ClinVar for MedGen (Select 162881) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 115

<< First< Prev

Page of 2

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26270871.	NM_030665.4(RAI1):c.2468G>A (p.Gly823Asp) GRCh37: Chr17:17698730 GRCh38: Chr17:17795416	RAI1	G823D	Smith-Magenis syndrome	Uncertain significance (Oct 30, 2023)	no assertion criteria provided
Select item 25801592.	NM_030665.4(RAI1):c.629C>G (p.Pro210Arg) GRCh37: Chr17:17696891 GRCh38: Chr17:17793577	RAI1	P210R	Smith-Magenis syndrome	Likely pathogenic (Sep 20, 2023)	criteria provided, single submitter
Select item 25784453.	NM_030665.4(RAI1):c.2903C>A (p.Ser968Ter) GRCh37: Chr17:17699165 GRCh38: Chr17:17795851	RAI1	S968*	Smith-Magenis syndrome	Likely pathogenic (Aug 21, 2023)	criteria provided, single submitter
Select item 25725744.	NM_030665.4(RAI1):c.1677del (p.Ser560fs) GRCh37: Chr17:17697938 GRCh38: Chr17:17794624	RAI1	S560fs	Smith-Magenis syndrome	Likely pathogenic	criteria provided, single submitter
Select item 25052685.	NM_030665.4(RAI1):c.219_226del (p.Ala74fs) GRCh37: Chr17:17696481-17696488 GRCh38: Chr17:17793167-17793174	RAI1	A74fs	Smith-Magenis syndrome	Pathogenic (Feb 6, 2023)	criteria provided, single submitter
Select item 25016746.	NM_030665.4(RAI1):c.2329del (p.Asp777fs) GRCh37: Chr17:17698591 GRCh38: Chr17:17795277	RAI1	D777fs	Smith-Magenis syndrome	Pathogenic (May 11, 2023)	criteria provided, single submitter
Select item 24353627.	NM_030665.4(RAI1):c.5407C>G (p.Arg1803Gly) GRCh37: Chr17:17701669 GRCh38: Chr17:17798355	RAI1	R1803G	Inborn genetic diseases, Smith-Magenis syndrome	Uncertain significance (Mar 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24353618.	NM_030665.4(RAI1):c.274C>A (p.Gln92Lys) GRCh37: Chr17:17696536 GRCh38: Chr17:17793222	RAI1	Q92K	Smith-Magenis syndrome	Uncertain significance (Jan 8, 2019)	criteria provided, single submitter
Select item 24353609.	NM_030665.4(RAI1):c.4462A>G (p.Ser1488Gly) GRCh37: Chr17:17700724 GRCh38: Chr17:17797410	RAI1	S1488G	Smith-Magenis syndrome	Uncertain significance (Nov 22, 2021)	criteria provided, single submitter
Select item 243535910.	NM_030665.4(RAI1):c.1618G>T (p.Ala540Ser) GRCh37: Chr17:17697880 GRCh38: Chr17:17794566	RAI1	A540S	Smith-Magenis syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 243535811.	NM_030665.4(RAI1):c.1777G>T (p.Asp593Tyr) GRCh37: Chr17:17698039 GRCh38: Chr17:17794725	RAI1	D593Y	Smith-Magenis syndrome, not provided	Uncertain significance (May 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 243195012.	NM_030665.4(RAI1):c.282G>T (p.Arg94Ser) GRCh37: Chr17:17696544 GRCh38: Chr17:17793230	RAI1	R94S	Smith-Magenis syndrome	Uncertain significance (Oct 28, 2022)	criteria provided, single submitter
Select item 243002213.	NM_030665.4(RAI1):c.3293_3297del (p.Val1098fs) GRCh37: Chr17:17699552-17699556 GRCh38: Chr17:17796238-17796242	RAI1	V1098fs	Smith-Magenis syndrome	Likely pathogenic (Jan 24, 2022)	criteria provided, single submitter
Select item 223082314.	NM_030665.4(RAI1):c.2763_2764del (p.Glu923fs) GRCh37: Chr17:17699025-17699026 GRCh38: Chr17:17795711-17795712	RAI1	E923fs	Smith-Magenis syndrome, Inborn genetic diseases	Pathogenic/Likely pathogenic (Aug 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 204596015.	NM_030665.4(RAI1):c.3407C>T (p.Thr1136Met) GRCh37: Chr17:17699669 GRCh38: Chr17:17796355	RAI1	T1136M	not provided, RAI1-related condition	Uncertain significance (Dec 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180600416.	NM_030665.4(RAI1):c.4415C>G (p.Ala1472Gly) GRCh37: Chr17:17700677 GRCh38: Chr17:17797363	RAI1	A1472G	Smith-Magenis syndrome	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 180589317.	NM_030665.4(RAI1):c.4317dup (p.Thr1440fs) GRCh37: Chr17:17700573-17700574 GRCh38: Chr17:17797259-17797260	RAI1	T1440fs	Smith-Magenis syndrome	Pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 180490018.	NM_030665.4(RAI1):c.1658T>C (p.Val553Ala) GRCh37: Chr17:17697920 GRCh38: Chr17:17794606	RAI1	V553A	Smith-Magenis syndrome	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 180219119.	NM_030665.4(RAI1):c.848_851del (p.Gln283fs) GRCh37: Chr17:17697110-17697113 GRCh38: Chr17:17793796-17793799	RAI1	Q283fs	Smith-Magenis syndrome	Pathogenic (Dec 8, 2022)	criteria provided, single submitter
Select item 170999520.	NM_030665.4(RAI1):c.1785dup (p.Arg596fs) GRCh37: Chr17:17698046-17698047 GRCh38: Chr17:17794732-17794733	RAI1	R596fs	Smith-Magenis syndrome	Pathogenic (May 12, 2022)	criteria provided, single submitter
Select item 170538121.	NM_030665.4(RAI1):c.269del (p.Gly90fs) GRCh37: Chr17:17696530 GRCh38: Chr17:17793216	RAI1	G90fs	Smith-Magenis syndrome	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170521922.	NM_030665.4(RAI1):c.5223del (p.Gly1742fs) GRCh37: Chr17:17701483 GRCh38: Chr17:17798169	RAI1	G1742fs	Smith-Magenis syndrome	Likely pathogenic (Aug 26, 2022)	criteria provided, single submitter
Select item 170514123.	NM_030665.4(RAI1):c.3534_3547del (p.Asp1179fs) GRCh37: Chr17:17699794-17699807 GRCh38: Chr17:17796480-17796493	RAI1	D1179fs	Smith-Magenis syndrome	Likely pathogenic (Aug 18, 2022)	criteria provided, single submitter
Select item 170356624.	GRCh37/hg19 17p11.2(chr17:17151140-20187953) GRCh37: Chr17:17151140-20187953	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MYO15A, NT5M, PEMT, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2		Smith-Magenis syndrome	Pathogenic	no assertion criteria provided
Select item 170356525.	GRCh37/hg19 17p11.2(chr17:16651292-20286898) GRCh37: Chr17:16651292-20286898	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2		Smith-Magenis syndrome	Pathogenic	no assertion criteria provided
Select item 169644026.	NM_030665.4(RAI1):c.5225G>T (p.Gly1742Val) GRCh37: Chr17:17701487 GRCh38: Chr17:17798173	RAI1	G1742V	Smith-Magenis syndrome	Uncertain significance (Jul 30, 2021)	criteria provided, single submitter
Select item 168542027.	NM_030665.4(RAI1):c.5709+5G>C GRCh37: Chr17:17712758 GRCh38: Chr17:17809444	RAI1		Smith-Magenis syndrome	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 167939428.	NM_030665.4(RAI1):c.13C>T (p.Arg5Ter) GRCh37: Chr17:17696275 GRCh38: Chr17:17792961	RAI1	R5*	Smith-Magenis syndrome	Likely pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 167935529.	NM_030665.4(RAI1):c.5444_5448del (p.Pro1815fs) GRCh37: Chr17:17701704-17701708 GRCh38: Chr17:17798390-17798394	RAI1	P1815fs	Smith-Magenis syndrome	Likely pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 159397530.	NM_030665.4(RAI1):c.4911G>A (p.Ser1637=) GRCh37: Chr17:17701173 GRCh38: Chr17:17797859	RAI1		Smith-Magenis syndrome, not provided	Likely benign (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156852331.	NM_030665.4(RAI1):c.817C>T (p.Arg273Cys) GRCh37: Chr17:17697079 GRCh38: Chr17:17793765	RAI1	R273C	Smith-Magenis syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 14, 2022)	criteria provided, conflicting interpretations
Select item 147448532.	NM_030665.4(RAI1):c.1882G>A (p.Glu628Lys) GRCh37: Chr17:17698144 GRCh38: Chr17:17794830	RAI1	E628K	not provided, Smith-Magenis syndrome, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Sep 22, 2022)	criteria provided, conflicting interpretations
Select item 146542633.	NM_030665.4(RAI1):c.3401C>T (p.Pro1134Leu) GRCh37: Chr17:17699663 GRCh38: Chr17:17796349	RAI1	P1134L	not provided, Smith-Magenis syndrome	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 137660034.	NM_030665.4(RAI1):c.454C>A (p.Pro152Thr) GRCh37: Chr17:17696716 GRCh38: Chr17:17793402	RAI1	P152T	Smith-Magenis syndrome, not provided	Uncertain significance (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137496135.	NM_030665.4(RAI1):c.3660T>A (p.His1220Gln) GRCh37: Chr17:17699922 GRCh38: Chr17:17796608	RAI1	H1220Q	not provided, Smith-Magenis syndrome	Uncertain significance (May 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134260536.	NM_030665.4(RAI1):c.239G>A (p.Arg80Gln) GRCh37: Chr17:17696501 GRCh38: Chr17:17793187	RAI1	R80Q	Inborn genetic diseases, not provided, Smith-Magenis syndrome	Conflicting interpretations of pathogenicity (Sep 4, 2021)	criteria provided, conflicting interpretations
Select item 134257437.	NM_030665.4(RAI1):c.514C>T (p.His172Tyr) GRCh37: Chr17:17696776 GRCh38: Chr17:17793462	RAI1	H172Y	Smith-Magenis syndrome, Inborn genetic diseases	Uncertain significance (Jul 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 134245638.	NM_030665.4(RAI1):c.4114G>A (p.Gly1372Arg) GRCh37: Chr17:17700376 GRCh38: Chr17:17797062	RAI1	G1372R	Smith-Magenis syndrome	Uncertain significance (Apr 16, 2021)	criteria provided, single submitter
Select item 134238739.	NM_030665.4(RAI1):c.3168T>G (p.Cys1056Trp) GRCh37: Chr17:17699430 GRCh38: Chr17:17796116	RAI1	C1056W	Smith-Magenis syndrome	Uncertain significance (Mar 5, 2021)	criteria provided, single submitter
Select item 133403340.	NM_030665.4(RAI1):c.5698C>G (p.Pro1900Ala) GRCh37: Chr17:17712742 GRCh38: Chr17:17809428	RAI1	P1900A	Smith-Magenis syndrome, not provided	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133023941.	NM_030665.4(RAI1):c.4271del (p.Phe1424fs) GRCh37: Chr17:17700531 GRCh38: Chr17:17797217	RAI1	F1424fs	Smith-Magenis syndrome	Pathogenic (Oct 8, 2021)	criteria provided, single submitter
Select item 132123242.	NM_030665.4(RAI1):c.3272C>A (p.Ala1091Asp) GRCh37: Chr17:17699534 GRCh38: Chr17:17796220	RAI1	A1091D	Smith-Magenis syndrome	Uncertain significance (Oct 1, 2021)	criteria provided, single submitter
Select item 132123143.	NM_030665.4(RAI1):c.-148-13952_-148-10583del GRCh37: Chr17:17613390-17616759 GRCh38: Chr17:17710076-17713445	LOC112529899, LOC130060389, RAI1		Smith-Magenis syndrome	Pathogenic (Oct 1, 2021)	criteria provided, single submitter
Select item 118496544.	NM_030665.4(RAI1):c.868C>T (p.Gln290Ter) GRCh37: Chr17:17697130 GRCh38: Chr17:17793816	RAI1	Q290*	Smith-Magenis syndrome	Pathogenic (Dec 7, 2022)	criteria provided, single submitter
Select item 109870745.	NM_030665.4(RAI1):c.226G>A (p.Asp76Asn) GRCh37: Chr17:17696488 GRCh38: Chr17:17793174	RAI1	D76N	not provided, Smith-Magenis syndrome	Uncertain significance (Mar 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109858146.	NM_030665.4(RAI1):c.458C>T (p.Pro153Leu) GRCh37: Chr17:17696720 GRCh38: Chr17:17793406	RAI1	P153L	not provided, Smith-Magenis syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109828947.	NM_030665.4(RAI1):c.4525del (p.Gln1509fs) GRCh37: Chr17:17700785 GRCh38: Chr17:17797471	RAI1	Q1509fs	Smith-Magenis syndrome	Pathogenic (May 13, 2021)	criteria provided, single submitter
Select item 104793048.	NM_030665.4(RAI1):c.3179_3180del (p.Leu1060fs) GRCh37: Chr17:17699437-17699438 GRCh38: Chr17:17796123-17796124	RAI1	L1060fs	Smith-Magenis syndrome	Pathogenic (Mar 17, 2021)	no assertion criteria provided
Select item 104786349.	GRCh37/hg19 17p11.2(chr17:17145361-20137943) GRCh37: Chr17:17145361-20137943	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MYO15A, NT5M, PEMT, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2		Smith-Magenis syndrome	Pathogenic (Mar 15, 2021)	criteria provided, single submitter
Select item 103223450.	NM_030665.4(RAI1):c.4849C>T (p.Pro1617Ser) GRCh37: Chr17:17701111 GRCh38: Chr17:17797797	RAI1	P1617S	not provided, Smith-Magenis syndrome, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Apr 16, 2022)	criteria provided, conflicting interpretations
Select item 103223351.	NM_030665.4(RAI1):c.2918C>G (p.Ala973Gly) GRCh37: Chr17:17699180 GRCh38: Chr17:17795866	RAI1	A973G	Smith-Magenis syndrome	Uncertain significance (Dec 21, 2018)	criteria provided, single submitter
Select item 102889952.	NM_030665.4(RAI1):c.4967C>G (p.Ser1656Cys) GRCh37: Chr17:17701229 GRCh38: Chr17:17797915	RAI1	S1656C	Smith-Magenis syndrome	Uncertain significance (Apr 24, 2020)	criteria provided, single submitter
Select item 102889853.	NM_030665.4(RAI1):c.424G>T (p.Asp142Tyr) GRCh37: Chr17:17696686 GRCh38: Chr17:17793372	RAI1	D142Y	Smith-Magenis syndrome	Uncertain significance (Jul 24, 2020)	criteria provided, single submitter
Select item 102889754.	NM_030665.4(RAI1):c.3883C>T (p.Pro1295Ser) GRCh37: Chr17:17700145 GRCh38: Chr17:17796831	RAI1	P1295S	RAI1-related condition, Smith-Magenis syndrome, not provided	Conflicting interpretations of pathogenicity (Feb 15, 2023)	criteria provided, conflicting interpretations
Select item 99694055.	NM_030665.4(RAI1):c.3649C>T (p.Arg1217Trp) GRCh37: Chr17:17699911 GRCh38: Chr17:17796597	RAI1	R1217W	not provided, Smith-Magenis syndrome	Uncertain significance (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98294856.	NM_030665.4(RAI1):c.707A>G (p.Tyr236Cys) GRCh37: Chr17:17696969 GRCh38: Chr17:17793655	RAI1	Y236C	Smith-Magenis syndrome	Likely benign (Jan 1, 2019)	criteria provided, single submitter
Select item 98283757.	NM_030665.4(RAI1):c.4051G>T (p.Ala1351Ser) GRCh37: Chr17:17700313 GRCh38: Chr17:17796999	RAI1	A1351S	Smith-Magenis syndrome, not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Nov 17, 2022)	criteria provided, conflicting interpretations
Select item 97885258.	NM_030665.4(RAI1):c.1958_1959del (p.Val653fs) GRCh37: Chr17:17698218-17698219 GRCh38: Chr17:17794904-17794905	RAI1	V653fs	Intellectual disability, Smith-Magenis syndrome	Likely pathogenic (Aug 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 97640959.	NM_030665.4(RAI1):c.859C>T (p.Gln287Ter) GRCh37: Chr17:17697121 GRCh38: Chr17:17793807	RAI1	Q287*	Smith-Magenis syndrome	Likely pathogenic (Nov 11, 2016)	criteria provided, single submitter
Select item 97620860.	NM_030665.4(RAI1):c.2594T>C (p.Leu865Pro) GRCh37: Chr17:17698856 GRCh38: Chr17:17795542	RAI1	L865P	not provided, Smith-Magenis syndrome	Conflicting interpretations of pathogenicity (Mar 2, 2022)	criteria provided, conflicting interpretations
Select item 97325461.	NM_030665.4(RAI1):c.4681C>T (p.Arg1561Ter) GRCh37: Chr17:17700943 GRCh38: Chr17:17797629	RAI1	R1561*	Smith-Magenis syndrome, RAI1-related condition	Pathogenic/Likely pathogenic (May 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 97293462.	NM_030665.4(RAI1):c.3478C>T (p.Arg1160Trp) GRCh37: Chr17:17699740 GRCh38: Chr17:17796426	RAI1	R1160W	not provided	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 93091163.	NM_030665.4(RAI1):c.1888C>G (p.Pro630Ala) GRCh37: Chr17:17698150 GRCh38: Chr17:17794836	RAI1	P630A	Smith-Magenis syndrome	Uncertain significance (Jan 27, 2020)	criteria provided, single submitter
Select item 93063064.	NM_030665.4(RAI1):c.3760A>G (p.Asn1254Asp) GRCh37: Chr17:17700022 GRCh38: Chr17:17796708	RAI1	N1254D	Smith-Magenis syndrome	Likely benign (Oct 10, 2018)	criteria provided, single submitter
Select item 93043765.	NM_030665.4(RAI1):c.619A>T (p.Thr207Ser) GRCh37: Chr17:17696881 GRCh38: Chr17:17793567	RAI1	T207S	Smith-Magenis syndrome	Uncertain significance (Jan 1, 2016)	criteria provided, single submitter
Select item 80766966.	NM_030665.4(RAI1):c.1069_1070insC (p.Ser357fs) GRCh37: Chr17:17697331-17697332 GRCh38: Chr17:17794017-17794018	RAI1	S357fs	Smith-Magenis syndrome	Pathogenic (Sep 18, 2019)	criteria provided, single submitter
Select item 80332967.	NM_030665.4(RAI1):c.4814del (p.Asp1605fs) GRCh37: Chr17:17701076 GRCh38: Chr17:17797762	RAI1	D1605fs	Smith-Magenis syndrome	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80091068.	NM_030665.4(RAI1):c.2238G>A (p.Trp746Ter) GRCh37: Chr17:17698500 GRCh38: Chr17:17795186	RAI1	W746*	Smith-Magenis syndrome	Likely pathogenic (Sep 26, 2019)	no assertion criteria provided
Select item 63462969.	NM_030665.4(RAI1):c.1787G>A (p.Arg596Gln) GRCh37: Chr17:17698049 GRCh38: Chr17:17794735	RAI1	R596Q	Smith-Magenis syndrome, RAI1-related condition, not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jan 16, 2023)	criteria provided, conflicting interpretations
Select item 62573070.	GRCh37/hg19 17p11.2(chr17:16842991-20217316) GRCh37: Chr17:16842991-20217316	AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2		Smith-Magenis syndrome	Pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 62553071.	NM_030665.4(RAI1):c.3192_3195del (p.Glu1065fs) GRCh37: Chr17:17699450-17699453 GRCh38: Chr17:17796136-17796139	RAI1	E1065fs	Smith-Magenis syndrome	Pathogenic (Sep 24, 2018)	no assertion criteria provided
Select item 62003972.	NM_004595.5(SMS):c.581T>G (p.Val194Gly) GRCh37: ChrX:21996153 GRCh38: ChrX:21978035	SMS	V194G, V141G	Smith-Magenis syndrome	Likely pathogenic (Dec 14, 2015)	criteria provided, single submitter
Select item 59234473.	NM_030665.4(RAI1):c.5528T>C (p.Phe1843Ser) GRCh37: Chr17:17701790 GRCh38: Chr17:17798476	RAI1	F1843S	Inborn genetic diseases, not provided, RAI1-related condition, Smith-Magenis syndrome	Conflicting interpretations of pathogenicity (Mar 9, 2023)	criteria provided, conflicting interpretations
Select item 58921774.	NM_030665.4(RAI1):c.3731GCA[3] (p.Ser1247_Ser1249del) GRCh37: Chr17:17699993-17700001 GRCh38: Chr17:17796679-17796687	RAI1		Inborn genetic diseases, not provided, Smith-Magenis syndrome	Benign/Likely benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58921575.	NM_030665.4(RAI1):c.4317G>T (p.Gly1439=) GRCh37: Chr17:17700579 GRCh38: Chr17:17797265	RAI1		Inborn genetic diseases, not provided, Smith-Magenis syndrome	Benign/Likely benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58808276.	NM_030665.4(RAI1):c.1894C>T (p.Leu632=) GRCh37: Chr17:17698156 GRCh38: Chr17:17794842	RAI1		Inborn genetic diseases, Smith-Magenis syndrome, not provided	Benign/Likely benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58778377.	NM_030665.4(RAI1):c.840del (p.Gln280fs) GRCh37: Chr17:17697102 GRCh38: Chr17:17793788	RAI1	Q280fs	Inborn genetic diseases, Smith-Magenis syndrome, not provided	Benign (Jan 22, 2020)	criteria provided, multiple submitters, no conflicts
Select item 58639878.	NM_030665.4(RAI1):c.3589G>C (p.Gly1197Arg) GRCh37: Chr17:17699851 GRCh38: Chr17:17796537	RAI1	G1197R	RAI1-related condition, Inborn genetic diseases, Smith-Magenis syndrome, not provided	Conflicting interpretations of pathogenicity (May 24, 2023)	criteria provided, conflicting interpretations
Select item 52285379.	NM_030665.4(RAI1):c.2472dup (p.Leu825fs) GRCh37: Chr17:17698731-17698732 GRCh38: Chr17:17795417-17795418	RAI1	L825fs	Smith-Magenis syndrome	Pathogenic (Jan 2, 2018)	criteria provided, single submitter
Select item 48844780.	NM_030665.4(RAI1):c.4673dup (p.Arg1559fs) GRCh37: Chr17:17700933-17700934 GRCh38: Chr17:17797619-17797620	RAI1	R1559fs	Smith-Magenis syndrome	Pathogenic (Jun 30, 2017)	no assertion criteria provided
Select item 43650481.	NM_030665.4(RAI1):c.5653G>A (p.Asp1885Asn) GRCh37: Chr17:17707157 GRCh38: Chr17:17803843	RAI1	D1885N	Inborn genetic diseases, not provided, not specified, Smith-Magenis syndrome	Conflicting interpretations of pathogenicity (Oct 8, 2022)	criteria provided, conflicting interpretations
Select item 43650082.	NM_030665.4(RAI1):c.3895G>A (p.Asp1299Asn) GRCh37: Chr17:17700157 GRCh38: Chr17:17796843	RAI1	D1299N	not specified, not provided, RAI1-related condition, Smith-Magenis syndrome	Uncertain significance (Aug 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 43649883.	NM_030665.4(RAI1):c.3146C>T (p.Ser1049Leu) GRCh37: Chr17:17699408 GRCh38: Chr17:17796094	RAI1	S1049L	not specified, not provided, Smith-Magenis syndrome	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43649584.	NM_030665.4(RAI1):c.1471G>A (p.Glu491Lys) GRCh37: Chr17:17697733 GRCh38: Chr17:17794419	RAI1	E491K	not specified, not provided, Smith-Magenis syndrome	Uncertain significance (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 43649185.	NM_030665.4(RAI1):c.109G>A (p.Gly37Arg) GRCh37: Chr17:17696371 GRCh38: Chr17:17793057	RAI1	G37R	Inborn genetic diseases, Smith-Magenis syndrome, not specified, not provided	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 43111886.	NM_030665.4(RAI1):c.2966_2969del (p.Lys989fs) GRCh37: Chr17:17699223-17699226 GRCh38: Chr17:17795909-17795912	RAI1	K989fs	not provided, Inborn genetic diseases, Smith-Magenis syndrome	Pathogenic (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40336287.	NM_030665.4(RAI1):c.840_843del (p.Gln280fs) GRCh37: Chr17:17697102-17697105 GRCh38: Chr17:17793788-17793791	RAI1	Q280fs	Inborn genetic diseases, not specified, Smith-Magenis syndrome, not provided	Benign (Oct 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37526588.	NM_030665.4(RAI1):c.1748G>A (p.Ser583Asn) GRCh37: Chr17:17698010 GRCh38: Chr17:17794696	RAI1	S583N	Smith-Magenis syndrome, Inborn genetic diseases	Uncertain significance (Apr 11, 2019)	criteria provided, multiple submitters, no conflicts
Select item 26193689.	NM_030665.4(RAI1):c.4295C>T (p.Pro1432Leu) GRCh37: Chr17:17700557 GRCh38: Chr17:17797243	RAI1	P1432L	not provided, Inborn genetic diseases, not specified, Smith-Magenis syndrome	Benign/Likely benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26193590.	NM_030665.4(RAI1):c.2907C>T (p.Asp969=) GRCh37: Chr17:17699169 GRCh38: Chr17:17795855	RAI1		not provided, not specified, Smith-Magenis syndrome, Inborn genetic diseases	Benign/Likely benign (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24306191.	Single allele GRCh37: Chr17:17711738-17748468	MIR33B, RAI1, SREBF1, TOM1L2		Smith-Magenis syndrome	Pathogenic (Nov 12, 2015)	criteria provided, single submitter
Select item 21200992.	NM_030665.4(RAI1):c.3590G>T (p.Gly1197Val) GRCh37: Chr17:17699852 GRCh38: Chr17:17796538	RAI1	G1197V	not specified, not provided, Smith-Magenis syndrome	Uncertain significance (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19655193.	NM_030665.4(RAI1):c.4963G>A (p.Gly1655Ser) GRCh37: Chr17:17701225 GRCh38: Chr17:17797911	RAI1	G1655S	not provided, Smith-Magenis syndrome	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18338694.	chr17:g.(AC027266_AL353996)_(AC015726-AC087393)del			Smith-Magenis syndrome	Pathogenic (Jun 1, 2014)	no assertion criteria provided
Select item 16756295.	NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln) GRCh37: Chr17:17699912 GRCh38: Chr17:17796598	RAI1	R1217Q	Inborn genetic diseases, not provided, not specified, Smith-Magenis syndrome	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 14319796.	NM_030665.4(RAI1):c.2273G>A (p.Trp758Ter) GRCh37: Chr17:17698535 GRCh38: Chr17:17795221	RAI1	W758*	Smith-Magenis syndrome	Pathogenic	no assertion criteria provided
Select item 9619697.	NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) GRCh37: Chr17:17696987 GRCh38: Chr17:17793673	RAI1	P242L	Inborn genetic diseases, not specified, not provided, Smith-Magenis syndrome	Benign/Likely benign (Sep 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9619598.	NM_030665.4(RAI1):c.5601T>C (p.Ile1867=) GRCh37: Chr17:17707105 GRCh38: Chr17:17803791	RAI1		Inborn genetic diseases, not specified, not provided, Smith-Magenis syndrome	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9619499.	NM_030665.4(RAI1):c.493C>A (p.Pro165Thr) GRCh37: Chr17:17696755 GRCh38: Chr17:17793441	RAI1	P165T	Inborn genetic diseases, not specified, Smith-Magenis syndrome, not provided	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96192100.	NM_030665.4(RAI1):c.4530C>T (p.Pro1510=) GRCh37: Chr17:17700792 GRCh38: Chr17:17797478	RAI1		Inborn genetic diseases, not specified, not provided, Smith-Magenis syndrome	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts

<< First< Prev

Page of 2