SGSM3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 2551708	NM_015705.6(SGSM3):c.11G>A (p.Ser4Asn)	SGSM3 (S4N)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3161111	NM_015705.6(SGSM3):c.32C>T (p.Pro11Leu)	SGSM3 (P11L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 782757	NM_015705.6(SGSM3):c.58T>C (p.Trp20Arg)	SGSM3 (W20R)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 3317990	NM_015705.6(SGSM3):c.68A>G (p.Glu23Gly)	SGSM3 (E23G)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3161106	NM_015705.6(SGSM3):c.178A>C (p.Ser60Arg)	SGSM3 (S60R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3161109	NM_015705.6(SGSM3):c.188C>T (p.Ala63Val)	SGSM3 (A63V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2379554	NM_015705.6(SGSM3):c.211G>A (p.Ala71Thr)	SGSM3 (A4T +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2346755	NM_015705.6(SGSM3):c.227G>A (p.Arg76Gln)	SGSM3 (R76Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2529054	NM_015705.6(SGSM3):c.271G>A (p.Asp91Asn)	SGSM3 (D24N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 742761	NM_015705.6(SGSM3):c.307C>T (p.Arg103Cys)	SGSM3 (R103C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2405473	NM_015705.6(SGSM3):c.377G>A (p.Arg126Gln)	SGSM3 (R59Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3161112	NM_015705.6(SGSM3):c.422A>G (p.Tyr141Cys)	SGSM3 (Y78C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2384562	NM_015705.6(SGSM3):c.424C>T (p.Arg142Cys)	SGSM3 (R142C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2490718	NM_015705.6(SGSM3):c.427G>C (p.Glu143Gln)	SGSM3 (E76Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2490502	NM_015705.6(SGSM3):c.442A>G (p.Ser148Gly)	SGSM3 (S85G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2366050	NM_015705.6(SGSM3):c.451G>A (p.Asp151Asn)	SGSM3 (D84N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2475365	NM_015705.6(SGSM3):c.481A>C (p.Lys161Gln)	SGSM3 (K98Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2471143	NM_015705.6(SGSM3):c.511G>A (p.Ala171Thr)	SGSM3 (A5T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308573	NM_015705.6(SGSM3):c.520G>A (p.Ala174Thr)	SGSM3 (A107T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 738918	NM_015705.6(SGSM3):c.537C>T (p.Ile179=)	SGSM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2394143	NM_015705.6(SGSM3):c.538G>A (p.Gly180Arg)	SGSM3 (G180R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327947	NM_015705.6(SGSM3):c.565C>T (p.Arg189Trp)	SGSM3 (R126W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593998	NM_015705.6(SGSM3):c.566G>A (p.Arg189Gln)	SGSM3 (R126Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 734027	NM_015705.6(SGSM3):c.594C>T (p.Ile198=)	SGSM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2473163	NM_015705.6(SGSM3):c.654G>C (p.Glu218Asp)	SGSM3 (E151D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465939	NM_015705.6(SGSM3):c.656A>C (p.Asp219Ala)	SGSM3 (D53A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459805	NM_015705.6(SGSM3):c.673T>C (p.Ser225Pro)	SGSM3 (S225P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 791487	NM_015705.6(SGSM3):c.753G>C (p.Leu251=)	SGSM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2263711	NM_015705.6(SGSM3):c.754C>T (p.Arg252Cys)	SGSM3 (R252C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253330	NM_015705.6(SGSM3):c.764T>C (p.Ile255Thr)	SGSM3 (I192T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161113	NM_015705.6(SGSM3):c.782G>A (p.Arg261His)	SGSM3 (R194H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 737283	NM_015705.6(SGSM3):c.819G>A (p.Leu273=)	SGSM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2535590	NM_015705.6(SGSM3):c.828C>G (p.Ile276Met)	SGSM3 (I110M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595801	NM_015705.6(SGSM3):c.848C>T (p.Thr283Met)	SGSM3 (T117M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218808	NM_015705.6(SGSM3):c.862G>A (p.Val288Met)	SGSM3 (V122M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2681540	NM_015705.6(SGSM3):c.865G>A (p.Val289Met)	SGSM3 (V123M +3 more)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 728701	NM_015705.6(SGSM3):c.867G>A (p.Val289=)	SGSM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2409301	NM_015705.6(SGSM3):c.912G>C (p.Glu304Asp)	SGSM3 (E237D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2500991	NM_015705.6(SGSM3):c.981dup (p.Glu328fs)	SGSM3 (E162fs +3 more)	Duplication (frameshift variant +1 more)	SGSM3-related intellectual disability +1 more	GLikely pathogenic
Select item 3161099	NM_015705.6(SGSM3):c.1016A>T (p.Asp339Val)	SGSM3 (D173V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371206	NM_015705.6(SGSM3):c.1039G>A (p.Ala347Thr)	SGSM3 (A181T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231035	NM_015705.6(SGSM3):c.1067G>A (p.Arg356Gln)	SGSM3 (R293Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 738000	NM_015705.6(SGSM3):c.1086C>T (p.Thr362=)	SGSM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 732443	NM_015705.6(SGSM3):c.1095C>T (p.Ala365=)	SGSM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2464248	NM_015705.6(SGSM3):c.1096G>A (p.Val366Met)	SGSM3 (V299M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597495	NM_015705.6(SGSM3):c.1109G>A (p.Arg370His)	SGSM3 (R204H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161100	NM_015705.6(SGSM3):c.1150C>T (p.Leu384Phe)	SGSM3 (L317F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523558	NM_015705.6(SGSM3):c.1159G>A (p.Ala387Thr)	SGSM3 (A221T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2211875	NM_015705.6(SGSM3):c.1162G>A (p.Gly388Ser)	SGSM3 (G325S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3161101	NM_015705.6(SGSM3):c.1196G>A (p.Arg399His)	SGSM3 (R332H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789866	NM_015705.6(SGSM3):c.1206G>A (p.Gln402=)	SGSM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1230159	NM_015705.6(SGSM3):c.1241-19G>T	SGSM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3338213	NM_015705.6(SGSM3):c.1288G>C (p.Glu430Gln)	SGSM3 (E264Q +3 more)	Single nucleotide variant (missense variant +1 more)	Autism	GUncertain significance
Select item 2410161	NM_015705.6(SGSM3):c.1324G>A (p.Val442Met)	SGSM3 (V379M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161102	NM_015705.6(SGSM3):c.1331G>A (p.Arg444His)	SGSM3 (R444H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161103	NM_015705.6(SGSM3):c.1339C>A (p.Gln447Lys)	SGSM3 (Q380K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367850	NM_015705.6(SGSM3):c.1400A>T (p.His467Leu)	SGSM3 (H400L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287016	NM_015705.6(SGSM3):c.1415A>G (p.Glu472Gly)	SGSM3 (E409G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465872	NM_015705.6(SGSM3):c.1423G>A (p.Val475Met)	SGSM3 (V408M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562358	NM_015705.6(SGSM3):c.1430G>A (p.Cys477Tyr)	SGSM3 (C477Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161104	NM_015705.6(SGSM3):c.1435C>T (p.Arg479Cys)	SGSM3 (R313C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525336	NM_015705.6(SGSM3):c.1447C>T (p.Arg483Cys)	SGSM3 (R420C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209296	NM_015705.6(SGSM3):c.1505G>A (p.Arg502His)	SGSM3 (R435H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549833	NM_015705.6(SGSM3):c.1612G>A (p.Asp538Asn)	SGSM3 (D372N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460191	NM_015705.6(SGSM3):c.1658C>T (p.Thr553Met)	SGSM3 (T553M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3161105	NM_015705.6(SGSM3):c.1708G>T (p.Ala570Ser)	SGSM3 (A503S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390625	NM_015705.6(SGSM3):c.1753G>A (p.Ala585Thr)	SGSM3 (A518T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 739989	NM_015705.6(SGSM3):c.1761C>T (p.His587=)	SGSM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2411193	NM_015705.6(SGSM3):c.1792C>T (p.Arg598Trp)	SGSM3 (R432W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161107	NM_015705.6(SGSM3):c.1793G>A (p.Arg598Gln)	SGSM3 (R531Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208341	NM_015705.6(SGSM3):c.1819G>A (p.Val607Met)	SGSM3 (V441M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161108	NM_015705.6(SGSM3):c.1828C>T (p.Arg610Cys)	SGSM3 (R547C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558925	NM_015705.6(SGSM3):c.1867G>A (p.Gly623Ser)	SGSM3 (G457S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317988	NM_015705.6(SGSM3):c.1900C>T (p.Arg634Trp)	SGSM3 (R468W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363604	NM_015705.6(SGSM3):c.1901G>A (p.Arg634Gln)	SGSM3 (R545Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717868	NM_015705.6(SGSM3):c.1903-5C>A	SGSM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3317989	NM_015705.6(SGSM3):c.1945C>G (p.Gln649Glu)	SGSM3 (Q560E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369381	NM_015705.6(SGSM3):c.1963C>T (p.Arg655Cys)	SGSM3 (R489C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161110	NM_015705.6(SGSM3):c.2039C>T (p.Thr680Ile)	SGSM3 (T591I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 712821	NM_015705.6(SGSM3):c.2040C>T (p.Thr680=)	SGSM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2241213	NM_015705.6(SGSM3):c.2135G>A (p.Ser712Asn)	SGSM3 (S623N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 726580	NM_015705.6(SGSM3):c.2201G>A (p.Arg734Gln)	SGSM3 (R645Q +7 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3247951	NC_000022.10:g.(?_39306081)_(41904073_?)dup	ACO2, ADSL +42 more	Duplication	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3062459	GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1	ADSL, CACNA1I +18 more	Copy number loss	not specified	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2664506	GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3	ACO2, ADSL +25 more	Copy number gain	Syndromic craniosynostosis	GLikely pathogenic
Select item 2426625	NC_000022.10:g.(?_40741451)_(40859231_?)dup	ADSL, MRTFA +1 more	Duplication	not provided	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1809336	GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3	ACO2, ADSL +29 more	Copy number gain	not provided	GUncertain significance
Select item 1808635	GRCh37/hg19 22q13.1-13.2(chr22:40131240-41556564)x1	ADSL, DNAJB7 +12 more	Copy number loss	not provided	GPathogenic
Select item 1408743	NC_000022.10:g.(?_39621728)_(41077932_?)dup	ADSL, ATF4 +19 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979606	GRCh37/hg19 22q13.1(chr22:40723778-40774437)x1	TNRC6B, SGSM3 +1 more	Copy number loss	not provided	GUncertain significance
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816227	GRCh37/hg19 22q13.1-13.2(chr22:40665986-41370008)x3	MRTFA, SGSM3 +8 more	Copy number gain	not provided	GUncertain significance

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