SACS[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 155130	GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1	ATP12A, C1QTNF9 +181 more	Copy number loss	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 58233	GRCh38/hg38 13q12.12(chr13:22672788-23489498)x3	LINC00327, LINC00362 +21 more	Copy number gain	See cases	GUncertain significance
Select item 146307	GRCh38/hg38 13q12.12(chr13:22764286-24444616)x3	C1QTNF9, C1QTNF9B +62 more	Copy number gain	See cases	GLikely benign
Select item 146689	GRCh38/hg38 13q12.12(chr13:22822881-23533846)x1	LINC00327, LINC00362 +21 more	Copy number loss	See cases	GUncertain significance
Select item 1684647	NC_000013.11:g.22924987_24337204del	LOC130009370, LOC130009377 +57 more	Deletion	See cases	GUncertain significance
Select item 57578	GRCh38/hg38 13q12.12(chr13:22941375-24286142)x3	C1QTNF9B, LINC00327 +55 more	Copy number gain	See cases	GUncertain significance
Select item 151247	GRCh38/hg38 13q12.12(chr13:22943845-24336546)x3	C1QTNF9, C1QTNF9B +57 more	Copy number gain	See cases	GUncertain significance
Select item 149939	GRCh38/hg38 13q12.12(chr13:22943845-24355293)x3	C1QTNF9, C1QTNF9B +57 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 151376	GRCh38/hg38 13q12.12(chr13:22959219-24384434)x3	C1QTNF9, C1QTNF9B +57 more	Copy number gain	See cases	GUncertain significance
Select item 545158	NC_000013.11:g.(?_22968338)_(24323208_?)del	LOC130009386, LOC130009387 +55 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 57579	GRCh38/hg38 13q12.12(chr13:22980339-24363444)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 151244	GRCh38/hg38 13q12.12(chr13:22980365-24336546)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 149152	GRCh38/hg38 13q12.12(chr13:22980365-24370481)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 148669	GRCh38/hg38 13q12.12(chr13:22980365-23533846)x1	LINC00327, LINC00362 +16 more	Copy number loss	See cases	GUncertain significance
Select item 59440	GRCh38/hg38 13q12.12(chr13:22992823-23499449)x1	LINC00327, LINC00362 +16 more	Copy number loss	See cases	GUncertain significance
Select item 57520	GRCh38/hg38 13q12.12(chr13:22992823-24316005)x1	C1QTNF9, C1QTNF9B +54 more	Copy number loss	See cases	GUncertain significance
Select item 33369	GRCh38/hg38 13q12.12(chr13:22992823-24336605)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 144578	GRCh38/hg38 13q12.12(chr13:22992950-24336636)x1	C1QTNF9, C1QTNF9B +55 more	Copy number loss	See cases	GUncertain significance
Select item 145530	GRCh38/hg38 13q12.12(chr13:23045243-24253602)x1	C1QTNF9B, LINC00327 +47 more	Copy number loss	See cases	GUncertain significance
Select item 658447	NC_000013.10:g.(?_23667335)_(23985388_?)dup	LOC130009364, LOC130009365 +10 more	Duplication	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 652383	NC_000013.11:g.(?_23093196)_(23411249_?)del	LINC00362, LOC130009362 +10 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GPathogenic
Select item 644837	NC_000013.11:g.(?_23093196)_(23368497_?)del	LINC00362, LOC130009362 +5 more	Deletion	Spastic paraplegia	GPathogenic
Select item 583650	NC_000013.11:g.(?_23093196)_(23411259_?)del	LINC00362, LOC130009362 +10 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic
Select item 461620	NC_000013.10:g.(?_23667335)_(23985398_?)dup	LINC00362, LOC130009362 +10 more	Duplication	Spastic paraplegia	GUncertain significance
Select item 144165	GRCh38/hg38 13q12.12(chr13:23106962-23856032)x1	LINC00327, LINC00362 +33 more	Copy number loss	See cases	GPathogenic
Select item 58234	GRCh38/hg38 13q12.12(chr13:23172478-23671209)x3	LINC00327, LOC130009362 +23 more	Copy number gain	See cases	GUncertain significance
Select item 92657	NM_000231.3(SGCG):c.705T>C (p.Leu235=)	SACS, SGCG	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy, recessive +5 more	GBenign/Likely benign
Select item 167681	NM_000231.3(SGCG):c.860A>G (p.Asn287Ser)	SACS, SGCG (N287S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 92652	NM_000231.3(SGCG):c.*13C>T	SACS, SGCG	Single nucleotide variant (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +5 more	GBenign/Likely benign
Select item 883804	NM_000231.3(SGCG):c.*54C>T	SACS, SGCG	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 311484	NM_000231.3(SGCG):c.*136T>C	SACS, SGCG	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia +4 more	GBenign/Likely benign
Select item 288428	NM_000231.3(SGCG):c.*254G>A	SACS, SGCG	Single nucleotide variant (3 prime UTR variant)	not specified +5 more	GBenign/Likely benign
Select item 311486	NM_000231.3(SGCG):c.*295T>C	SGCG, SACS	Single nucleotide variant (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +4 more	GBenign/Likely benign
Select item 3236305	Single allele	LOC130009365, LOC130009366 +4 more	Deletion	Charlevoix-Saguenay spastic ataxia	GPathogenic
Select item 3236270	Single allele	LOC130009365, LOC130009366 +5 more	Deletion	Charlevoix-Saguenay spastic ataxia	GPathogenic
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 311491	NM_014363.6(SACS):c.*1046CTTTA[1]	SGCG, SACS	Microsatellite (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +2 more	GLikely benign
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)	not provided +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 311494	NM_014363.6(SACS):c.*677C>T	SACS, SGCG	Single nucleotide variant (3 prime UTR variant)	Charlevoix-Saguenay spastic ataxia +3 more	GLikely benign
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 311495	NM_014363.6(SACS):c.*484T>C	SGCG, SACS	Single nucleotide variant (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +3 more	GLikely benign
Select item 369062	NC_000013.11:g.23329665G>A	SACS, SGCG	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
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)	Spastic paraplegia +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

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