SGSM1[gene] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	LOC130067137, LOC130067138 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067246, LOC130067247 +556 more	Copy number gain	See cases	GPathogenic
Select item 2340934	NM_001098497.3(SGSM1):c.136T>G (p.Cys46Gly)	SGSM1 (C46G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358430	NM_001098497.3(SGSM1):c.157G>A (p.Val53Ile)	SGSM1 (V53I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161059	NM_001098497.3(SGSM1):c.166G>A (p.Gly56Arg)	SGSM1 (G56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161063	NM_001098497.3(SGSM1):c.178C>T (p.Arg60Trp)	SGSM1 (R60W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603933	NM_001098497.3(SGSM1):c.203A>G (p.Asn68Ser)	SGSM1 (N68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161069	NM_001098497.3(SGSM1):c.257A>G (p.Asp86Gly)	SGSM1 (D86G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161071	NM_001098497.3(SGSM1):c.306A>C (p.Arg102Ser)	SGSM1 (R102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161072	NM_001098497.3(SGSM1):c.319G>T (p.Gly107Cys)	SGSM1 (G107C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490261	NM_001098497.3(SGSM1):c.553A>G (p.Met185Val)	SGSM1 (M185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490262	NM_001098497.3(SGSM1):c.554T>A (p.Met185Lys)	SGSM1 (M185K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161073	NM_001098497.3(SGSM1):c.614G>A (p.Arg205His)	SGSM1 (R205H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386372	NM_001098497.3(SGSM1):c.650C>A (p.Thr217Asn)	SGSM1 (T217N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212031	NM_001098497.3(SGSM1):c.670A>G (p.Ile224Val)	SGSM1 (I224V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471638	NM_001098497.3(SGSM1):c.706C>T (p.Arg236Trp)	SGSM1 (R236W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262875	NM_001098497.3(SGSM1):c.724C>T (p.Arg242Cys)	SGSM1 (R242C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161074	NM_001098497.3(SGSM1):c.758G>A (p.Arg253His)	SGSM1 (R253H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558924	NM_001098497.3(SGSM1):c.802A>G (p.Arg268Gly)	SGSM1 (R268G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161075	NM_001098497.3(SGSM1):c.808G>A (p.Asp270Asn)	SGSM1 (D270N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457089	NM_001098497.3(SGSM1):c.928G>A (p.Val310Ile)	SGSM1 (V310I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161076	NM_001098497.3(SGSM1):c.938A>G (p.Asp313Gly)	SGSM1 (D313G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360107	NM_001098497.3(SGSM1):c.955C>T (p.Arg319Cys)	SGSM1 (R319C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771942	NM_001098497.3(SGSM1):c.1005C>T (p.Gly335=)	SGSM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3161056	NM_001098497.3(SGSM1):c.1069G>A (p.Gly357Arg)	SGSM1 (G357R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217469	NM_001098497.3(SGSM1):c.1145C>T (p.Ser382Phe)	SGSM1 (S382F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507813	NM_001098497.3(SGSM1):c.1181G>A (p.Arg394His)	SGSM1 (R394H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320798	NM_001098497.3(SGSM1):c.1181G>C (p.Arg394Pro)	SGSM1 (R394P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513428	NM_001098497.3(SGSM1):c.1198G>C (p.Gly400Arg)	SGSM1 (G400R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161058	NM_001098497.3(SGSM1):c.1268A>G (p.Tyr423Cys)	SGSM1 (Y423C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302542	NM_001098497.3(SGSM1):c.1292-2073G>A	SGSM1 (A461T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204757	NM_001098497.3(SGSM1):c.1292-2046A>G	SGSM1 (R470G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204758	NM_001098497.3(SGSM1):c.1292-2045G>T	SGSM1 (R470I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338317	NM_001098497.3(SGSM1):c.1292-2041G>C	SGSM1 (W471C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242960	NM_001098497.3(SGSM1):c.1292-2037A>G	SGSM1 (T473A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2323672	NM_001098497.3(SGSM1):c.1307T>C (p.Met436Thr)	SGSM1 (M491T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508261	NM_001098497.3(SGSM1):c.1312G>A (p.Val438Ile)	SGSM1 (V493I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371731	NM_001098497.3(SGSM1):c.1354C>T (p.Arg452Trp)	SGSM1 (R507W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209379	NM_001098497.3(SGSM1):c.1393G>A (p.Ala465Thr)	SGSM1 (A465T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653001	NM_001098497.3(SGSM1):c.1437C>T (p.Pro479=)	SGSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3161060	NM_001098497.3(SGSM1):c.1515C>A (p.His505Gln)	SGSM1 (H505Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161061	NM_001098497.3(SGSM1):c.1597G>A (p.Gly533Arg)	SGSM1 (G533R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161062	NM_001098497.3(SGSM1):c.1607C>T (p.Ala536Val)	SGSM1 (A536V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57499	GRCh38/hg38 22q11.23(chr22:24884631-25299561)x3	CRYBB2, CRYBB3 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2488214	NM_001098497.3(SGSM1):c.1744G>A (p.Gly582Arg)	SGSM1 (G582R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161064	NM_001098497.3(SGSM1):c.1763G>C (p.Arg588Thr)	SGSM1 (R643T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769160	NM_001098497.3(SGSM1):c.1821G>A (p.Leu607=)	SGSM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2407558	NM_001098497.3(SGSM1):c.1841G>A (p.Arg614Gln)	SGSM1 (R614Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618660	NM_001098497.3(SGSM1):c.1946G>A (p.Ser649Asn)	SGSM1 (S704N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161065	NM_001098497.3(SGSM1):c.1973C>T (p.Ser658Leu)	SGSM1 (S597L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269815	NM_001098497.3(SGSM1):c.1976G>T (p.Gly659Val)	SGSM1 (G714V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358133	NM_001098497.3(SGSM1):c.1978C>T (p.Arg660Cys)	SGSM1 (R660C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161066	NM_001098497.3(SGSM1):c.2017A>G (p.Thr673Ala)	SGSM1 (T667A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161067	NM_001098497.3(SGSM1):c.2023G>A (p.Val675Met)	SGSM1 (V669M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306632	NM_001098497.3(SGSM1):c.2038G>A (p.Asp680Asn)	SGSM1 (D735N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513157	NM_001098497.3(SGSM1):c.2110G>A (p.Val704Met)	SGSM1 (V704M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492765	NM_001098497.3(SGSM1):c.2120C>T (p.Thr707Ile)	SGSM1 (T701I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161068	NM_001098497.3(SGSM1):c.2221G>A (p.Ala741Thr)	SGSM1 (A741T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519300	NM_001098497.3(SGSM1):c.2227C>T (p.Arg743Trp)	SGSM1 (R743W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368887	NM_001098497.3(SGSM1):c.2228G>A (p.Arg743Gln)	SGSM1 (R798Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206273	NM_001098497.3(SGSM1):c.2240C>A (p.Thr747Lys)	SGSM1 (T747K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316113	NM_001098497.3(SGSM1):c.2266G>A (p.Val756Met)	SGSM1 (V750M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289731	NM_001098497.3(SGSM1):c.2488A>G (p.Ser830Gly)	SGSM1 (S824G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511433	NM_001098497.3(SGSM1):c.2497A>G (p.Asn833Asp)	SGSM1 (N772D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471431	NM_001098497.3(SGSM1):c.2599G>A (p.Val867Ile)	SGSM1 (V806I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462433	NM_001098497.3(SGSM1):c.2647C>T (p.Arg883Cys)	SGSM1 (R883C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529319	NM_001098497.3(SGSM1):c.2864A>T (p.Asn955Ile)	SGSM1 (N955I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791486	NM_001098497.3(SGSM1):c.2880C>T (p.His960=)	SGSM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2329128	NM_001098497.3(SGSM1):c.2899C>T (p.His967Tyr)	SGSM1 (H967Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562481	NM_001098497.3(SGSM1):c.3043G>A (p.Val1015Ile)	SGSM1 (V1015I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306708	NM_001098497.3(SGSM1):c.3136C>T (p.Arg1046Cys)	SGSM1 (R1046C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486109	NM_001098497.3(SGSM1):c.3199G>T (p.Ala1067Ser)	SGSM1 (A1122S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257340	NM_001098497.3(SGSM1):c.3215C>T (p.Thr1072Ile)	SGSM1 (T1127I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684934	GRCh37/hg19 22q11.23(chr22:25020048-25368329)x3	GGT1, LHFPL7 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808994	GRCh37/hg19 22q11.23(chr22:25317459-25746029)x1	CRYBB2, CRYBB3 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1808423	GRCh37/hg19 22q11.23(chr22:24402263-25447775)x3	ADORA2A, CABIN1 +12 more	Copy number gain	not provided	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 981206	GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3	RTN4R, SCARF2 +124 more	Copy number gain	Cat eye syndrome +1 more	GPathogenic
Select item 816492	GRCh37/hg19 22q11.23-12.1(chr22:24311474-26075188)x3	GGT1, DDT +19 more	Copy number gain	See cases	GUncertain significance
Select item 816197	GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3	HIC2, HIRA +133 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	A4GALT, ACO2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	C22orf15, C22orf23 +435 more	Copy number gain	See cases	GPathogenic
Select item 441055	GRCh37/hg19 22q11.23-12.1(chr22:24652837-25970705)x3	ADORA2A, CRYBB2 +12 more	Copy number gain	not provided	Gnot provided
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	SLC5A1, SLC5A4 +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic
Select item 221770	GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1	DGCR6, GSC2 +105 more	Copy number loss	Premature ovarian failure	GBenign

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Items: 94