ClinVar for Gene (Select 6263) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337538	NM_001036.6(RYR3):c.5512C>T (p.Gln1838Ter)	RYR3 (Q1838*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3336148	NM_001036.6(RYR3):c.8154T>G (p.Pro2718=)	RYR3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3336126	NM_001036.6(RYR3):c.7821-5C>G	RYR3	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3315931	NM_001036.6(RYR3):c.1348T>A (p.Phe450Ile)	RYR3 (F450I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315930	NM_001036.6(RYR3):c.754G>A (p.Glu252Lys)	RYR3 (E252K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315929	NM_001036.6(RYR3):c.2372T>A (p.Met791Lys)	RYR3 (M791K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315928	NM_001036.6(RYR3):c.9766G>A (p.Ala3256Thr)	RYR3 (A3256T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315927	NM_001036.6(RYR3):c.14308A>T (p.Ile4770Phe)	AVEN, RYR3 (I4765F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315926	NM_001036.6(RYR3):c.1264G>T (p.Val422Phe)	RYR3 (V422F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315925	NM_001036.6(RYR3):c.10183T>A (p.Ser3395Thr)	RYR3 (S3390T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315923	NM_001036.6(RYR3):c.11611C>A (p.Leu3871Ile)	RYR3 (L3871I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315922	NM_001036.6(RYR3):c.13898T>C (p.Val4633Ala)	AVEN, RYR3 (V4628A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315921	NM_001036.6(RYR3):c.2692A>G (p.Asn898Asp)	RYR3 (N898D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315920	NM_001036.6(RYR3):c.14116G>A (p.Asp4706Asn)	AVEN, RYR3 (D4706N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315919	NM_001036.6(RYR3):c.9540C>G (p.Ile3180Met)	RYR3 (I3180M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315918	NM_001036.6(RYR3):c.4204T>C (p.Ser1402Pro)	RYR3 (S1402P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315917	NM_001036.6(RYR3):c.4839C>G (p.Ile1613Met)	RYR3 (I1613M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315916	NM_001036.6(RYR3):c.13608C>G (p.Asp4536Glu)	RYR3 (D4531E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315914	NM_001036.6(RYR3):c.6026C>G (p.Thr2009Ser)	RYR3 (T2009S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315913	NM_001036.6(RYR3):c.13276T>G (p.Phe4426Val)	RYR3 (F4421V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315912	NM_001036.6(RYR3):c.8980A>G (p.Thr2994Ala)	RYR3 (T2994A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315911	NM_001036.6(RYR3):c.9621G>C (p.Arg3207Ser)	RYR3 (R3207S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315910	NM_001036.6(RYR3):c.425A>G (p.His142Arg)	RYR3 (H142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315908	NM_001036.6(RYR3):c.6160T>G (p.Tyr2054Asp)	RYR3 (Y2054D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315907	NM_001036.6(RYR3):c.10724C>T (p.Pro3575Leu)	RYR3 (P3575L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250805	NM_001036.6(RYR3):c.10014C>T (p.Ala3338=)	RYR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3234337	NM_001036.6(RYR3):c.4261A>G (p.Met1421Val)	RYR3 (M1421V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234313	NM_001036.6(RYR3):c.1307T>C (p.Ile436Thr)	RYR3 (I436T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3157380	NM_001036.6(RYR3):c.981G>C (p.Lys327Asn)	RYR3 (K327N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157379	NM_001036.6(RYR3):c.9304C>G (p.Pro3102Ala)	RYR3 (P3102A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157378	NM_001036.6(RYR3):c.9178G>T (p.Ala3060Ser)	RYR3 (A3060S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157377	NM_001036.6(RYR3):c.8183T>C (p.Leu2728Pro)	RYR3 (L2728P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157376	NM_001036.6(RYR3):c.7271T>A (p.Leu2424His)	RYR3 (L2424H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157375	NM_001036.6(RYR3):c.7195C>A (p.Leu2399Ile)	RYR3 (L2399I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157374	NM_001036.6(RYR3):c.6707G>C (p.Gly2236Ala)	RYR3 (G2236A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157373	NM_001036.6(RYR3):c.6474C>A (p.Asp2158Glu)	RYR3 (D2158E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157372	NM_001036.6(RYR3):c.5759A>C (p.Asp1920Ala)	RYR3 (D1920A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157370	NM_001036.6(RYR3):c.5438A>G (p.Tyr1813Cys)	RYR3 (Y1813C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157369	NM_001036.6(RYR3):c.5260G>T (p.Val1754Leu)	RYR3 (V1754L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157368	NM_001036.6(RYR3):c.5258C>G (p.Ser1753Cys)	RYR3 (S1753C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157367	NM_001036.6(RYR3):c.5147G>A (p.Gly1716Glu)	RYR3 (G1716E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157366	NM_001036.6(RYR3):c.4552C>T (p.Arg1518Cys)	RYR3 (R1518C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157365	NM_001036.6(RYR3):c.4130G>A (p.Arg1377Gln)	RYR3 (R1377Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157364	NM_001036.6(RYR3):c.392A>G (p.Asp131Gly)	RYR3 (D131G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157362	NM_001036.6(RYR3):c.3052C>T (p.Arg1018Cys)	RYR3 (R1018C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157361	NM_001036.6(RYR3):c.2684G>A (p.Arg895Gln)	RYR3 (R895Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157360	NM_001036.6(RYR3):c.23G>A (p.Gly8Asp)	RYR3 (G8D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157359	NM_001036.6(RYR3):c.1466T>C (p.Ile489Thr)	RYR3 (I489T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157358	NM_001036.6(RYR3):c.12830T>C (p.Ile4277Thr)	RYR3 (I4277T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157357	NM_001036.6(RYR3):c.12452G>A (p.Arg4151Lys)	RYR3 (R4151K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157355	NM_001036.6(RYR3):c.12141G>T (p.Glu4047Asp)	RYR3 (E4047D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157354	NM_001036.6(RYR3):c.11535T>A (p.His3845Gln)	RYR3 (H3840Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157353	NM_001036.6(RYR3):c.10823A>C (p.Glu3608Ala)	RYR3 (E3603A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157352	NM_001036.6(RYR3):c.10511C>G (p.Ser3504Cys)	RYR3 (S3499C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157351	NM_001036.6(RYR3):c.10266C>G (p.Asp3422Glu)	RYR3 (D3417E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148920	GRCh37/hg19 15q13.3-14(chr15:31677578-34254499)x3	ARHGAP11A, AVEN +7 more	Copy number gain	not provided	GUncertain significance
Select item 3065469	NM_001036.6(RYR3):c.10495C>A (p.Leu3499Met)	RYR3 (L3494M +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy 20	GUncertain significance
Select item 3065468	NM_001036.6(RYR3):c.10063C>T (p.Arg3355Trp)	RYR3 (R3350W +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy 20 +1 more	GUncertain significance
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063375	GRCh37/hg19 15q13.3-14(chr15:33449783-34098340)x1	RYR3	Copy number loss	not specified	GUncertain significance
Select item 3055139	NM_001036.6(RYR3):c.4626T>C (p.Cys1542=)	RYR3	Single nucleotide variant (synonymous variant)	RYR3-related disorder	GLikely benign
Select item 3052994	NM_001036.6(RYR3):c.12021C>T (p.Asn4007=)	RYR3	Single nucleotide variant (synonymous variant)	RYR3-related disorder	GLikely benign
Select item 3052673	NM_001036.6(RYR3):c.273C>T (p.Gly91=)	RYR3	Single nucleotide variant (synonymous variant)	RYR3-related disorder	GLikely benign
Select item 3051019	NM_001036.6(RYR3):c.4744A>G (p.Ser1582Gly)	RYR3 (S1582G)	Single nucleotide variant (missense variant)	RYR3-related disorder	GUncertain significance
Select item 3048200	NM_001036.6(RYR3):c.6775C>T (p.Pro2259Ser)	RYR3 (P2259S)	Single nucleotide variant (missense variant)	RYR3-related disorder	GUncertain significance
Select item 3047426	NM_001036.6(RYR3):c.1095C>G (p.Thr365=)	RYR3	Single nucleotide variant (synonymous variant)	RYR3-related disorder	GLikely benign
Select item 3047049	NM_001036.6(RYR3):c.3561C>T (p.Phe1187=)	RYR3	Single nucleotide variant (synonymous variant)	RYR3-related disorder	GLikely benign
Select item 3040217	NM_001036.6(RYR3):c.4491C>T (p.Pro1497=)	RYR3	Single nucleotide variant (synonymous variant)	RYR3-related disorder	GLikely benign
Select item 3036987	NM_001036.6(RYR3):c.4986G>A (p.Lys1662=)	RYR3	Single nucleotide variant (synonymous variant)	RYR3-related disorder	GLikely benign
Select item 3032852	NM_001036.6(RYR3):c.1791T>A (p.Val597=)	RYR3	Single nucleotide variant (synonymous variant)	RYR3-related disorder	GLikely benign
Select item 3027194	NM_001036.6(RYR3):c.773C>T (p.Thr258Ile)	RYR3 (T258I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026918	NM_001036.6(RYR3):c.7589C>T (p.Ala2530Val)	RYR3 (A2530V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026683	NM_001036.6(RYR3):c.1812C>T (p.Leu604=)	RYR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025187	NM_001036.6(RYR3):c.10196A>G (p.His3399Arg)	RYR3 (H3394R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024374	GRCh38/hg38 15q13.3-14(chr15:32640661-34525062)	LOC130056751, LOC130056752 +62 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3008340	NM_001036.6(RYR3):c.8756-19A>G	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GBenign
Select item 2921206	NM_001036.6(RYR3):c.4006G>C (p.Ala1336Pro)	RYR3 (A1336P)	Single nucleotide variant (missense variant)	Congenital myopathy 20	GUncertain significance
Select item 2895375	NM_001036.6(RYR3):c.11263C>T (p.Arg3755Trp)	RYR3 (R3750W +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2762374	NM_001036.6(RYR3):c.3280G>A (p.Val1094Met)	RYR3 (V1094M)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2705828	NM_001036.6(RYR3):c.7839A>G (p.Lys2613=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 2689905	NM_001036.6(RYR3):c.12785C>A (p.Thr4262Asn)	RYR3 (T4257N +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy 20	GUncertain significance
Select item 2689904	NM_001036.6(RYR3):c.11914G>T (p.Asp3972Tyr)	RYR3 (D3967Y +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy 20	GUncertain significance
Select item 2685508	GRCh37/hg19 15q13.3-14(chr15:32914240-34671790)x1	AVEN, CHRM5 +13 more	Copy number loss	not provided	GUncertain significance
Select item 2685507	GRCh37/hg19 15q13.3-14(chr15:32914239-34780626)x1	ARHGAP11A, AVEN +13 more	Copy number loss	not provided	GUncertain significance
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2672582	NM_001036.6(RYR3):c.4396-5C>T	RYR3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2645146	NM_001036.6(RYR3):c.13989A>T (p.Val4663=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645145	NM_001036.6(RYR3):c.12909C>G (p.Leu4303=)	RYR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645144	NM_001036.6(RYR3):c.10503-1446_10503-1445del	RYR3	Deletion (intron variant)	not provided	GLikely benign
Select item 2645143	NM_001036.6(RYR3):c.7899+8T>C	RYR3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2645142	NM_001036.6(RYR3):c.7777G>A (p.Asp2593Asn)	RYR3 (D2593N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645141	NM_001036.6(RYR3):c.7272C>T (p.Leu2424=)	RYR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645140	NM_001036.6(RYR3):c.5076G>A (p.Arg1692=)	RYR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645139	NM_001036.6(RYR3):c.2945T>C (p.Leu982Ser)	RYR3 (L982S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645138	NM_001036.6(RYR3):c.2883C>T (p.Asn961=)	RYR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645137	NM_001036.6(RYR3):c.2790C>T (p.Leu930=)	RYR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645136	NM_001036.6(RYR3):c.2195A>G (p.Asn732Ser)	RYR3 (N732S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645135	NM_001036.6(RYR3):c.1775G>A (p.Gly592Glu)	RYR3 (G592E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636183	NM_001036.6(RYR3):c.14478G>A (p.Met4826Ile)	AVEN, RYR3 (M4821I +1 more)	Single nucleotide variant (missense variant)	RYR3-related disorder	GUncertain significance

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