"GeneDx"[submitter] AND "SERPINB8"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	ALPK2, ATP8B1 +340 more	Copy number loss	See cases	GPathogenic
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 1262057	NM_002640.4(SERPINB8):c.203G>A (p.Arg68Gln)	SERPINB8 (R68Q)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 1178309	NM_002640.4(SERPINB8):c.306+94C>T	SERPINB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282685	NM_002640.4(SERPINB8):c.306+307A>T	SERPINB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261171	NM_002640.4(SERPINB8):c.307-230C>T	SERPINB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274369	NM_002640.4(SERPINB8):c.307-118G>A	SERPINB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250123	NM_002640.4(SERPINB8):c.424+98A>G	SERPINB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263303	NM_002640.4(SERPINB8):c.477G>A (p.Leu159=)	SERPINB8	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GBenign
Select item 1241636	NM_002640.4(SERPINB8):c.568-292G>A	SERPINB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256825	NM_002640.4(SERPINB8):c.568-203dup	SERPINB8	Duplication (intron variant)	not provided	GBenign
Select item 1224087	NM_002640.4(SERPINB8):c.568-204_568-203dup	SERPINB8	Duplication (intron variant)	not provided	GBenign
Select item 1249604	NM_002640.4(SERPINB8):c.720+95T>C	SERPINB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275916	NM_002640.4(SERPINB8):c.720+240T>G	SERPINB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262390	NM_002640.4(SERPINB8):c.721-538C>G	SERPINB8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1234066	NM_002640.4(SERPINB8):c.910A>G (p.Thr304Ala)	SERPINB8 (T122A +2 more)	Single nucleotide variant (missense variant +3 more)	Peeling skin syndrome 5 +1 more	GBenign
Select item 1268766	NM_002640.4(SERPINB8):c.942C>T (p.Ala314=)	SERPINB8	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 1220688	NM_002640.4(SERPINB8):c.1076A>G (p.His359Arg)	SERPINB8 (H177R +2 more)	Single nucleotide variant (missense variant +3 more)	Peeling skin syndrome 5 +1 more	GBenign
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253575	GRCh37/hg19 18q21.32-23(chr18:58525322-78005236)x3	SOCS6, SERPINB10 +58 more	Copy number gain	See cases	GPathogenic
Select item 253425	GRCh37/hg19 18q21.32-22.2(chr18:58014591-68158862)x1	CDH19, CDH7 +29 more	Copy number loss	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic

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Items: 24