C0546264[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 373075	NM_020451.3(SELENON):c.-11_81del (p.Met1fs)	SELENON (M1fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 212148	NM_020451.3(SELENON):c.415G>A (p.Ala139Thr)	SELENON (A139T +1 more)	Single nucleotide variant (missense variant)	SEPN1-Related Disorders +4 more	GConflicting classifications of pathogenicity
Select item 212149	NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer)	SELENON	Duplication (inframe_insertion)	Congenital myopathy 4A, autosomal dominant +3 more	GLikely pathogenic
Select item 212413	NM_152263.4(TPM3):c.92A>C (p.Lys31Thr)	TPM3 (K31T)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 4B, autosomal recessive +4 more	GBenign/Likely benign
Select item 93555	NM_001100.4(ACTA1):c.996C>A (p.Ile332=)	ACTA1	Single nucleotide variant (synonymous variant)	Familial restrictive cardiomyopathy +3 more	GBenign/Likely benign
Select item 210091	NM_001100.4(ACTA1):c.867C>T (p.Ile289=)	ACTA1	Single nucleotide variant (synonymous variant)	Familial restrictive cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 128259	NM_001100.4(ACTA1):c.132C>T (p.Gly44=)	ACTA1	Single nucleotide variant (synonymous variant)	Familial restrictive cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 93547	NM_001100.4(ACTA1):c.130-5T>C	ACTA1	Single nucleotide variant (intron variant)	Familial restrictive cardiomyopathy +4 more	GBenign
Select item 93546	NM_001100.4(ACTA1):c.130-10G>C	ACTA1	Single nucleotide variant (intron variant)	Familial restrictive cardiomyopathy +4 more	GBenign
Select item 43056	NM_000257.4(MYH7):c.5106G>A (p.Ala1702=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 42945	NM_000257.4(MYH7):c.3036C>T (p.Ala1012=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 42864	NM_000257.4(MYH7):c.1767C>T (p.Asn589=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GBenign FDA Recognized database
Select item 12988	NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	RYR1 (R109W)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 198090	NM_000540.3(RYR1):c.526G>A (p.Glu176Lys)	RYR1 (E176K)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 159862	NM_000540.3(RYR1):c.897G>C (p.Val299=)	RYR1	Single nucleotide variant (synonymous variant)	King Denborough syndrome +7 more	GBenign/Likely benign
Select item 159863	NM_000540.3(RYR1):c.906C>T (p.Asp302=)	RYR1	Single nucleotide variant (synonymous variant)	King Denborough syndrome +7 more	GBenign/Likely benign
Select item 93243	NM_000540.3(RYR1):c.1077T>C (p.Ala359=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GBenign
Select item 194002	NM_000540.3(RYR1):c.1172G>A (p.Arg391His)	RYR1 (R391H)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +7 more	GUncertain significance
Select item 133076	NM_000540.3(RYR1):c.1453A>G (p.Met485Val)	LOC129391106, RYR1 (M485V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 159838	NM_000540.3(RYR1):c.1577-6C>G	RYR1	Single nucleotide variant (intron variant)	King Denborough syndrome +8 more	GBenign/Likely benign
Select item 93258	NM_000540.3(RYR1):c.1668G>A (p.Ser556=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GBenign
Select item 159840	NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)	RYR1 (D708N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 93259	NM_000540.3(RYR1):c.2286C>T (p.Pro762=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GBenign
Select item 212100	NM_000540.3(RYR1):c.2654G>A (p.Arg885His)	RYR1 (R885H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 93261	NM_000540.3(RYR1):c.2943G>A (p.Thr981=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GBenign
Select item 159847	NM_000540.3(RYR1):c.4090G>T (p.Gly1364Trp)	RYR1 (G1364W)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GUncertain significance
Select item 161372	NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	RYR1 (R1469W)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +7 more	GConflicting classifications of pathogenicity
Select item 159851	NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)	RYR1 (I1571V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 224380	NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)	RYR1 (R1667C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 159856	NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	RYR1 (R2241*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 1 +8 more	GConflicting classifications of pathogenicity
Select item 133172	NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)	RYR1 (V2280I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 133191	NM_000540.3(RYR1):c.7260C>T (p.His2420=)	RYR1	Single nucleotide variant (synonymous variant)	Central core myopathy +8 more	GBenign
Select item 93295	NM_000540.3(RYR1):c.7872C>T (p.Arg2624=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GBenign
Select item 93296	NM_000540.3(RYR1):c.7977G>A (p.Thr2659=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GBenign
Select item 93297	NM_000540.3(RYR1):c.8118T>C (p.Ile2706=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GBenign
Select item 93298	NM_000540.3(RYR1):c.8190T>C (p.Asp2730=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GBenign
Select item 93299	NM_000540.3(RYR1):c.8337G>A (p.Glu2779=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GBenign
Select item 133223	NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser)	LOC126862902, RYR1 (T2787S)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GBenign FDA Recognized database
Select item 93300	NM_000540.3(RYR1):c.8589T>C (p.Ser2863=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GBenign
Select item 93302	NM_000540.3(RYR1):c.8693-10G>C	RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GBenign
Select item 133244	NM_000540.3(RYR1):c.9555-13C>T	RYR1	Single nucleotide variant (intron variant)	Central core myopathy +8 more	GBenign
Select item 329090	NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)	RYR1 (E3212G)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 132990	NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)	RYR1 (R3366H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 42098	NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)	RYR1 (C3402G)	Single nucleotide variant (missense variant)	RYR1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 132999	NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln)	RYR1 (E3578Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 159829	NM_000540.3(RYR1):c.11141+7A>G	RYR1	Single nucleotide variant (intron variant)	King Denborough syndrome +7 more	GBenign/Likely benign
Select item 133021	NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)	RYR1 (Y3928C)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +8 more	GConflicting classifications of pathogenicity
Select item 93247	NM_000540.3(RYR1):c.12741C>T (p.Ala4247=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GBenign/Likely benign
Select item 159834	NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met)	RYR1 (T4294M +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 133043	NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)	RYR1 (A4295V +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 133049	NM_000540.3(RYR1):c.13503G>A (p.Pro4501=)	RYR1	Single nucleotide variant (synonymous variant)	Central core myopathy +8 more	GBenign/Likely benign
Select item 93252	NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)	RYR1 (D4505H +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 159836	NM_000540.3(RYR1):c.14589C>T (p.Phe4863=)	RYR1	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 212095	NM_000540.3(RYR1):c.14646G>A (p.Thr4882=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GConflicting classifications of pathogenicity
Select item 420588	NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)	RYR1 (F4924del +1 more)	Microsatellite (inframe_deletion)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 133098	NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)	RYR1 (P4973L +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database

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Items: 56