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Links from MedGen

Items: 31

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:48197516
GRCh38:
Chr19:47694259
BICRAV810MCoffin-Siris syndrome 12Uncertain significance
(Mar 30, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr19:48197371-48246391
BICRA, EHD2Coffin-Siris syndrome 12Likely pathogenic
(Jan 18, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr19:48205637-48205638
GRCh38:
Chr19:47702380-47702381
BICRAA1555fsCoffin-Siris syndrome 12Uncertain significance
(Jan 18, 2023)
criteria provided, single submitter
4.
GRCh37:
Chr19:48197818-48197821
GRCh38:
Chr19:47694561-47694564
BICRAP912fsCoffin-Siris syndrome 12Likely pathogenic
(Jan 18, 2023)
criteria provided, single submitter
5.
GRCh37:
Chr19:48183063-48183093
GRCh38:
Chr19:47679806-47679836
BICRAL214fsCoffin-Siris syndrome 12Pathogenic
(Jan 18, 2023)
criteria provided, single submitter
6.
GRCh37:
Chr19:47028919-48185409
Coffin-Siris syndrome 12Likely pathogenic
(Jan 18, 2023)
criteria provided, single submitter
7.
GRCh37:
Chr19:48184360
GRCh38:
Chr19:47681103
BICRAQ645*Coffin-Siris syndrome 12Likely pathogenic
(Sep 16, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr19:48198626
GRCh38:
Chr19:47695369
BICRACoffin-Siris syndrome 12Uncertain significance
(Dec 14, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr19:48205242
GRCh38:
Chr19:47701985
BICRAP1418LCoffin-Siris syndrome 12Uncertain significance
(Mar 17, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr19:48197862
GRCh38:
Chr19:47694605
BICRAT925ICoffin-Siris syndrome 12Uncertain significance
(Aug 25, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr19:48204665
GRCh38:
Chr19:47701408
BICRAP1226SCoffin-Siris syndrome 12Uncertain significance
(Sep 23, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr19:48179168
GRCh38:
Chr19:47675911
BICRAP49SCoffin-Siris syndrome 12Uncertain significance
(Feb 9, 2023)
criteria provided, single submitter
13.
GRCh37:
Chr19:48183651
GRCh38:
Chr19:47680394
BICRAN408KCoffin-Siris syndrome 12, not providedUncertain significance
(Aug 4, 2023)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr19:48183936-48183937
GRCh38:
Chr19:47680679-47680680
BICRAH504fsCoffin-Siris syndrome 12Likely pathogeniccriteria provided, single submitter
15.
GRCh37:
Chr19:48184348
GRCh38:
Chr19:47681091
BICRAQ641*Coffin-Siris syndrome 12Pathogenic
(Nov 2, 2020)
criteria provided, single submitter
16.
GRCh37:
Chr19:48184041
GRCh38:
Chr19:47680784
BICRAS538RCoffin-Siris syndrome 12Uncertain significance
(Jul 12, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr19:48197522
GRCh38:
Chr19:47694265
BICRAR812CCoffin-Siris syndrome 12Uncertain significance
(Apr 26, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr19:48183400-48183401
GRCh38:
Chr19:47680143-47680144
BICRAG330fsCoffin-Siris syndrome 12Pathogenic
(Jul 8, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr19:48197458
GRCh38:
Chr19:47694201
BICRAH790QCoffin-Siris syndrome 12Uncertain significance
(Feb 15, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr19:48197492
GRCh38:
Chr19:47694235
BICRAR802CInborn genetic diseases, Coffin-Siris syndrome 12Uncertain significance
(Jun 30, 2023)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr19:48205326-48205327
GRCh38:
Chr19:47702069-47702070
BICRAP1449fsCoffin-Siris syndrome 12Likely pathogeniccriteria provided, single submitter
22.
GRCh37:
Chr19:48202596
GRCh38:
Chr19:47699339
BICRA, LOC121627883R1177*Coffin-Siris syndrome 12Likely pathogeniccriteria provided, single submitter
23.
GRCh37:
Chr19:48205554
GRCh38:
Chr19:47702297
BICRAS1522LCoffin-Siris syndrome 12Uncertain significance
(Jul 23, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr19:48199770
GRCh38:
Chr19:47696513
BICRACoffin-Siris syndrome 12Pathogenic
(May 4, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr19:48182942
GRCh38:
Chr19:47679685
BICRAP172LCoffin-Siris syndrome 12, not specified, not provided
Uncertain significance
(Oct 30, 2023)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr19:48182809-48182824
GRCh38:
Chr19:47679552-47679567
BICRAF129fsCoffin-Siris syndrome 12Likely pathogenic
(Oct 20, 2021)
no assertion criteria provided
27.
GRCh37:
Chr19:48182619
GRCh38:
Chr19:47679362
BICRAE64DCoffin-Siris syndrome 12Pathogenic
(May 20, 2021)
no assertion criteria provided
28.
GRCh37:
Chr19:48197567-48197568
GRCh38:
Chr19:47694310-47694311
BICRAA827fsCoffin-Siris syndrome 12Pathogenic
(Jun 10, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr19:48184420
GRCh38:
Chr19:47681163
BICRAQ665*Coffin-Siris syndrome 12Pathogenic
(May 20, 2021)
no assertion criteria provided
30.
GRCh37:
Chr19:48183362
GRCh38:
Chr19:47680105
BICRAA313fsBICRA-related conditionUncertain significance
(Jul 10, 2019)
criteria provided, single submitter
31.
GRCh37:
Chr19:48199767-48199768
GRCh38:
Chr19:47696510-47696511
BICRAC1083fsIntellectual disability, Coffin-Siris syndrome 12Pathogenic
(May 20, 2021)
no assertion criteria provided
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