)	PI4KA, SERPIND1 (R390*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1260560	NM_058004.4(PI4KA):c.2328+6181A>G	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 253902	GRCh37/hg19 22q11.21(chr22:21056165-21440514)x3	THAP7, P2RX6 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253719	GRCh37/hg19 22q11.21(chr22:20958986-21440514)x3	THAP7, LZTR1 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253550	GRCh37/hg19 22q11.21(chr22:18650664-21440514)x3	AIFM3, ARVCF +46 more	Copy number gain	See cases	GPathogenic
Select item 253528	GRCh37/hg19 22q11.21-11.23(chr22:20749625-23972878)x1	AIFM3, BCR +40 more	Copy number loss	See cases	GPathogenic
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 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic
Select item 253443	GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3	GGTLC3, GNB1L +84 more	Copy number gain	See cases	GPathogenic
Select item 253416	GRCh37/hg19 22q11.21(chr22:18900442-21440514)x1	AIFM3, ARVCF +44 more	Copy number loss	See cases	GPathogenic
Select item 253401	GRCh37/hg19 22q11.21(chr22:18894835-21440514)x1	AIFM3, ARVCF +45 more	Copy number loss	See cases	GPathogenic
Select item 253390	GRCh37/hg19 22q11.21(chr22:18894339-21440514)x1	AIFM3, ARVCF +45 more	Copy number loss	See cases	GPathogenic
Select item 253383	GRCh37/hg19 22q11.21(chr22:19023801-21440514)x1	CLTCL1, COMT +43 more	Copy number loss	See cases	GPathogenic
Select item 253361	GRCh37/hg19 22q11.21(chr22:21074920-21440514)x1	SLC7A4, CRKL +7 more	Copy number loss	See cases	GLikely pathogenic

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Items: 23