TSTD1[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 639872	NC_000001.10:g.(?_160786670)_(161332233_?)dup	ADAMTS4, APOA2 +63 more	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 57815	GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3	ADAMTS4, APOA2 +58 more	Copy number gain	See cases	GUncertain significance
Select item 3184000	NM_001113207.2(TSTD1):c.337A>G (p.Lys113Glu)	TSTD1 (K113E +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2357950	NM_001113207.2(TSTD1):c.302G>A (p.Arg101His)	TSTD1 (R101H +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3183998	NM_001113207.2(TSTD1):c.301C>T (p.Arg101Cys)	TSTD1 (R123C +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3183997	NM_001113207.2(TSTD1):c.278G>T (p.Arg93Leu)	TSTD1 (R115L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329725	NM_001113207.2(TSTD1):c.265A>C (p.Thr89Pro)	TSTD1 (T89P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270427	NM_001113207.2(TSTD1):c.250C>T (p.Arg84Trp)	TSTD1 (R106W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183996	NM_001113207.2(TSTD1):c.198G>C (p.Glu66Asp)	TSTD1 (E25D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553463	NM_001113207.2(TSTD1):c.152C>A (p.Ala51Asp)	TSTD1 (A73D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220422	NM_001113207.2(TSTD1):c.131C>T (p.Pro44Leu)	TSTD1 (P44L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529168	NM_001113207.2(TSTD1):c.125A>G (p.Asn42Ser)	TSTD1 (N42S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329724	NM_001113207.2(TSTD1):c.113C>T (p.Pro38Leu)	TSTD1 (P38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216024	NM_001113207.2(TSTD1):c.50C>T (p.Ala17Val)	TSTD1 (A17V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480688	NM_001113207.2(TSTD1):c.32A>G (p.Glu11Gly)	TSTD1 (E33G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809367	GRCh37/hg19 1q23.3(chr1:160778879-161190622)x3	ADAMTS4, ARHGAP30 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1341040	GRCh37/hg19 1q23.3(chr1:160859558-161409185)x3	ADAMTS4, APOA2 +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 830661	NC_000001.11:g.(?_160816880)_(161362518_?)dup	ADAMTS4, APOA2 +24 more	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 814133	GRCh37/hg19 1q23.3(chr1:160977795-161189147)x3	KLHDC9, PFDN2 +14 more	Copy number gain	not provided	GUncertain significance
Select item 688334	GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3	ADAMTS4, APOA2 +42 more	Copy number gain	not provided	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 685941	GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3	ATP1A2, ATP1A4 +31 more	Copy number gain	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 32