Related gene-specific medical variations for Gene (Select 3299) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360708	NM_001374675.1(HSF4):c.158G>A (p.Arg53His)	HSF4 (R53H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3047298	NM_018378.3(FBXL8):c.*191C>G	FBXL8, HSF4	Single nucleotide variant (3 prime UTR variant +1 more)	FBXL8-related disorder	GLikely benign
Select item 2881886	NM_001374675.1(HSF4):c.40C>A (p.Pro14Thr)	HSF4, LOC125177334 (P14T)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 2728063	NM_001374675.1(HSF4):c.33G>T (p.Glu11Asp)	HSF4, LOC125177334 (E11D)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 2636293	NM_001374675.1(HSF4):c.7G>T (p.Glu3Ter)	HSF4, LOC125177334 (E3*)	Single nucleotide variant (nonsense)	HSF4-related disorder	GLikely pathogenic
Select item 2285233	NM_001374675.1(HSF4):c.1325G>A (p.Gly442Glu)	HSF4, LOC130059183 (G442E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 930224	NM_001374675.1(HSF4):c.1222A>G (p.Thr408Ala)	HSF4 (T408A +1 more)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 887735	NM_001538.4(HSF4):c.-125C>T	HSF4, LOC125177334	Single nucleotide variant (5 prime UTR variant)	Cataract 5 multiple types	GBenign
Select item 886484	NM_001538.4(HSF4):c.-198C>T	HSF4, LOC125177334	Single nucleotide variant (5 prime UTR variant)	Cataract 5 multiple types	GUncertain significance
Select item 886483	NM_001538.4(HSF4):c.-244A>C	HSF4, LOC125177334	Single nucleotide variant (5 prime UTR variant)	Cataract 5 multiple types	GUncertain significance
Select item 886482	NM_001538.4(HSF4):c.-419C>T	HSF4, FBXL8	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract 5 multiple types	GLikely benign
Select item 631757	NM_001374675.1(HSF4):c.1325-1G>T	HSF4, LOC130059183	Single nucleotide variant (splice acceptor variant)	Cataract 5 multiple types	GUncertain significance
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 320177	NM_001374675.1(HSF4):c.32A>G (p.Glu11Gly)	HSF4, LOC125177334 (E11G)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 320176	NM_001374675.1(HSF4):c.-23C>T	LOC125177334, HSF4	Single nucleotide variant (5 prime UTR variant)	Cataract 5 multiple types	GBenign
Select item 320175	NM_001538.4(HSF4):c.-186C>T	HSF4, LOC125177334	Single nucleotide variant (5 prime UTR variant)	Cataract 5 multiple types	GUncertain significance
Select item 320174	NM_001538.4(HSF4):c.-191C>G	HSF4, LOC125177334	Single nucleotide variant (5 prime UTR variant)	Cataract 5 multiple types	GUncertain significance
Select item 320173	NM_001538.4(HSF4):c.-211A>G	HSF4, LOC125177334	Single nucleotide variant (5 prime UTR variant)	Cataract 5 multiple types	GUncertain significance
Select item 320172	NM_001538.4(HSF4):c.-223C>T	HSF4, LOC125177334	Single nucleotide variant (5 prime UTR variant)	Cataract 5 multiple types +1 more	GBenign
Select item 320169	NM_001538.4(HSF4):c.-448A>G	FBXL8, HSF4	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract 5 multiple types	GUncertain significance
Select item 320168	NM_001538.4(HSF4):c.-565G>A	FBXL8, HSF4 (E364K)	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract 5 multiple types	GBenign

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Links from Gene

Items: 21