"GeneDx"[submitter] AND "PFN1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 1307442	NM_005022.4(PFN1):c.401A>C (p.His134Pro)	PFN1 (H134P)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 646360	NM_005022.4(PFN1):c.350_351delinsGT (p.Glu117Gly)	PFN1 (E117G)	Indel (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 259607	NM_005022.4(PFN1):c.334C>T (p.Leu112=)	PFN1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 1224167	NM_005022.4(PFN1):c.326-92G>A	PFN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1197808	NM_005022.4(PFN1):c.326-229C>T	PFN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1204909	NM_005022.4(PFN1):c.326-254A>G	PFN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1265280	NM_005022.4(PFN1):c.325+296T>A	PFN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1179434	NM_005022.4(PFN1):c.325+288T>C	PFN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1295413	NM_005022.4(PFN1):c.325+149C>T	PFN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2446335	NM_005022.4(PFN1):c.185A>G (p.Asn62Ser)	PFN1 (N62S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1211674	NM_005022.4(PFN1):c.133-125A>G	PFN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295414	NM_005022.4(PFN1):c.133-197C>G	PFN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261929	NM_005022.4(PFN1):c.132+133G>C	PFN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199737	NM_005022.4(PFN1):c.-58C>G	LOC130060054, PFN1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1234360	NM_005022.4(PFN1):c.-78C>T	LOC130060054, PFN1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1215785	NM_005022.4(PFN1):c.-86G>A	LOC130060054, PFN1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1179916	NM_005022.4(PFN1):c.-132C>T	LOC130060054, PFN1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1295407	NC_000017.11:g.4948573dup	LOC130060054, PFN1	Duplication	not provided	GBenign
Select item 1228307	NC_000017.11:g.4948573del	LOC130060054, PFN1	Deletion	not provided	GBenign
Select item 1281278	NC_000017.11:g.4949010G>A	ENO3, LOC130060055 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1265595	NC_000017.11:g.4949168C>T	ENO3, PFN1	Single nucleotide variant	not provided	GBenign
Select item 1200806	NC_000017.11:g.4949328G>T	ENO3, LOC130060056 +1 more	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign

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Items: 24