GSAP[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	APTR, CCDC146 +126 more	Deletion	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 60279	GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1	APTR, CCDC146 +109 more	Copy number loss	See cases	GPathogenic
Select item 148376	GRCh38/hg38 7q11.23-21.11(chr7:76440557-78180243)x3	APTR, CCDC146 +45 more	Copy number gain	See cases	GUncertain significance
Select item 2596973	NM_017439.4(GSAP):c.2456T>C (p.Ile819Thr)	GSAP (I819T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2559986	NM_017439.4(GSAP):c.2453A>G (p.Asp818Gly)	GSAP (D800G +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2386727	NM_017439.4(GSAP):c.2407A>G (p.Ser803Gly)	GSAP (S785G +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2213241	NM_017439.4(GSAP):c.2357A>G (p.Gln786Arg)	GSAP (Q571R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454583	NM_017439.4(GSAP):c.2350C>G (p.Leu784Val)	GSAP (L537V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709129	NM_017439.4(GSAP):c.2266C>A (p.Pro756Thr)	GSAP (P738T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2562145	NM_017439.4(GSAP):c.2195T>C (p.Ile732Thr)	GSAP (I485T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2283063	NM_017439.4(GSAP):c.2192T>C (p.Val731Ala)	GSAP (V516A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482182	NM_017439.4(GSAP):c.2167G>A (p.Val723Met)	GSAP (V704M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217667	NM_017439.4(GSAP):c.2153G>A (p.Cys718Tyr)	GSAP (C699Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3102779	NM_017439.4(GSAP):c.2124G>T (p.Gln708His)	GSAP (Q461H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2270805	NM_017439.4(GSAP):c.2047A>G (p.Ile683Val)	GSAP (I683V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233715	NM_017439.4(GSAP):c.1957T>C (p.Trp653Arg)	GSAP (W438R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512787	NM_017439.4(GSAP):c.1780C>T (p.Pro594Ser)	GSAP (P575S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591737	NM_017439.4(GSAP):c.1705G>A (p.Val569Met)	GSAP (V354M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102778	NM_017439.4(GSAP):c.1632C>G (p.Asn544Lys)	GSAP (N526K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218603	NM_017439.4(GSAP):c.1610A>G (p.Lys537Arg)	GSAP (K518R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324311	NM_017439.4(GSAP):c.1469C>T (p.Ser490Phe)	GSAP (S471F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454741	NM_017439.4(GSAP):c.1313A>G (p.Gln438Arg)	GSAP (Q223R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3102777	NM_017439.4(GSAP):c.1309G>C (p.Gly437Arg)	GSAP (G437R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601215	NM_017439.4(GSAP):c.1298C>T (p.Ala433Val)	GSAP (A433V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2289980	NM_017439.4(GSAP):c.1297G>A (p.Ala433Thr)	GSAP (A433T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594507	NM_017439.4(GSAP):c.1286C>T (p.Ala429Val)	GSAP (A214V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2590427	NM_017439.4(GSAP):c.1232C>T (p.Ser411Leu)	GSAP (S411L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607026	NM_017439.4(GSAP):c.1166C>T (p.Ser389Leu)	GSAP (S389L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305362	NM_017439.4(GSAP):c.1154G>T (p.Cys385Phe)	GSAP (C170F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287614	NM_017439.4(GSAP):c.1102C>T (p.His368Tyr)	GSAP (H153Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544392	NM_017439.4(GSAP):c.952C>T (p.His318Tyr)	GSAP (H299Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2331093	NM_017439.4(GSAP):c.946A>G (p.Lys316Glu)	GSAP (K101E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480079	NM_017439.4(GSAP):c.874A>C (p.Ser292Arg)	GSAP (S292R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102786	NM_017439.4(GSAP):c.836A>G (p.Lys279Arg)	GSAP (K279R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307851	NM_017439.4(GSAP):c.835A>G (p.Lys279Glu)	GSAP (K279E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102785	NM_017439.4(GSAP):c.791T>A (p.Val264Asp)	GSAP (V245D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102784	NM_017439.4(GSAP):c.790G>C (p.Val264Leu)	GSAP (V49L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102783	NM_017439.4(GSAP):c.689G>T (p.Arg230Met)	GSAP (R15M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102782	NM_017439.4(GSAP):c.628G>A (p.Val210Ile)	GSAP (V191I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2368641	NM_017439.4(GSAP):c.628G>C (p.Val210Leu)	GSAP (V191L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2618683	NM_017439.4(GSAP):c.611G>A (p.Arg204Lys)	GSAP (R185K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 402912	NM_017439.4(GSAP):c.577-13_577-11del	GSAP	Deletion (intron variant)	not specified	GBenign
Select item 2487649	NM_017439.4(GSAP):c.554C>T (p.Ala185Val)	GSAP (A166V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102781	NM_017439.4(GSAP):c.547C>G (p.His183Asp)	GSAP (H183D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2310970	NM_017439.4(GSAP):c.477A>C (p.Glu159Asp)	GSAP (E159D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2271645	NM_017439.4(GSAP):c.427A>C (p.Lys143Gln)	GSAP (K143Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2482418	NM_017439.4(GSAP):c.403C>T (p.Pro135Ser)	GSAP (P116S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2261859	NM_017439.4(GSAP):c.391G>A (p.Val131Ile)	GSAP (V131I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2241322	NM_017439.4(GSAP):c.309G>C (p.Leu103Phe)	GSAP (L103F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2218936	NM_017439.4(GSAP):c.300A>T (p.Glu100Asp)	GSAP (E81D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102780	NM_017439.4(GSAP):c.263A>C (p.Lys88Thr)	GSAP (K69T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2537367	NM_017439.4(GSAP):c.79G>C (p.Glu27Gln)	GSAP, LOC101927243 (E27Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2619179	NM_017439.4(GSAP):c.34G>A (p.Gly12Arg)	GSAP, LOC101927243 (G12R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1341187	GRCh37/hg19 7q11.23(chr7:76896700-77169384)x3	CCDC146, GSAP +1 more	Copy number gain	not provided	GUncertain significance
Select item 814995	GRCh37/hg19 7q11.23(chr7:76784372-77199666)x3	FGL2, PTPN12 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395664	GRCh37/hg19 7q11.23(chr7:76946280-77011847)x3	GSAP	Copy number gain	See cases	GLikely benign
Select item 394845	GRCh37/hg19 7q11.23(chr7:76882556-76982281)x3	CCDC146, GSAP	Copy number gain	See cases	GLikely benign
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 71