ClinVar for Gene (Select 83882) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234136	NM_001290212.2(TSPAN10):c.766G>C (p.Asp256His)	TSPAN10 (D256H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3183799	NM_001290212.2(TSPAN10):c.916G>C (p.Gly306Arg)	TSPAN10 (G306R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183797	NM_001290212.2(TSPAN10):c.46G>A (p.Gly16Ser)	TSPAN10 (G16S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183796	NM_001290212.2(TSPAN10):c.218G>T (p.Ser73Ile)	TSPAN10 (S73I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183795	NM_001290212.2(TSPAN10):c.214G>C (p.Gly72Arg)	TSPAN10 (G72R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2600659	NM_001290212.2(TSPAN10):c.301G>A (p.Gly101Ser)	TSPAN10 (G101S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530195	NM_001290212.2(TSPAN10):c.545T>C (p.Leu182Pro)	TSPAN10 (L182P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508116	NM_001290212.2(TSPAN10):c.599G>A (p.Arg200His)	TSPAN10 (R200H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494597	NM_001290212.2(TSPAN10):c.637T>C (p.Cys213Arg)	TSPAN10 (C213R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463402	NM_001290212.2(TSPAN10):c.940C>T (p.Arg314Trp)	TSPAN10 (R314W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445210	Single allele	TBCD, TEX19 +51 more	Deletion	See cases	GPathogenic
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	MAFG, MCRIP1 +52 more	Duplication	not provided	GUncertain significance
Select item 2367968	NM_001290212.2(TSPAN10):c.598C>T (p.Arg200Cys)	TSPAN10 (R200C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2350336	NM_001290212.2(TSPAN10):c.625G>A (p.Gly209Arg)	TSPAN10 (G209R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334631	NM_001290212.2(TSPAN10):c.484G>C (p.Val162Leu)	TSPAN10 (V162L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288294	NM_001290212.2(TSPAN10):c.41C>T (p.Thr14Ile)	TSPAN10 (T14I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253058	NM_001290212.2(TSPAN10):c.853C>G (p.Arg285Gly)	TSPAN10 (R285G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252022	NM_001290212.2(TSPAN10):c.283C>G (p.Leu95Val)	TSPAN10 (L95V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225519	NM_001290212.2(TSPAN10):c.476C>G (p.Ala159Gly)	TSPAN10 (A159G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224958	NM_001290212.2(TSPAN10):c.610G>A (p.Asp204Asn)	TSPAN10 (D204N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208170	NM_001290212.2(TSPAN10):c.625G>C (p.Gly209Arg)	TSPAN10 (G209R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205213	NM_001290212.2(TSPAN10):c.310G>A (p.Val104Ile)	TSPAN10 (V104I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	SLC26A11, SLC38A10 +146 more	Copy number gain	not provided	GPathogenic
Select item 1251449	NM_001290212.2(TSPAN10):c.416A>G (p.Tyr139Cys)	TSPAN10 (Y139C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 687541	GRCh37/hg19 17q25.3(chr17:79496613-79693150)x3	ARL16, CCDC137 +9 more	Copy number gain	not provided	GUncertain significance
Select item 686094	GRCh37/hg19 17q25.3(chr17:79531886-79685043)x1	ARL16, CCDC137 +7 more	Copy number loss	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
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 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 43