LOC130064357[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 1945286	NM_000540.3(RYR1):c.13280_13301del (p.His4427fs)	LOC130064357, RYR1 (H4427fs +1 more)	Deletion (frameshift variant)	RYR1-related disorder	GPathogenic
Select item 2770809	NM_000540.3(RYR1):c.13279_13282del (p.His4427fs)	LOC130064357, RYR1 (H4422fs +1 more)	Deletion (frameshift variant)	RYR1-related disorder	GPathogenic
Select item 1415915	NM_000540.3(RYR1):c.13279C>T (p.His4427Tyr)	LOC130064357, RYR1 (H4422Y +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +5 more	GUncertain significance
Select item 2971115	NM_000540.3(RYR1):c.13281C>T (p.His4427=)	LOC130064357, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 930581	NM_000540.3(RYR1):c.13281C>G (p.His4427Gln)	LOC130064357, RYR1 (H4427Q +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion	GUncertain significance
Select item 1474252	NM_000540.3(RYR1):c.13282G>A (p.Glu4428Lys)	LOC130064357, RYR1 (E4423K +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder	GUncertain significance
Select item 2418725	NM_000540.3(RYR1):c.13292_13296dup (p.Gly4433fs)	LOC130064357, RYR1 (G4428fs +1 more)	Microsatellite (frameshift variant)	RYR1-related disorder	GPathogenic
Select item 1148223	NM_000540.3(RYR1):c.13287C>T (p.Ala4429=)	LOC130064357, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2689898	NM_000540.3(RYR1):c.13288G>C (p.Gly4430Arg)	LOC130064357, RYR1 (G4425R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345584	NM_000540.3(RYR1):c.13288G>T (p.Gly4430Trp)	LOC130064357, RYR1 (G4425W +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 854945	NM_000540.3(RYR1):c.13289G>A (p.Gly4430Glu)	LOC130064357, RYR1 (G4430E +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder	GUncertain significance
Select item 1094320	NM_000540.3(RYR1):c.13290G>A (p.Gly4430=)	LOC130064357, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 663742	NM_000540.3(RYR1):c.13290G>T (p.Gly4430=)	LOC130064357, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 854078	NM_000540.3(RYR1):c.13301_13314dup (p.Ala4439fs)	LOC130064357, RYR1 (A4434fs +1 more)	Duplication (frameshift variant)	RYR1-related disorder	GPathogenic
Select item 2649814	NM_000540.3(RYR1):c.13293G>A (p.Pro4431=)	LOC130064357, RYR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 571378	NM_000540.3(RYR1):c.13295del (p.Gly4432fs)	LOC130064357, RYR1 (G4432fs +1 more)	Deletion (frameshift variant)	RYR1-related disorder	GPathogenic
Select item 3157329	NM_000540.3(RYR1):c.13297G>A (p.Gly4433Ser)	LOC130064357, RYR1 (G4433S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200581	NM_000540.3(RYR1):c.13299T>C (p.Gly4433=)	LOC130064357, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2891841	NM_000540.3(RYR1):c.13302C>T (p.Ala4434=)	LOC130064357, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2152408	NM_000540.3(RYR1):c.13303G>A (p.Asp4435Asn)	LOC130064357, RYR1 (D4430N +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder	GUncertain significance
Select item 3005602	NM_000540.3(RYR1):c.13308_13312del (p.Ala4437fs)	LOC130064357, RYR1 (A4432fs +1 more)	Deletion (frameshift variant)	RYR1-related disorder	GPathogenic
Select item 1597043	NM_000540.3(RYR1):c.13305C>T (p.Asp4435=)	LOC130064357, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 1377111	NM_000540.3(RYR1):c.13307_13312dup (p.Gly4436_Ala4437dup)	LOC130064357, RYR1	Duplication (inframe_insertion)	RYR1-related disorder	GUncertain significance
Select item 1346013	NM_000540.3(RYR1):c.13311G>T (p.Ala4437=)	LOC130064357, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 590429	NM_000540.3(RYR1):c.13313T>G (p.Val4438Gly)	LOC130064357, RYR1 (V4438G +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 2731372	NM_000540.3(RYR1):c.13314G>T (p.Val4438=)	LOC130064357, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2739673	NM_000540.3(RYR1):c.13317C>G (p.Ala4439=)	LOC130064357, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 93251	NM_000540.3(RYR1):c.13317C>T (p.Ala4439=)	LOC130064357, RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GBenign/Likely benign
Select item 967750	NM_000540.3(RYR1):c.13321_13331del (p.Thr4441fs)	LOC130064357, RYR1 (T4436fs +1 more)	Deletion (frameshift variant)	RYR1-related disorder	GPathogenic
Select item 1116863	NM_000540.3(RYR1):c.13323C>T (p.Thr4441=)	LOC130064357, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 590430	NM_000540.3(RYR1):c.13324G>T (p.Asp4442Tyr)	LOC130064357, RYR1 (D4442Y +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 478183	NM_000540.3(RYR1):c.13331_13351dup (p.Gly4444_Gly4450dup)	LOC130064357, RYR1	Duplication (inframe_insertion)	not provided +7 more	GUncertain significance
Select item 1547815	NM_000540.3(RYR1):c.13329G>A (p.Gly4443=)	LOC130064357, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 796637	NM_000540.3(RYR1):c.13329G>C (p.Gly4443=)	LOC130064357, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 1518786	NM_000540.3(RYR1):c.13330G>A (p.Gly4444Ser)	LOC130064357, RYR1 (G4439S +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder	GUncertain significance
Select item 2435516	NM_000540.3(RYR1):c.13331G>T (p.Gly4444Val)	LOC130064357, RYR1 (G4439V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1012452	NM_000540.3(RYR1):c.13332C>T (p.Gly4444=)	LOC130064357, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +1 more	GBenign/Likely benign
Select item 544434	NM_000540.3(RYR1):c.13335del (p.Phe4446fs)	LOC130064357, RYR1 (F4441fs +1 more)	Deletion (frameshift variant)	RYR1-related disorder	GPathogenic
Select item 861303	NM_000540.3(RYR1):c.13333C>G (p.Pro4445Ala)	LOC130064357, RYR1 (P4440A +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder	GUncertain significance
Select item 1030856	NM_000540.3(RYR1):c.13334C>G (p.Pro4445Arg)	LOC130064357, RYR1 (P4440R +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance
Select item 1979821	NM_000540.3(RYR1):c.13336T>A (p.Phe4446Ile)	LOC130064357, RYR1 (F4441I +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 1063532	NM_000540.3(RYR1):c.13337T>A (p.Phe4446Tyr)	LOC130064357, RYR1 (F4441Y +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder	GUncertain significance
Select item 1719814	NM_000540.3(RYR1):c.13339C>G (p.Arg4447Gly)	LOC130064357, RYR1 (R4442G +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder	GUncertain significance
Select item 2050734	NM_000540.3(RYR1):c.13340G>T (p.Arg4447Leu)	LOC130064357, RYR1 (R4442L +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 256426	NM_000540.3(RYR1):c.13341G>A (p.Arg4447=)	LOC130064357, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +1 more	GLikely benign
Select item 1016300	NM_000540.3(RYR1):c.13342C>G (p.Pro4448Ala)	LOC130064357, RYR1 (P4443A +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder	GUncertain significance
Select item 329125	NM_000540.3(RYR1):c.13342C>T (p.Pro4448Ser)	LOC130064357, RYR1 (P4448S +1 more)	Single nucleotide variant (missense variant)	Central core myopathy +6 more	GUncertain significance
Select item 2143652	NM_000540.3(RYR1):c.13343C>G (p.Pro4448Arg)	LOC130064357, RYR1 (P4448R +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder	GUncertain significance
Select item 2874770	NM_000540.3(RYR1):c.13344C>T (p.Pro4448=)	LOC130064357, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2891675	NM_000540.3(RYR1):c.13345G>A (p.Glu4449Lys)	LOC130064357, RYR1 (E4444K +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance

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Items: 52