ClinVar for Gene (Select 100506779) - ClinVar - NCBI

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Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3183871	NM_004758.4(TSPOAP1):c.575G>A (p.Ser192Asn)	TSPOAP1, TSPOAP1-AS1 (S192N)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2574616	NM_004758.4(TSPOAP1):c.538del (p.Ala180fs)	TSPOAP1, TSPOAP1-AS1 (A180fs)	Deletion (frameshift variant)	Dystonia 22, juvenile-onset	GPathogenic
Select item 2540103	NM_003168.3(SUPT4H1):c.26A>G (p.Asp9Gly)	SUPT4H1, TSPOAP1-AS1 (D9G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2532406	NM_003168.3(SUPT4H1):c.243G>T (p.Lys81Asn)	SUPT4H1, TSPOAP1-AS1 (K81N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527913	NM_003168.3(SUPT4H1):c.308G>T (p.Ser103Ile)	SUPT4H1, TSPOAP1-AS1 (S103I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2500157	NM_004758.4(TSPOAP1):c.25C>T (p.Arg9Trp)	LOC130061278, TSPOAP1 +1 more (R9W)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2359187	NM_004758.4(TSPOAP1):c.348G>A (p.Met116Ile)	TSPOAP1, TSPOAP1-AS1 (M116I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225309	NM_003168.3(SUPT4H1):c.257C>T (p.Ala86Val)	SUPT4H1, TSPOAP1-AS1 (A86V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 714860	NM_004758.4(TSPOAP1):c.644G>T (p.Arg215Leu)	TSPOAP1, TSPOAP1-AS1 (R215L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 402438	NM_004758.4(TSPOAP1):c.236G>A (p.Gly79Glu)	LOC130061277, TSPOAP1 +1 more (G79E)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
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	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic