JSRP1[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 60069	GRCh38/hg38 19p13.3(chr19:1727562-2306496)x1	ABHD17A, ADAT3 +108 more	Copy number loss	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 2296998	NM_144616.4(JSRP1):c.991G>C (p.Asp331His)	JSRP1 (D331H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112553	NM_144616.4(JSRP1):c.988C>T (p.Arg330Trp)	JSRP1 (R330W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526068	NM_144616.4(JSRP1):c.961C>G (p.Arg321Gly)	JSRP1 (R321G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287267	NM_144616.4(JSRP1):c.955G>A (p.Gly319Arg)	JSRP1 (G319R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551310	NM_144616.4(JSRP1):c.877C>G (p.Arg293Gly)	JSRP1 (R293G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112550	NM_144616.4(JSRP1):c.869C>G (p.Pro290Arg)	JSRP1 (P290R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112549	NM_144616.4(JSRP1):c.803G>A (p.Arg268Gln)	JSRP1 (R268Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517127	NM_144616.4(JSRP1):c.792G>C (p.Glu264Asp)	JSRP1 (E264D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287268	NM_144616.4(JSRP1):c.782C>A (p.Pro261Gln)	JSRP1 (P261Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396081	NM_144616.4(JSRP1):c.767C>G (p.Pro256Arg)	JSRP1 (P256R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609924	NM_144616.4(JSRP1):c.749C>T (p.Pro250Leu)	JSRP1 (P250L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389648	NM_144616.4(JSRP1):c.665C>G (p.Ala222Gly)	JSRP1 (A222G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360891	NM_144616.4(JSRP1):c.536T>C (p.Phe179Ser)	JSRP1 (F179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238758	NM_144616.4(JSRP1):c.463C>G (p.Gln155Glu)	JSRP1 (Q155E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287265	NM_144616.4(JSRP1):c.400G>A (p.Val134Met)	JSRP1 (V134M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512950	NM_144616.4(JSRP1):c.359G>A (p.Gly120Glu)	JSRP1 (G120E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290166	NM_144616.4(JSRP1):c.335C>T (p.Ala112Val)	JSRP1 (A112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399294	NM_144616.4(JSRP1):c.325C>T (p.Pro109Ser)	JSRP1 (P109S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112545	NM_144616.4(JSRP1):c.284G>T (p.Arg95Leu)	JSRP1 (R95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461217	NM_144616.4(JSRP1):c.256G>A (p.Gly86Arg)	JSRP1 (G86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112544	NM_144616.4(JSRP1):c.241G>A (p.Glu81Lys)	JSRP1 (E81K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287269	NM_144616.4(JSRP1):c.238A>G (p.Lys80Glu)	JSRP1 (K80E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112551	NM_144616.4(JSRP1):c.89C>A (p.Thr30Asn)	JSRP1 (T30N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377776	NM_144616.4(JSRP1):c.85G>A (p.Glu29Lys)	JSRP1 (E29K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112548	NM_144616.4(JSRP1):c.74C>G (p.Ser25Cys)	JSRP1 (S25C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287266	NM_144616.4(JSRP1):c.53G>A (p.Cys18Tyr)	JSRP1 (C18Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112546	NM_144616.4(JSRP1):c.40G>A (p.Gly14Ser)	JSRP1 (G14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062395	GRCh37/hg19 19p13.3(chr19:1648089-2302433)x3	LINGO3, MIR1909 +21 more	Copy number gain	not specified	GUncertain significance
Select item 3062390	GRCh37/hg19 19p13.3(chr19:2123255-2258285)x3	DOT1L, JSRP1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2427064	NC_000019.9:g.(?_1456055)_(2456931_?)dup	C19orf25, CSNK1G2 +35 more	Duplication	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1341199	GRCh37/hg19 19p13.3(chr19:1973753-2380699)x3	AMH, AP3D1 +14 more	Copy number gain	not provided	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816060	GRCh37/hg19 19p13.3(chr19:1075192-2256387)x3	MKNK2, MOB3A +43 more	Copy number gain	not provided	GLikely pathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 635917	NC_000019.9:g.1406030_3597207dup	AP3D1, SPPL2B +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 635915	Single allele	ATCAY, CACTIN +50 more	Deletion	Internal malformations	GUncertain significance
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	NDUFS7, OAZ1 +100 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253917	GRCh37/hg19 19p13.3(chr19:1952590-2698712)x3	GADD45B, BTBD2 +19 more	Copy number gain	See cases	GUncertain significance
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic

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Items: 57