ClinVar for Gene (Select 124535) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3107227	NM_001080439.3(HSF5):c.602C>T (p.Ser201Phe)	HSF5 (S201F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107226	NM_001080439.3(HSF5):c.541G>A (p.Glu181Lys)	HSF5, LOC130061297 (E181K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107225	NM_001080439.3(HSF5):c.1676G>C (p.Arg559Thr)	HSF5 (R241T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107224	NM_001080439.3(HSF5):c.1576C>T (p.Arg526Cys)	HSF5 (R526C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647966	NM_001080439.3(HSF5):c.191GGGCCG[3] (p.Ala67_Glu68insGlyAla)	HSF5, LOC130061298	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2647965	NM_001080439.3(HSF5):c.321G>A (p.Pro107=)	HSF5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621493	NM_001080439.3(HSF5):c.1252A>C (p.Ser418Arg)	HSF5 (S418R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544605	NM_001080439.3(HSF5):c.466C>G (p.Leu156Val)	HSF5, LOC130061297 (L156V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510917	NM_001080439.3(HSF5):c.77G>A (p.Arg26His)	HSF5 (R26H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495437	NM_001080439.3(HSF5):c.316G>A (p.Gly106Arg)	HSF5 (G106R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468945	NM_001080439.3(HSF5):c.667C>T (p.Arg223Trp)	HSF5 (R223W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455813	NM_001080439.3(HSF5):c.1539C>A (p.His513Gln)	HSF5 (H195Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429783	NC_000017.10:g.(?_55806534)_(56540597_?)del	OR4D2, SUPT4H1 +14 more	Deletion	Neurodevelopmental delay +1 more	GPathogenic
Select item 2353717	NM_001080439.3(HSF5):c.562G>A (p.Val188Ile)	HSF5 (V188I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273852	NM_001080439.3(HSF5):c.985A>G (p.Thr329Ala)	HSF5 (T11A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268197	NM_001080439.3(HSF5):c.778A>G (p.Arg260Gly)	HSF5 (R260G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212337	NM_001080439.3(HSF5):c.199G>A (p.Ala67Thr)	HSF5, LOC130061298 (A67T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710927	GRCh37/hg19 17q22(chr17:55043662-56728123)x1	LPO, MKS1 +21 more	Copy number loss	See cases	GPathogenic
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1042799	NC_000017.10:g.(?_56432304)_(56811583_?)dup	C17orf47, HSF5 +5 more	Duplication	Fanconi anemia complementation group O	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic
Select item 253345	GRCh37/hg19 17q22(chr17:55916829-56770618)x1	MKS1, DYNLL2 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 30