"CeMIA"[submitter] AND "SERPING1"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 983229	NM_000062.3(SERPING1):c.51+101G>A	SERPING1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 983237	NM_000062.3(SERPING1):c.51+612GT[8]	SERPING1	Microsatellite (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983238	NM_000062.3(SERPING1):c.52-696C>T	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983239	NM_000062.3(SERPING1):c.52-130C>T	SERPING1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 983240	NM_000062.3(SERPING1):c.551-500C>G	SERPING1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 983241	NM_000062.3(SERPING1):c.551-495A>C	SERPING1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 983242	NM_000062.3(SERPING1):c.551-156A>G	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983243	NM_000062.3(SERPING1):c.551-155A>G	SERPING1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 92196	NM_000062.3(SERPING1):c.685+88G>A	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1 +1 more	GBenign
Select item 983245	NM_000062.3(SERPING1):c.685+1100C>T	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983246	NM_000062.3(SERPING1):c.686-1572G>T	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983247	NM_000062.3(SERPING1):c.686-1565G>A	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983248	NM_000062.3(SERPING1):c.686-1488_686-1487insT	SERPING1	Insertion (intron variant)	Hereditary angioedema type 1	GLikely benign
Select item 983249	NM_000062.3(SERPING1):c.686-1335T>A	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GLikely benign
Select item 983250	NM_000062.3(SERPING1):c.686-1333A>T	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GLikely benign
Select item 983251	NM_000062.3(SERPING1):c.686-957A>G	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983252	NM_000062.3(SERPING1):c.686-179A>G	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GLikely benign
Select item 1064580	NM_000062.3(SERPING1):c.890-14C>G	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1 +2 more	GLikely pathogenic
Select item 983253	NM_000062.3(SERPING1):c.1029+260G>A	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983254	NM_000062.3(SERPING1):c.1029+312T>C	SERPING1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 983255	NM_000062.3(SERPING1):c.1029+851C>G	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983256	NM_000062.3(SERPING1):c.1029+926G>T	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983257	NM_000062.3(SERPING1):c.1029+1443G>C	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983258	NM_000062.3(SERPING1):c.1029+1497A>G	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983259	NM_000062.3(SERPING1):c.1029+2110T>C	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983260	NM_000062.3(SERPING1):c.1029+2111G>A	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983230	NM_000062.3(SERPING1):c.1030-1975G>C	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983231	NM_000062.3(SERPING1):c.1030-1513del	SERPING1	Deletion (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983232	NM_000062.3(SERPING1):c.1030-1222A>G	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983233	NM_000062.3(SERPING1):c.1030-1198G>T	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983234	NM_000062.3(SERPING1):c.1030-865C>T	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 254785	NM_000062.3(SERPING1):c.1030-20A>G	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1 +2 more	GBenign
Select item 983235	NM_000062.3(SERPING1):c.1250-538T>C	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983236	NM_000062.3(SERPING1):c.1250-282T>C	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1 +1 more	GBenign
Select item 983244	NM_000062.3(SERPING1):c.1250-154C>G	SERPING1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign

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Items: 35