SART1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	LOC130006205, LOC130006206 +282 more	Copy number loss	See cases	GPathogenic
Select item 644273	NC_000011.9:g.(?_65633902)_(66115026_?)dup	LOC130006108, LOC130006109 +72 more	Duplication	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 2330556	NM_005146.5(SART1):c.76A>G (p.Thr26Ala)	SART1 (T26A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359134	NM_005146.5(SART1):c.169C>T (p.Arg57Trp)	SART1 (R57W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329170	NM_005146.5(SART1):c.197G>A (p.Gly66Glu)	SART1 (G66E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210136	NM_005146.5(SART1):c.221C>T (p.Ala74Val)	SART1 (A74V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401623	NM_005146.5(SART1):c.254A>C (p.Gln85Pro)	SART1 (Q85P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401625	NM_005146.5(SART1):c.255G>C (p.Gln85His)	SART1 (Q85H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402389	NM_005146.5(SART1):c.271C>T (p.Arg91Trp)	SART1 (R91W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315851	NM_005146.5(SART1):c.360C>G (p.Ile120Met)	SART1 (I120M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535408	NM_005146.5(SART1):c.431C>T (p.Ala144Val)	SART1 (A144V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316879	NM_005146.5(SART1):c.476T>C (p.Met159Thr)	SART1 (M159T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555544	NM_005146.5(SART1):c.491G>C (p.Arg164Pro)	SART1 (R164P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569826	NM_005146.5(SART1):c.595G>A (p.Asp199Asn)	SART1 (D199N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218270	NM_005146.5(SART1):c.704C>T (p.Thr235Ile)	SART1 (T235I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592789	NM_005146.5(SART1):c.718G>A (p.Glu240Lys)	SART1 (E240K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411192	NM_005146.5(SART1):c.734G>A (p.Arg245Gln)	SART1 (R245Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409918	NM_005146.5(SART1):c.874G>A (p.Val292Met)	SART1 (V292M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495119	NM_005146.5(SART1):c.1049G>A (p.Arg350His)	SART1 (R350H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331676	NM_005146.5(SART1):c.1053G>C (p.Leu351Phe)	SART1 (L351F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549005	NM_005146.5(SART1):c.1088G>A (p.Arg363Gln)	SART1 (R363Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371163	NM_005146.5(SART1):c.1144G>C (p.Val382Leu)	SART1 (V382L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605762	NM_005146.5(SART1):c.1165G>A (p.Glu389Lys)	SART1 (E389K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343245	NM_005146.5(SART1):c.1228C>G (p.Arg410Gly)	SART1 (R410G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482121	NM_005146.5(SART1):c.1229G>T (p.Arg410Leu)	SART1 (R410L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250643	NM_005146.5(SART1):c.1231A>G (p.Lys411Glu)	SART1 (K411E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327183	NM_005146.5(SART1):c.1305T>G (p.Phe435Leu)	SART1 (F435L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284431	NM_005146.5(SART1):c.1318C>T (p.Arg440Trp)	SART1 (R440W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554814	NM_005146.5(SART1):c.1334G>A (p.Arg445His)	SART1 (R445H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557581	NM_005146.5(SART1):c.1339G>A (p.Val447Met)	SART1 (V447M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318224	NM_005146.5(SART1):c.1460C>T (p.Pro487Leu)	SART1 (P487L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461924	NM_005146.5(SART1):c.1468C>G (p.Leu490Val)	SART1 (L490V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325254	NM_005146.5(SART1):c.1479C>G (p.Asp493Glu)	SART1 (D493E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549730	NM_005146.5(SART1):c.1547A>C (p.Gln516Pro)	SART1 (Q516P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594257	NM_005146.5(SART1):c.1567G>A (p.Glu523Lys)	SART1 (E523K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324278	NM_005146.5(SART1):c.1654G>A (p.Val552Met)	SART1 (V552M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555408	NM_005146.5(SART1):c.1844A>G (p.Lys615Arg)	SART1 (K615R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474923	NM_005146.5(SART1):c.1941C>G (p.Asn647Lys)	SART1 (N647K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361580	NM_005146.5(SART1):c.2107G>A (p.Gly703Ser)	SART1 (G703S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 932509	NM_005146.5(SART1):c.2253C>T (p.Asp751=)	SART1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2456568	NM_005146.5(SART1):c.2344C>G (p.Pro782Ala)	SART1 (P782A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	DRAP1, SNX32 +81 more	Deletion	Glycogen storage disease, type V +1 more	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 52