C0751951[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 130021	NM_000310.4(PPT1):c.363-4G>A	PPT1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 979154	NM_032279.4(ATP13A4):c.1938A>T (p.Glu646Asp)	ATP13A4 (E646D)	Single nucleotide variant (missense variant)	Central core myopathy +1 more	GBenign
Select item 349887	NM_058172.6(ANTXR2):c.225-4G>A	ANTXR2	Single nucleotide variant (intron variant)	Hyaline fibromatosis syndrome +2 more	GBenign
Select item 95924	NM_018941.4(CLN8):c.685C>G (p.Pro229Ala)	CLN8	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 8 +5 more	GBenign
Select item 97439	NM_000243.3(MEFV):c.1261-28A>G	MEFV	Single nucleotide variant (intron variant)	Central core myopathy +4 more	GConflicting classifications of pathogenicity
Select item 575635	NM_000540.3(RYR1):c.424+4C>A	RYR1	Single nucleotide variant (intron variant)	Central core myopathy +6 more	GUncertain significance
Select item 813941	NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)	RYR1 (R682W)	Single nucleotide variant (missense variant)	RYR1-related condition +7 more	GConflicting classifications of pathogenicity
Select item 635020	NM_000540.3(RYR1):c.3291C>T (p.Gly1097=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 201148	NM_000540.3(RYR1):c.3301G>A (p.Val1101Met)	RYR1 (V1101M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 590515	NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile)	RYR1 (V1148I)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +8 more	GUncertain significance
Select item 590519	NM_000540.3(RYR1):c.3556G>A (p.Gly1186Ser)	RYR1 (G1186S)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +7 more	GUncertain significance
Select item 544377	NM_000540.3(RYR1):c.4766A>C (p.Gln1589Pro)	RYR1 (Q1589P)	Single nucleotide variant (missense variant)	RYR1-related myopathy +7 more	GUncertain significance
Select item 133201	NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln)	RYR1 (R2452Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 590611	NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs)	LOC126862902, RYR1 (I2781fs)	Deletion (frameshift variant)	RYR1-Related Disorders +6 more	GConflicting classifications of pathogenicity
Select item 159864	NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)	RYR1 (C3193W)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +5 more	GConflicting classifications of pathogenicity
Select item 132994	NM_000540.3(RYR1):c.10348-6C>G	RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GConflicting classifications of pathogenicity
Select item 478159	NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp)	RYR1 (R3772W +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 65984	NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)	RYR1 (R4558Q +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 986380	NM_000540.3(RYR1):c.14647-3C>G	RYR1	Single nucleotide variant (intron variant)	Central core myopathy	GUncertain significance
Select item 590479	NM_000540.3(RYR1):c.15016G>A (p.Gly5006Ser)	RYR1 (G5006S +1 more)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +2 more	GPathogenic/Likely pathogenic
Select item 99604	NM_000554.6(CRX):c.365G>A (p.Gly122Asp)	CRX (G122D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +6 more	GBenign/Likely benign

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Items: 21