"HSF4-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2636293	NM_001374675.1(HSF4):c.7G>T (p.Glu3Ter)	HSF4, LOC125177334 (E3*)	Single nucleotide variant (nonsense)	HSF4-related condition	GLikely pathogenic
Select item 884592	NM_001374675.1(HSF4):c.347G>A (p.Arg116His)	HSF4 (R116H)	Single nucleotide variant (missense variant)	Cataract 5 multiple types +1 more	GBenign/Likely benign
Select item 2636718	NM_001374675.1(HSF4):c.406C>G (p.Leu136Val)	HSF4 (L136V)	Single nucleotide variant (missense variant)	HSF4-related condition	GUncertain significance
Select item 522680	NM_001374675.1(HSF4):c.426_443dup (p.Ala145_Gln150dup)	HSF4	Duplication (inframe_insertion)	HSF4-related condition +1 more	GUncertain significance
Select item 2636308	NM_001374675.1(HSF4):c.562-1G>C	HSF4	Single nucleotide variant (splice acceptor variant)	HSF4-related condition	GUncertain significance
Select item 320185	NM_001374675.1(HSF4):c.636G>T (p.Met212Ile)	HSF4 (M212I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 885525	NM_001374675.1(HSF4):c.680C>A (p.Thr227Asn)	HSF4 (T227N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2634990	NM_001374675.1(HSF4):c.904del (p.Asp302fs)	HSF4 (D302fs)	Deletion (frameshift variant +1 more)	HSF4-related condition	GLikely pathogenic
Select item 3041882	NM_001374675.1(HSF4):c.915C>T (p.Ala305=)	HSF4	Single nucleotide variant (synonymous variant +1 more)	HSF4-related condition	GBenign
Select item 3036843	NM_001374675.1(HSF4):c.1104C>T (p.Ser368=)	HSF4	Single nucleotide variant (synonymous variant)	HSF4-related condition	GLikely benign
Select item 3033052	NM_001374675.1(HSF4):c.1132C>T (p.Pro378Ser)	HSF4 (P348S +1 more)	Single nucleotide variant (missense variant)	HSF4-related condition	GLikely benign
Select item 3032590	NM_001374675.1(HSF4):c.1213C>A (p.Arg405=)	HSF4	Single nucleotide variant (synonymous variant)	HSF4-related condition	GLikely benign
Select item 702238	NM_001374675.1(HSF4):c.1414A>G (p.Ile472Val)	HSF4 (I472V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2048803	NM_001374675.1(HSF4):c.1475C>G (p.Pro492Arg)	HSF4 (P492R +1 more)	Single nucleotide variant (missense variant)	HSF4-related condition +1 more	GUncertain significance
Select item 320191	NM_001374675.1(HSF4):c.1476C>A (p.Pro492=)	HSF4	Single nucleotide variant (synonymous variant)	Cataract 5 multiple types +1 more	GBenign/Likely benign
Select item 886552	NM_001374675.1(HSF4):c.*8C>T	HSF4	Single nucleotide variant (3 prime UTR variant)	Cataract 5 multiple types +1 more	GBenign/Likely benign