ClinVar for MedGen (Select 395592) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 185

<< First< Prev

Page of 2

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26273971.	NM_014780.5(CUL7):c.1838del (p.Pro613fs) GRCh37: Chr6:43016295 GRCh38: Chr6:43048557	CUL7	P613fs, P645fs	3M syndrome 1	Likely pathogenic	criteria provided, single submitter
Select item 25851062.	NM_014780.5(CUL7):c.1563_1569+5del GRCh37: Chr6:43017696-43017707 GRCh38: Chr6:43049958-43049969	CUL7		3M syndrome 1	Likely pathogenic	criteria provided, single submitter
Select item 25810583.	NM_014780.5(CUL7):c.4651C>T (p.Gln1551Ter) GRCh37: Chr6:43006127 GRCh38: Chr6:43038389	CUL7	Q1550, Q1551, Q1555, Q1583	3M syndrome 1	Pathogenic	criteria provided, single submitter
Select item 25723784.	NM_014780.5(CUL7):c.3847T>C (p.Trp1283Arg) GRCh37: Chr6:43008444 GRCh38: Chr6:43040706	CUL7	W1282R, W1283R, W1315R	3M syndrome 1	Uncertain significance	criteria provided, single submitter
Select item 25722665.	NM_014780.5(CUL7):c.3368_3369del (p.Arg1123fs) GRCh37: Chr6:43010905-43010906 GRCh38: Chr6:43043167-43043168	CUL7	R1122fs, R1123fs, R1155fs	3M syndrome 1	Likely pathogenic (Jun 8, 2023)	criteria provided, single submitter
Select item 24406306.	NM_014780.5(CUL7):c.1569+76G>C GRCh37: Chr6:43017625 GRCh38: Chr6:43049887	CUL7		3M syndrome 1	Uncertain significance (Oct 28, 2019)	criteria provided, single submitter
Select item 24406297.	NM_014780.5(CUL7):c.5029_5030del (p.Gln1677fs) GRCh37: Chr6:43005493-43005494 GRCh38: Chr6:43037755-43037756	CUL7	Q1676fs, Q1677fs, Q1681fs, Q1709fs	3M syndrome 1	Uncertain significance (Sep 13, 2019)	criteria provided, single submitter
Select item 17055618.	NM_014780.5(CUL7):c.2862+1G>A GRCh37: Chr6:43013324 GRCh38: Chr6:43045586	CUL7		3M syndrome 1	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 17054989.	NM_014780.5(CUL7):c.2150_2151insA (p.Asn719fs) GRCh37: Chr6:43015904-43015905 GRCh38: Chr6:43048166-43048167	CUL7	N719fs, N751fs	3M syndrome 1	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170546210.	NM_014780.5(CUL7):c.2761_2765del (p.Asn921fs) GRCh37: Chr6:43013725-43013729 GRCh38: Chr6:43045987-43045991	CUL7	N921fs, N953fs	3M syndrome 1	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 169127611.	NM_014780.5(CUL7):c.3247del (p.Gln1083fs) GRCh37: Chr6:43011294 GRCh38: Chr6:43043556	CUL7	Q1083fs, Q1115fs	3M syndrome 1	Likely pathogenic (Feb 10, 2022)	criteria provided, single submitter
Select item 168744812.	NM_014780.5(CUL7):c.4297C>T (p.Gln1433Ter) GRCh37: Chr6:43006723 GRCh38: Chr6:43038985	CUL7	Q1432, Q1433, Q1465*	3M syndrome 1	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168529213.	NM_014780.5(CUL7):c.2862+2T>G GRCh37: Chr6:43013323 GRCh38: Chr6:43045585	CUL7		3M syndrome 1	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168347914.	NM_014780.5(CUL7):c.3902C>G (p.Pro1301Arg) GRCh37: Chr6:43008389 GRCh38: Chr6:43040651	CUL7	P1300R, P1301R, P1333R	3M syndrome 1	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 168347815.	NM_014780.5(CUL7):c.3061G>A (p.Glu1021Lys) GRCh37: Chr6:43012601 GRCh38: Chr6:43044863	CUL7	E1021K, E1053K	3M syndrome 1	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 168347716.	NM_014780.5(CUL7):c.3295del (p.Leu1099fs) GRCh37: Chr6:43011246 GRCh38: Chr6:43043508	CUL7	L1099fs, L1131fs	3M syndrome 1	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 149866917.	NM_014780.5(CUL7):c.2230G>A (p.Val744Met) GRCh37: Chr6:43014785 GRCh38: Chr6:43047047	CUL7	V776M, V744M	not provided, 3M syndrome 1	Uncertain significance (Mar 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133898118.	NM_014780.5(CUL7):c.3895C>T (p.Arg1299Cys) GRCh37: Chr6:43008396 GRCh38: Chr6:43040658	CUL7	R1298C, R1299C, R1331C	3M syndrome 1	Uncertain significance	criteria provided, single submitter
Select item 133898019.	NM_014780.5(CUL7):c.4848C>A (p.Cys1616Ter) GRCh37: Chr6:43005675 GRCh38: Chr6:43037937	CUL7	C1615, C1616, C1620, C1648	3M syndrome 1	Uncertain significance	criteria provided, single submitter
Select item 126435220.	NM_014780.5(CUL7):c.2064-1G>A GRCh37: Chr6:43015992 GRCh38: Chr6:43048254	CUL7		3M syndrome 1	Pathogenic (Sep 17, 2021)	no assertion criteria provided
Select item 105958521.	NM_014780.5(CUL7):c.4074A>T (p.Glu1358Asp) GRCh37: Chr6:43008114 GRCh38: Chr6:43040376	CUL7	E1357D, E1358D, E1390D	not provided, 3M syndrome 1	Uncertain significance (Mar 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102920722.	NM_014780.5(CUL7):c.580+48C>T GRCh37: Chr6:43019899 GRCh38: Chr6:43052161	CUL7	R210W	3M syndrome 1	Uncertain significance (Jul 27, 2020)	criteria provided, single submitter
Select item 102789423.	NM_014780.5(CUL7):c.5041C>G (p.Arg1681Gly) GRCh37: Chr6:43005482 GRCh38: Chr6:43037744	CUL7	R1713G, R1681G, R1685G, R1680G	3M syndrome 1	Uncertain significance (Aug 26, 2019)	criteria provided, single submitter
Select item 102789324.	NM_014780.5(CUL7):c.4504A>T (p.Ile1502Phe) GRCh37: Chr6:43006367 GRCh38: Chr6:43038629	CUL7	I1534F, I1501F, I1502F	3M syndrome 1	Uncertain significance (Jan 30, 2020)	criteria provided, single submitter
Select item 102789125.	NM_014780.5(CUL7):c.2381T>G (p.Leu794Arg) GRCh37: Chr6:43014634 GRCh38: Chr6:43046896	CUL7	L826R, L794R	3M syndrome 1	Uncertain significance (Jan 30, 2020)	criteria provided, single submitter
Select item 102738526.	NM_014780.5(CUL7):c.4770_4773del (p.Cys1590fs) GRCh37: Chr6:43006005-43006008 GRCh38: Chr6:43038267-43038270	CUL7	C1589fs, C1590fs, C1594fs, C1622fs	3M syndrome 1	Pathogenic (Mar 10, 2021)	no assertion criteria provided
Select item 102575127.	NM_014780.5(CUL7):c.2200C>T (p.Arg734Cys) GRCh37: Chr6:43014815 GRCh38: Chr6:43047077	CUL7	R734C, R766C	3M syndrome 1, not provided	Uncertain significance (Jun 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99801828.	NM_014780.5(CUL7):c.[3129G>A;4763T>C] GRCh37: Chr6:43006015 Chr6:43012533 GRCh38: Chr6:43038277 Chr6:43044795	CUL7, CUL7	L1587P, L1588P, L1592P, L1620P, W1043, W1075	3M syndrome 1	Pathogenic (May 31, 2019)	no assertion criteria provided
Select item 99801529.	NM_014780.5(CUL7):c.[2164C>T;4911dup] GRCh37: Chr6:43015891 Chr6:43005611-43005612 GRCh38: Chr6:43048153 Chr6:43037873-43037874	CUL7, CUL7	R722, R754, D1637, D1638, D1642, D1670	3M syndrome 1	Pathogenic (May 31, 2019)	no assertion criteria provided
Select item 99800730.	NM_014780.5(CUL7):c.4763T>C (p.Leu1588Pro) GRCh37: Chr6:43006015 GRCh38: Chr6:43038277	CUL7	L1587P, L1588P, L1592P, L1620P	3-M syndrome, not provided	Conflicting interpretations of pathogenicity (Feb 16, 2023)	criteria provided, conflicting interpretations
Select item 98494231.	NM_014780.5(CUL7):c.2965T>G (p.Tyr989Asp) GRCh37: Chr6:43013038 GRCh38: Chr6:43045300	CUL7	Y1021D, Y989D	3M syndrome 1	Likely pathogenic (Nov 22, 2019)	criteria provided, single submitter
Select item 95306532.	NM_014780.5(CUL7):c.1000C>A (p.Gln334Lys) GRCh37: Chr6:43018939 GRCh38: Chr6:43051201	CUL7	Q334K, Q366K	3M syndrome 1	Uncertain significance (Mar 18, 2020)	criteria provided, single submitter
Select item 92943633.	NM_014780.5(CUL7):c.418_419del (p.Thr140fs) GRCh37: Chr6:43020108-43020109 GRCh38: Chr6:43052370-43052371	CUL7	T140fs	3M syndrome 1	Pathogenic (Jun 1, 2020)	criteria provided, single submitter
Select item 91160534.	NM_014780.5(CUL7):c.60C>T (p.Ala20=) GRCh37: Chr6:43020467 GRCh38: Chr6:43052729	CUL7		3M syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91160435.	NM_014780.5(CUL7):c.140G>T (p.Arg47Leu) GRCh37: Chr6:43020387 GRCh38: Chr6:43052649	CUL7	R47L	not provided, Inborn genetic diseases, 3M syndrome 1	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91160336.	NM_014780.5(CUL7):c.213G>C (p.Lys71Asn) GRCh37: Chr6:43020314 GRCh38: Chr6:43052576	CUL7	K71N	3M syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91154037.	NM_014780.5(CUL7):c.1689T>C (p.His563=) GRCh37: Chr6:43017281 GRCh38: Chr6:43049543	CUL7		3M syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91153938.	NM_014780.5(CUL7):c.1749A>G (p.Leu583=) GRCh37: Chr6:43017221 GRCh38: Chr6:43049483	CUL7		3M syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91153839.	NM_014780.5(CUL7):c.1753G>A (p.Ala585Thr) GRCh37: Chr6:43017217 GRCh38: Chr6:43049479	CUL7	A585T, A617T	not provided, 3M syndrome 1	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91148540.	NM_014780.5(CUL7):c.2818C>T (p.Arg940Cys) GRCh37: Chr6:43013369 GRCh38: Chr6:43045631	CUL7	R972C, R940C	3M syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91148441.	NM_014780.5(CUL7):c.2819G>A (p.Arg940His) GRCh37: Chr6:43013368 GRCh38: Chr6:43045630	CUL7	R940H, R972H	not provided, 3M syndrome 1	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91148342.	NM_014780.5(CUL7):c.3080G>A (p.Arg1027His) GRCh37: Chr6:43012582 GRCh38: Chr6:43044844	CUL7	R1027H, R1059H	not provided, 3M syndrome 1	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91142143.	NM_014780.5(CUL7):c.4417C>T (p.Leu1473=) GRCh37: Chr6:43006603 GRCh38: Chr6:43038865	CUL7		not provided, 3M syndrome 1	Conflicting interpretations of pathogenicity (Feb 26, 2021)	criteria provided, conflicting interpretations
Select item 91142044.	NM_014780.5(CUL7):c.4440+13C>T GRCh37: Chr6:43006567 GRCh38: Chr6:43038829	CUL7		not provided, 3M syndrome 1	Conflicting interpretations of pathogenicity (Sep 4, 2021)	criteria provided, conflicting interpretations
Select item 91141945.	NM_014780.5(CUL7):c.4570G>A (p.Val1524Ile) GRCh37: Chr6:43006208 GRCh38: Chr6:43038470	CUL7	V1524I, V1556I, V1523I, V1528I	3M syndrome 1, not provided	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91141846.	NM_014780.5(CUL7):c.4605G>A (p.Arg1535=) GRCh37: Chr6:43006173 GRCh38: Chr6:43038435	CUL7		3M syndrome 1	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 91141747.	NM_014780.5(CUL7):c.4607C>T (p.Ser1536Leu) GRCh37: Chr6:43006171 GRCh38: Chr6:43038433	CUL7	S1535L, S1540L, S1568L, S1536L	3M syndrome 1	Uncertain significance (Aug 22, 2019)	criteria provided, multiple submitters, no conflicts
Select item 91122248.	NM_014780.5(CUL7):c.4823G>A (p.Ser1608Asn) GRCh37: Chr6:43005700 GRCh38: Chr6:43037962	CUL7	S1607N, S1612N, S1640N, S1608N	not provided, 3M syndrome 1	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91039249.	NM_014780.5(CUL7):c.268G>A (p.Gly90Arg) GRCh37: Chr6:43020259 GRCh38: Chr6:43052521	CUL7	G90R	not provided, 3M syndrome 1	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91032750.	NM_014780.5(CUL7):c.1823A>G (p.Glu608Gly) GRCh37: Chr6:43017147 GRCh38: Chr6:43049409	CUL7	E608G, E640G	not provided, 3M syndrome 1	Conflicting interpretations of pathogenicity (Aug 12, 2022)	criteria provided, conflicting interpretations
Select item 91032651.	NM_014780.5(CUL7):c.1867C>T (p.Arg623Cys) GRCh37: Chr6:43016266 GRCh38: Chr6:43048528	CUL7	R623C, R655C	not provided, 3M syndrome 1	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91026652.	NM_014780.5(CUL7):c.3184A>G (p.Ile1062Val) GRCh37: Chr6:43011357 GRCh38: Chr6:43043619	CUL7	I1094V, I1062V	3M syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91026553.	NM_014780.5(CUL7):c.3283C>T (p.Arg1095Cys) GRCh37: Chr6:43011258 GRCh38: Chr6:43043520	CUL7	R1095C, R1127C	3M syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91026454.	NM_014780.5(CUL7):c.3284G>A (p.Arg1095His) GRCh37: Chr6:43011257 GRCh38: Chr6:43043519	CUL7	R1127H, R1095H	not provided, 3M syndrome 1	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91026355.	NM_014780.5(CUL7):c.3463-15G>T GRCh37: Chr6:43010737 GRCh38: Chr6:43042999	CUL7		3M syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90944356.	NM_014780.5(CUL7):c.767G>A (p.Arg256Gln) GRCh37: Chr6:43019172 GRCh38: Chr6:43051434	CUL7	R288Q, R256Q	not provided, 3M syndrome 1	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90944257.	NM_014780.5(CUL7):c.866G>C (p.Arg289Thr) GRCh37: Chr6:43019073 GRCh38: Chr6:43051335	CUL7	R321T, R289T	not provided, 3M syndrome 1	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90936458.	NM_014780.5(CUL7):c.2360G>A (p.Arg787His) GRCh37: Chr6:43014655 GRCh38: Chr6:43046917	CUL7	R787H, R819H	not provided, 3M syndrome 1	Uncertain significance (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90929159.	NM_014780.5(CUL7):c.3491G>A (p.Arg1164Gln) GRCh37: Chr6:43010694 GRCh38: Chr6:43042956	CUL7	R1163Q, R1164Q, R1196Q	3M syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90929060.	NM_014780.5(CUL7):c.3605C>T (p.Ala1202Val) GRCh37: Chr6:43010580 GRCh38: Chr6:43042842	CUL7	A1201V, A1234V, A1202V	not provided, 3M syndrome 1	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90922861.	NM_014780.5(CUL7):c.4972G>A (p.Glu1658Lys) GRCh37: Chr6:43005551 GRCh38: Chr6:43037813	CUL7	E1658K, E1690K, E1662K, E1657K	3M syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90922762.	NM_014780.5(CUL7):c.5093G>A (p.Arg1698Gln) GRCh37: Chr6:43005430 GRCh38: Chr6:43037692	CUL7	R1702Q, R1730Q, R1697Q, R1698Q	not provided, 3M syndrome 1	Uncertain significance (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90865163.	NM_014780.5(CUL7):c.-206A>G GRCh37: Chr6:43021557 GRCh38: Chr6:43053819	CUL7, LOC129996487		3M syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90865064.	NM_014780.5(CUL7):c.-186A>C GRCh37: Chr6:43021537 GRCh38: Chr6:43053799	LOC129996487, CUL7		3M syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90858665.	NM_014780.5(CUL7):c.1101T>C (p.Asn367=) GRCh37: Chr6:43018838 GRCh38: Chr6:43051100	CUL7		3M syndrome 1	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 90858566.	NM_014780.5(CUL7):c.1165T>C (p.Tyr389His) GRCh37: Chr6:43018774 GRCh38: Chr6:43051036	CUL7	Y389H, Y421H	3M syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90858467.	NM_014780.5(CUL7):c.1417G>A (p.Val473Met) GRCh37: Chr6:43017853 GRCh38: Chr6:43050115	CUL7	V473M, V505M	3M syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90858368.	NM_014780.5(CUL7):c.1457G>A (p.Cys486Tyr) GRCh37: Chr6:43017813 GRCh38: Chr6:43050075	CUL7	C518Y, C486Y	not provided, 3M syndrome 1	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90851569.	NM_014780.5(CUL7):c.2583C>G (p.Pro861=) GRCh37: Chr6:43014051 GRCh38: Chr6:43046313	CUL7		3M syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90851470.	NM_014780.5(CUL7):c.2612C>T (p.Ala871Val) GRCh37: Chr6:43014022 GRCh38: Chr6:43046284	CUL7	A871V, A903V	not provided, 3M syndrome 1	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90851371.	NM_014780.5(CUL7):c.2754G>T (p.Thr918=) GRCh37: Chr6:43013736 GRCh38: Chr6:43045998	CUL7		3M syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90844672.	NM_014780.5(CUL7):c.4035G>A (p.Gly1345=) GRCh37: Chr6:43008153 GRCh38: Chr6:43040415	CUL7		3M syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90844573.	NM_014780.5(CUL7):c.4059C>T (p.Ser1353=) GRCh37: Chr6:43008129 GRCh38: Chr6:43040391	CUL7		3M syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90844474.	NM_014780.5(CUL7):c.4069G>A (p.Glu1357Lys) GRCh37: Chr6:43008119 GRCh38: Chr6:43040381	CUL7	E1357K, E1356K, E1389K	3M syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 82813275.	NM_014780.5(CUL7):c.2988G>A (p.Trp996Ter) GRCh37: Chr6:43013015 GRCh38: Chr6:43045277	CUL7	W996, W1028	3M syndrome 1	Pathogenic (Feb 21, 2020)	criteria provided, single submitter
Select item 80221976.	NM_014780.5(CUL7):c.652del (p.Arg218fs) GRCh37: Chr6:43019430 GRCh38: Chr6:43051692	CUL7	R218fs, R250fs	3M syndrome 1	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80098977.	NM_014780.5(CUL7):c.1144C>T (p.Arg382Ter) GRCh37: Chr6:43018795 GRCh38: Chr6:43051057	CUL7	R414, R382	not provided	Pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 80056678.	NM_014780.5(CUL7):c.3722_3749dup (p.Val1252fs) GRCh37: Chr6:43008709-43008710 GRCh38: Chr6:43040971-43040972	CUL7	V1251fs, V1252fs, V1284fs	3M syndrome 1	Likely pathogenic	criteria provided, single submitter
Select item 75604679.	NM_014780.5(CUL7):c.426C>T (p.His142=) GRCh37: Chr6:43020101 GRCh38: Chr6:43052363	CUL7		not provided, 3M syndrome 1	Conflicting interpretations of pathogenicity (Mar 23, 2022)	criteria provided, conflicting interpretations
Select item 74451680.	NM_014780.5(CUL7):c.3915G>A (p.Leu1305=) GRCh37: Chr6:43008376 GRCh38: Chr6:43040638	CUL7		not provided, 3M syndrome 1	Conflicting interpretations of pathogenicity (Aug 31, 2021)	criteria provided, conflicting interpretations
Select item 72695581.	NM_014780.5(CUL7):c.4261A>G (p.Thr1421Ala) GRCh37: Chr6:43007927 GRCh38: Chr6:43040189	CUL7	T1420A, T1421A, T1453A	not provided, 3M syndrome 1	Benign (Sep 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71237382.	NM_014780.5(CUL7):c.1982G>A (p.Arg661Gln) GRCh37: Chr6:43016151 GRCh38: Chr6:43048413	CUL7	R693Q, R661Q	not provided, 3M syndrome 1	Benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63198283.	NM_014780.5(CUL7):c.2581C>T (p.Pro861Ser) GRCh37: Chr6:43014053 GRCh38: Chr6:43046315	CUL7	P861S, P893S	not provided, not specified, 3M syndrome 1	Conflicting interpretations of pathogenicity (May 24, 2022)	criteria provided, conflicting interpretations
Select item 63198184.	NM_014780.4(CUL7):c.2767_2789delGTGAATGTGATGCCCTCTGCCAG GRCh37: Chr6:43013398-43013420 GRCh38: Chr6:43045660-43045682	CUL7		3M syndrome 1	Uncertain significance (Oct 2, 2017)	criteria provided, single submitter
Select item 62330085.	NM_014780.5(CUL7):c.2434C>T (p.His812Tyr) GRCh37: Chr6:43014303 GRCh38: Chr6:43046565	CUL7	H812Y, H844Y	3M syndrome 1	Uncertain significance (Dec 30, 2017)	no assertion criteria provided
Select item 62329986.	NM_014780.5(CUL7):c.4406A>G (p.Gln1469Arg) GRCh37: Chr6:43006614 GRCh38: Chr6:43038876	CUL7	Q1469R, Q1468R, Q1501R	3M syndrome 1	Uncertain significance (Dec 30, 2017)	no assertion criteria provided
Select item 59927387.	NM_014780.5(CUL7):c.3089del (p.Pro1030fs) GRCh37: Chr6:43012573 GRCh38: Chr6:43044835	CUL7	P1030fs, P1062fs	3M syndrome 1	Likely pathogenic (Sep 4, 2016)	no assertion criteria provided
Select item 59927288.	NM_014780.5(CUL7):c.4115del (p.Glu1372fs) GRCh37: Chr6:43008073 GRCh38: Chr6:43040335	CUL7	E1372fs, E1371fs, E1404fs	3M syndrome 1	Likely pathogenic (Oct 7, 2016)	no assertion criteria provided
Select item 59922389.	NM_015311.3(OBSL1):c.1125dup (p.Glu376Ter) GRCh37: Chr2:220432933-220432934 GRCh38: Chr2:219568211-219568212	OBSL1	E376*	3M syndrome 2, 3M syndrome 1	Pathogenic/Likely pathogenic (Jan 4, 2015)	no assertion criteria provided
Select item 59922290.	NM_015311.3(OBSL1):c.1187G>A (p.Arg396His) GRCh37: Chr2:220432872 GRCh38: Chr2:219568150	OBSL1	R396H	3M syndrome 1	Likely pathogenic (Dec 18, 2015)	no assertion criteria provided
Select item 59922191.	NM_015311.3(OBSL1):c.1277_1282+5del GRCh37: Chr2:220432772-220432782 GRCh38: Chr2:219568050-219568060	OBSL1		3M syndrome 1	Likely pathogenic (Jan 4, 2015)	no assertion criteria provided
Select item 59921892.	NM_014780.5(CUL7):c.206dup (p.Met69fs) GRCh37: Chr6:43020320-43020321 GRCh38: Chr6:43052582-43052583	CUL7	M69fs	3M syndrome 1	Likely pathogenic (Aug 27, 2018)	no assertion criteria provided
Select item 59918593.	NM_014780.5(CUL7):c.1482G>A (p.Trp494Ter) GRCh37: Chr6:43017788 GRCh38: Chr6:43050050	CUL7	W494, W526	3M syndrome 1	Likely pathogenic (Mar 14, 2014)	no assertion criteria provided
Select item 59918494.	NM_014780.5(CUL7):c.3685C>T (p.Gln1229Ter) GRCh37: Chr6:43008774 GRCh38: Chr6:43041036	CUL7	Q1229, Q1228, Q1261*	3M syndrome 1	Likely pathogenic (Oct 10, 2014)	no assertion criteria provided
Select item 59701595.	NM_014780.5(CUL7):c.509T>G (p.Leu170Trp) GRCh37: Chr6:43020018 GRCh38: Chr6:43052280	CUL7	L170W	Inborn genetic diseases, not provided, 3M syndrome 1	Uncertain significance (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 58752996.	NM_014780.5(CUL7):c.4120GAG[2] (p.Glu1376del) GRCh37: Chr6:43008060-43008062 GRCh38: Chr6:43040322-43040324	CUL7	E1376del, E1375del, E1408del	3M syndrome 1, not provided	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 49742597.	NM_014780.5(CUL7):c.1648C>T (p.Arg550Ter) GRCh37: Chr6:43017322 GRCh38: Chr6:43049584	CUL7	R550, R634, R582*	not provided, 3M syndrome 1	Pathogenic (Nov 22, 2019)	criteria provided, multiple submitters, no conflicts
Select item 42172898.	NM_014780.5(CUL7):c.922G>T (p.Val308Leu) GRCh37: Chr6:43019017 GRCh38: Chr6:43051279	CUL7	V308L, V340L	not provided, 3M syndrome 1	Uncertain significance (Sep 16, 2019)	criteria provided, multiple submitters, no conflicts
Select item 35686599.	NM_014780.4(CUL7):c.-300G>C GRCh37: Chr6:43021651 GRCh38: Chr6:43053913	CUL7, LOC129996487		3M syndrome 1	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 356864100.	NM_014780.4(CUL7):c.-298C>G GRCh37: Chr6:43021649 GRCh38: Chr6:43053911	CUL7, LOC129996487		3M syndrome 1	Likely benign (Jan 13, 2018)	criteria provided, single submitter

<< First< Prev

Page of 2