GPS1[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 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
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 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 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 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 60175	GRCh38/hg38 17q25.3(chr17:81885863-82358856)x3	LOC130062008, LOC130062009 +95 more	Copy number gain	See cases	GUncertain significance
Select item 2499662	GRCh38/hg38 17q25.3(chr17:82004063-83087346)	ASPSCR1, B3GNTL1 +130 more	Copy number loss	Anomalous pulmonary venous return	GUncertain significance
Select item 2342657	NM_002917.2(RFNG):c.215G>C (p.Gly72Ala)	GPS1, RFNG (G72A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345671	NM_002917.2(RFNG):c.202C>T (p.Arg68Trp)	GPS1, RFNG (R68W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716492	NM_002917.2(RFNG):c.201C>T (p.Thr67=)	GPS1, RFNG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3313871	NM_002917.2(RFNG):c.178G>A (p.Val60Ile)	GPS1, RFNG (V60I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517688	NM_002917.2(RFNG):c.167G>A (p.Arg56Gln)	GPS1, RFNG (R56Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313869	NM_002917.2(RFNG):c.166C>T (p.Arg56Trp)	GPS1, RFNG (R56W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313870	NM_002917.2(RFNG):c.155C>T (p.Ala52Val)	GPS1, RFNG (A52V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2648483	NM_002917.2(RFNG):c.6C>T (p.Ser2=)	GPS1, RFNG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3282531	NM_001321092.3(GPS1):c.33+371C>T	GPS1 (A38V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619875	NM_001321092.3(GPS1):c.33+380C>T	GPS1 (S41L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282533	NM_001321092.3(GPS1):c.33+403C>T	GPS1 (P21S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537993	NM_001321092.3(GPS1):c.33+469C>G	GPS1 (L43V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2614996	NM_001321092.3(GPS1):c.149G>A (p.Ser50Asn)	GPS1 (S34N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210948	NM_001321092.3(GPS1):c.157G>A (p.Gly53Ser)	GPS1 (G121S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648484	NM_001321092.3(GPS1):c.177G>A (p.Arg59=)	GPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3102045	NM_001321092.3(GPS1):c.206C>T (p.Thr69Met)	GPS1 (T137M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102046	NM_001321092.3(GPS1):c.253A>G (p.Thr85Ala)	GPS1 (T69A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371450	NM_001321092.3(GPS1):c.269T>C (p.Met90Thr)	GPS1 (M90T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621847	NM_001321092.3(GPS1):c.292C>G (p.Leu98Val)	GPS1 (L138V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611218	NM_001321092.3(GPS1):c.301G>A (p.Ala101Thr)	GPS1 (A93T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532647	NM_001321092.3(GPS1):c.345C>A (p.Ser115Arg)	GPS1 (S99R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1244084	NM_001321092.3(GPS1):c.372G>A (p.Thr124=)	GPS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709299	NM_001321092.3(GPS1):c.433C>T (p.Leu145=)	GPS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2402807	NM_001321092.3(GPS1):c.547C>T (p.Arg183Trp)	GPS1 (R175W +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1281320	NM_001321092.3(GPS1):c.610-5G>A	GPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2515889	NM_001321092.3(GPS1):c.616G>A (p.Val206Ile)	GPS1 (V210I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282532	NM_001321092.3(GPS1):c.620A>G (p.Tyr207Cys)	GPS1 (Y275C +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102047	NM_001321092.3(GPS1):c.661G>A (p.Ala221Thr)	GPS1 (A213T +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102043	NM_001321092.3(GPS1):c.911G>A (p.Arg304His)	GPS1 (R288H +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 596789	NM_001321092.3(GPS1):c.1088C>A (p.Thr363Asn)	GPS1 (T403N +16 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3282534	NM_001321092.3(GPS1):c.1156G>T (p.Ala386Ser)	GPS1 (A359S +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102044	NM_001321092.3(GPS1):c.1229G>A (p.Ser410Asn)	GPS1 (S375N +19 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349080	NM_001321092.3(GPS1):c.1234C>T (p.Arg412Cys)	GPS1 (R396C +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378603	NM_001321092.3(GPS1):c.1460T>C (p.Met487Thr)	GPS1 (M452T +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	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 2671602	Single allele	ASPSCR1, B3GNTL1 +28 more	Duplication	not provided	GUncertain significance
Select item 2445210	Single allele	FOXK2, GCGR +51 more	Deletion	See cases	GPathogenic
Select item 2425655	NC_000017.10:g.(?_79891090)_(80333370_?)del	ASPSCR1, CCDC57 +17 more	Deletion	not provided	GPathogenic
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526589	GRCh37/hg19 17q25.3(chr17:79976464-81041938)	B3GNTL1, CCDC57 +27 more	Copy number loss	not specified	GUncertain significance
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 687520	GRCh37/hg19 17q25.3(chr17:79663313-80197463)x3	ALYREF, ANAPC11 +26 more	Copy number gain	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	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +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

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Items: 61