"GeneDx"[submitter] AND "HSF4"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 320171	NM_001538.4(HSF4):c.-250C>T	HSF4	Single nucleotide variant (5 prime UTR variant)	Cataract 5 multiple types +1 more	GLikely benign
Select item 459610	NM_001374675.1(HSF4):c.8A>G (p.Glu3Gly)	HSF4, LOC125177334 (E3G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 258163	NM_001374675.1(HSF4):c.123+9C>T	HSF4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1271790	NM_001374675.1(HSF4):c.124-66C>G	HSF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3340602	NM_001374675.1(HSF4):c.187T>C (p.Phe63Leu)	HSF4 (F63L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2259686	NM_001374675.1(HSF4):c.214G>A (p.Val72Met)	HSF4 (V72M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 522680	NM_001374675.1(HSF4):c.426_443dup (p.Ala145_Gln150dup)	HSF4	Duplication (inframe_insertion)	HSF4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1305826	NM_001374675.1(HSF4):c.558C>G (p.Gly186=)	HSF4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 320182	NM_001374675.1(HSF4):c.561+4T>G	HSF4	Single nucleotide variant (intron variant)	Cataract 5 multiple types +1 more	GBenign/Likely benign
Select item 1707390	NM_001374675.1(HSF4):c.627-71G>A	HSF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 320185	NM_001374675.1(HSF4):c.636G>T (p.Met212Ile)	HSF4 (M212I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1214672	NM_001374675.1(HSF4):c.730-117G>A	HSF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1704036	NM_001374675.1(HSF4):c.851G>A (p.Arg284Lys)	HSF4 (G289R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1204696	NM_001374675.1(HSF4):c.1082+296G>A	HSF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1697123	NM_001374675.1(HSF4):c.1254+1G>T	HSF4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1211410	NM_001374675.1(HSF4):c.1325-96T>A	HSF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1166869	NM_001374675.1(HSF4):c.1341C>G (p.Leu447=)	HSF4	Single nucleotide variant (synonymous variant)	Cataract 5 multiple types +1 more	GBenign/Likely benign
Select item 320193	NM_001374675.1(HSF4):c.*89G>T	HSF4	Single nucleotide variant (3 prime UTR variant)	Cataract 5 multiple types +1 more	GBenign/Likely benign
Select item 1236484	NC_000016.10:g.67169944dup	HSF4	Duplication	not provided	GBenign
Select item 3360708	NM_001374675.1(HSF4):c.158G>A (p.Arg53His)	HSF4 (R53H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 23