SACS[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 311489	NM_014363.6(SACS):c.*1292A>T	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 311490	NM_014363.6(SACS):c.*1200A>G	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 883093	NM_014363.6(SACS):c.*1162C>G	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 883094	NM_014363.6(SACS):c.*1142G>A	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 883095	NM_014363.6(SACS):c.*1108G>A	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 883096	NM_014363.6(SACS):c.*1039C>T	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 311492	NM_014363.6(SACS):c.*942A>G	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 883866	NM_014363.6(SACS):c.*919T>C	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 883867	NM_014363.6(SACS):c.*916T>A	SACS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 311493	NM_014363.6(SACS):c.*882A>C	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 883868	NM_014363.6(SACS):c.*821A>G	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia +2 more	GConflicting classifications of pathogenicity
Select item 883869	NM_014363.6(SACS):c.*777T>C	SACS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 883870	NM_014363.6(SACS):c.*716T>G	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 883871	NM_014363.6(SACS):c.*711A>G	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 880575	NM_014363.6(SACS):c.*625T>A	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 880576	NM_014363.6(SACS):c.*569G>A	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 880577	NM_014363.6(SACS):c.*461G>A	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 880578	NM_014363.6(SACS):c.*394G>A	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 311496	NM_014363.6(SACS):c.*307A>G	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 881990	NM_014363.6(SACS):c.*222T>C	SACS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 881991	NM_014363.6(SACS):c.*218T>C	SACS	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 554274	NM_014363.6(SACS):c.*20del	SACS	Deletion (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 504206	NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?)	SACS	Microsatellite (frameshift variant +1 more)	Spastic paraplegia +2 more	GUncertain significance
Select item 1661069	NM_014363.6(SACS):c.13737G>A (p.Val4579=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1110465	NM_014363.6(SACS):c.13735G>A (p.Val4579Met)	SACS (V4432M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2809234	NM_014363.6(SACS):c.13734A>G (p.Lys4578=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1482788	NM_014363.6(SACS):c.13732A>T (p.Lys4578Ter)	SACS (K4578* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia	GUncertain significance
Select item 2966729	NM_014363.6(SACS):c.13725G>A (p.Met4575Ile)	SACS (M4428I +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 2156423	NM_014363.6(SACS):c.13723A>T (p.Met4575Leu)	SACS (M4428L +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 3022295	NM_014363.6(SACS):c.13722T>C (p.Phe4574=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1556233	NM_014363.6(SACS):c.13719T>C (p.Asn4573=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 193707	NM_014363.6(SACS):c.13717A>C (p.Asn4573His)	SACS (N4573H +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1981761	NM_014363.6(SACS):c.13716A>G (p.Glu4572=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2816200	NM_014363.6(SACS):c.13713T>A (p.Leu4571=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1145040	NM_014363.6(SACS):c.13704A>C (p.Ile4568=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2200977	NM_014363.6(SACS):c.13699A>G (p.Ile4567Val)	SACS (I4567V +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 938190	NM_014363.6(SACS):c.13694C>A (p.Ala4565Asp)	SACS (A4418D +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia +1 more	GConflicting classifications of pathogenicity
Select item 1148206	NM_014363.6(SACS):c.13692T>C (p.Thr4564=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1142562	NM_014363.6(SACS):c.13686A>G (p.Glu4562=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1586511	NM_014363.6(SACS):c.13680G>T (p.Val4560=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2154962	NM_014363.6(SACS):c.13674G>A (p.Met4558Ile)	SACS (M4411I +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 2913932	NM_014363.6(SACS):c.13672A>G (p.Met4558Val)	SACS (M4411V +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 1570694	NM_014363.6(SACS):c.13671T>A (p.Ala4557=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1649201	NM_014363.6(SACS):c.13668T>C (p.Val4556=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2631109	NM_014363.6(SACS):c.13660T>A (p.Ser4554Thr)	SACS (S4407T +1 more)	Single nucleotide variant (missense variant)	SACS-related disorder	GUncertain significance
Select item 3255614	NM_014363.6(SACS):c.13658C>T (p.Thr4553Ile)	SACS (T4406I +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2374927	NM_014363.6(SACS):c.13646A>G (p.Asn4549Ser)	SACS (N4549S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 554337	NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp)	SACS (N4549D +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 1540282	NM_014363.6(SACS):c.13629C>G (p.Pro4543=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3239695	NM_014363.6(SACS):c.13622dup (p.Leu4541fs)	SACS (L4394fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 1343647	NM_014363.6(SACS):c.13621T>A (p.Leu4541Met)	SACS (L4394M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2726257	NM_014363.6(SACS):c.13618G>A (p.Asp4540Asn)	SACS (D4540N +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 496951	NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser)	SACS (P4539S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1116827	NM_014363.6(SACS):c.13614C>T (p.Tyr4538=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 842578	NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter)	SACS (Y4538* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic
Select item 555872	NM_014363.6(SACS):c.13614C>G (p.Tyr4538Ter)	SACS (Y4538* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 1806958	NM_014363.6(SACS):c.13610G>A (p.Arg4537Lys)	SACS (R4390K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2504052	NM_014363.6(SACS):c.13601del (p.Ser4533_Leu4534insTer)	SACS	Deletion (nonsense)	not specified	GUncertain significance
Select item 2809098	NM_014363.6(SACS):c.13600T>C (p.Leu4534=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2082477	NM_014363.6(SACS):c.13597A>G (p.Ser4533Gly)	SACS (S4386G +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 2993688	NM_014363.6(SACS):c.13590T>G (p.Gly4530=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 994933	NM_014363.6(SACS):c.13590T>C (p.Gly4530=)	SACS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1172523	NM_014363.6(SACS):c.13588G>T (p.Gly4530Cys)	SACS (G4383C +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 2889130	NM_014363.6(SACS):c.13587T>C (p.Tyr4529=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1585245	NM_014363.6(SACS):c.13575A>G (p.Thr4525=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1550275	NM_014363.6(SACS):c.13575A>T (p.Thr4525=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 458254	NM_014363.6(SACS):c.13574C>G (p.Thr4525Arg)	SACS (T4525R +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 2894488	NM_014363.6(SACS):c.13573A>G (p.Thr4525Ala)	SACS (T4525A +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 1157956	NM_014363.6(SACS):c.13569T>C (p.Val4523=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 881992	NM_014363.6(SACS):c.13563T>C (p.Asn4521=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 3068576	NM_014363.6(SACS):c.13561_13562del (p.Thr4520_Asn4521insTer)	SACS	Deletion (nonsense)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 1627410	NM_014363.6(SACS):c.13557G>C (p.Leu4519=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1530489	NM_014363.6(SACS):c.13545A>G (p.Gln4515=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3240395	NM_014363.6(SACS):c.13543C>T (p.Gln4515Ter)	SACS (Q4368* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 2849026	NM_014363.6(SACS):c.13542G>A (p.Gln4514=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 558492	NM_014363.6(SACS):c.13540C>T (p.Gln4514Ter)	SACS (Q4514* +1 more)	Single nucleotide variant (nonsense)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 3157475	NM_014363.6(SACS):c.13538G>C (p.Ser4513Thr)	SACS (S4366T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 373337	NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn)	SACS (S4513N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 696840	NM_014363.6(SACS):c.13536T>C (p.Tyr4512=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1077356	NM_014363.6(SACS):c.13533A>G (p.Glu4511=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1952351	NM_014363.6(SACS):c.13530G>A (p.Glu4510=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 212110	NM_014363.6(SACS):c.13527dup (p.Glu4510fs)	SACS (E4510fs +1 more)	Duplication (frameshift variant)	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 2415067	NM_014363.6(SACS):c.13526T>C (p.Ile4509Thr)	SACS (I4362T +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1806960	NM_014363.6(SACS):c.13520A>G (p.Gln4507Arg)	SACS (Q4360R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 311497	NM_014363.6(SACS):c.13512A>G (p.Ala4504=)	SACS	Single nucleotide variant (synonymous variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 989608	NM_014363.6(SACS):c.13509T>G (p.Thr4503=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 751427	NM_014363.6(SACS):c.13506A>G (p.Pro4502=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2159573	NM_014363.6(SACS):c.13503A>C (p.Lys4501Asn)	SACS (K4354N +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1119826	NM_014363.6(SACS):c.13500A>G (p.Val4500=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3315998	NM_014363.6(SACS):c.13496A>T (p.Asp4499Val)	SACS (D4352V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2121805	NM_014363.6(SACS):c.13487_13488del (p.Lys4495_Ser4496insTer)	SACS	Deletion (nonsense)	Spastic paraplegia	GPathogenic
Select item 1151346	NM_014363.6(SACS):c.13482A>C (p.Gly4494=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1604925	NM_014363.6(SACS):c.13476G>A (p.Val4492=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1138697	NM_014363.6(SACS):c.13476G>C (p.Val4492=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 527999	NM_014363.6(SACS):c.13474G>A (p.Val4492Met)	SACS (V4492M +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1143457	NM_014363.6(SACS):c.13473T>C (p.Ala4491=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2044880	NM_014363.6(SACS):c.13467C>T (p.Asp4489=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1665502	NM_014363.6(SACS):c.13464T>C (p.Ala4488=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 623376	NM_014363.6(SACS):c.13454T>C (p.Leu4485Ser)	SACS (L4485S +1 more)	Single nucleotide variant (missense variant)	Charlevoix-Saguenay spastic ataxia	GUncertain significance
Select item 416835	NM_014363.6(SACS):c.13443C>G (p.Thr4481=)	SACS	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign

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