| - GRCh37:
- Chr7:97483887-97483893
- GRCh38:
- Chr7:97854575-97854581
| CZ1P-ASNS, ASNS | | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Likely pathogenic
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:97498305
- GRCh38:
- Chr7:97868993
| ASNS, CZ1P-ASNS | P55L, P34L | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not provided | Uncertain significance
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97481679
- GRCh38:
- Chr7:97852367
| ASNS, CZ1P-ASNS | Y505*, Y443*, Y526* | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Likely pathogenic
(Dec 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:97498256
- GRCh38:
- Chr7:97868944
| ASNS, CZ1P-ASNS | W50*, W71* | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Pathogenic
(Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:97487722
- GRCh38:
- Chr7:97858410
| ASNS, CZ1P-ASNS | | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Pathogenic
(Jun 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:97493574
- GRCh38:
- Chr7:97864262
| ASNS, CZ1P-ASNS | K141E, K162E, K79E | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Uncertain significance
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:97483895
- GRCh38:
- Chr7:97854583
| ASNS, CZ1P-ASNS | H329R, H391R, H412R | not provided, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97484000
- GRCh38:
- Chr7:97854688
| ASNS, CZ1P-ASNS | | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not provided | Conflicting interpretations of pathogenicity
(Aug 7, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:97483920
- GRCh38:
- Chr7:97854608
| CZ1P-ASNS, ASNS | R383C, R321C, R404C | not provided, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Conflicting interpretations of pathogenicity
(Aug 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:97488658
- GRCh38:
- Chr7:97859346
| ASNS, CZ1P-ASNS | L160fs, L181fs, L98fs | not provided, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Pathogenic/Likely pathogenic
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97488188-97488191
- GRCh38:
- Chr7:97858876-97858879
| ASNS, CZ1P-ASNS | D167fs, D250fs, D229fs | not provided, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Pathogenic/Likely pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97484753
- GRCh38:
- Chr7:97855441
| ASNS, CZ1P-ASNS | K267R, K329R, K350R | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Uncertain significance
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:97498462
- GRCh38:
- Chr7:97869150
| ASNS, CZ1P-ASNS | G3S | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Uncertain significance
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:97498245
- GRCh38:
- Chr7:97868933
| CZ1P-ASNS, ASNS | N54S, N75S | not provided, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Pathogenic/Likely pathogenic
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97493645
- GRCh38:
- Chr7:97864333
| ASNS, CZ1P-ASNS | D117A, D138A, D55A | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr7:97484743
- GRCh38:
- Chr7:97855431
| ASNS, CZ1P-ASNS | K271fs, K333fs, K354fs | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Likely pathogenic
(Sep 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:97483919
- GRCh38:
- Chr7:97854607
| CZ1P-ASNS, ASNS | R321H, R383H, R404H | not provided, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Likely pathogenic
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97487625
- GRCh38:
- Chr7:97858313
| CZ1P-ASNS, ASNS | M207V, M269V, M290V | Inborn genetic diseases, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not provided
| Uncertain significance
(Aug 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97488576
- GRCh38:
- Chr7:97859264
| CZ1P-ASNS, ASNS | R125W, R187W, R208W | not provided | Uncertain significance
(Feb 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97498378
- GRCh38:
- Chr7:97869066
| ASNS, CZ1P-ASNS | A10S, A31S | not provided | Uncertain significance
(Dec 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97481629
- GRCh38:
- Chr7:97852317
| ASNS, CZ1P-ASNS | N460S, N522S, N543S | not provided | Uncertain significance
(Jun 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97483971
- GRCh38:
- Chr7:97854659
| ASNS, CZ1P-ASNS | E304K, E366K, E387K | Inborn genetic diseases, not provided | Uncertain significance
(Jul 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97481664
- GRCh38:
- Chr7:97852352
| CZ1P-ASNS, ASNS | D448E, D510E, D531E | not provided | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:97484744
- GRCh38:
- Chr7:97855432
| CZ1P-ASNS, ASNS | R270Q, R332Q, R353Q | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not provided | Uncertain significance
(Jun 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97483955
- GRCh38:
- Chr7:97854643
| ASNS, CZ1P-ASNS | R309K, R371K, R392K | not provided | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97482633
- GRCh38:
- Chr7:97853321
| ASNS, CZ1P-ASNS | E352A, E414A, E435A | not provided | Uncertain significance
(Aug 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97488733
- GRCh38:
- Chr7:97859421
| ASNS, CZ1P-ASNS | | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not provided | Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97488350
- GRCh38:
- Chr7:97859038
| ASNS, CZ1P-ASNS | | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not provided | Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97483750
- GRCh38:
- Chr7:97854438
| ASNS, CZ1P-ASNS | | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not provided | Benign/Likely benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97481812
- GRCh38:
- Chr7:97852500
| ASNS, CZ1P-ASNS | | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not provided | Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97483921
- GRCh38:
- Chr7:97854609
| CZ1P-ASNS, ASNS | | not provided | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97493770
- GRCh38:
- Chr7:97864458
| ASNS, CZ1P-ASNS | | not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97487730
- GRCh38:
- Chr7:97858418
| ASNS, CZ1P-ASNS | | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not provided | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97481583
- GRCh38:
- Chr7:97852271
| ASNS, CZ1P-ASNS | | not provided | Likely benign
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:97498468
- GRCh38:
- Chr7:97869156
| ASNS, CZ1P-ASNS | M1V | not provided | Likely pathogenic
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:97484690
- GRCh38:
- Chr7:97855378
| ASNS, CZ1P-ASNS | T288M, T371M, T350M | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not provided | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97498245
- GRCh38:
- Chr7:97868933
| ASNS, CZ1P-ASNS | N54I, N75I | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Uncertain significance
(Feb 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97484664
- GRCh38:
- Chr7:97855352
| ASNS, CZ1P-ASNS | | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Pathogenic
(Jun 7, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr7:97488585
- GRCh38:
- Chr7:97859273
| ASNS, CZ1P-ASNS | H122Y, H184Y, H205Y | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Uncertain significance
(Aug 14, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr7:97481687
- GRCh38:
- Chr7:97852375
| ASNS, CZ1P-ASNS | R441S, R503S, R524S | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Uncertain significance
(Aug 15, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr7:97488531-97488532
- GRCh38:
- Chr7:97859219-97859220
| ASNS, CZ1P-ASNS | F140fs, F202fs, F223fs | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Likely pathogenic
(Feb 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:97493621
- GRCh38:
- Chr7:97864309
| ASNS, CZ1P-ASNS | F125S, F146S, F63S | not specified, not provided | Uncertain significance
(May 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97498350
- GRCh38:
- Chr7:97869038
| ASNS, CZ1P-ASNS | Y19C, Y40C | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr7:97493781
- GRCh38:
- Chr7:97864469
| ASNS, CZ1P-ASNS | Q10*, Q93*, Q72* | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not provided | Pathogenic/Likely pathogenic
(Sep 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97483965
- GRCh38:
- Chr7:97854653
| CZ1P-ASNS, ASNS | E306*, E368*, E389* | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not provided | Pathogenic/Likely pathogenic
(Feb 19, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97484771
- GRCh38:
- Chr7:97855459
| ASNS, CZ1P-ASNS | G261V, G344V, G323V | not provided | Uncertain significance
(Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:97482371
- GRCh38:
- Chr7:97853059
| ASNS, CZ1P-ASNS | | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Pathogenic
(Feb 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97482616
- GRCh38:
- Chr7:97853304
| ASNS, CZ1P-ASNS | | Inborn genetic diseases, not provided, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
| Likely pathogenic
(Nov 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97482455
- GRCh38:
- Chr7:97853143
| ASNS, CZ1P-ASNS | R382*, R465*, R444* | Inborn genetic diseases, not provided, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
| Pathogenic/Likely pathogenic
(Nov 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97487610
- GRCh38:
- Chr7:97858298
| ASNS, CZ1P-ASNS | D274N, D212N, D295N | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not provided | Conflicting interpretations of pathogenicity
(Jun 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:97483917
- GRCh38:
- Chr7:97854605
| ASNS, CZ1P-ASNS | A322T, A405T, A384T | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not provided | Conflicting interpretations of pathogenicity
(Mar 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:97483937
- GRCh38:
- Chr7:97854625
| ASNS, CZ1P-ASNS | Y377C, Y398C, Y315C | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not provided | Pathogenic/Likely pathogenic
(Mar 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97483970
- GRCh38:
- Chr7:97854658
| ASNS, CZ1P-ASNS | E304G, E387G, E366G | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Likely pathogenic
(Sep 26, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr7:97481608
- GRCh38:
- Chr7:97852296
| ASNS, CZ1P-ASNS | R467H, R550H, R529H | Inborn genetic diseases, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not provided
| Pathogenic/Likely pathogenic
(Oct 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97488604
- GRCh38:
- Chr7:97859292
| ASNS, CZ1P-ASNS | | not provided | Likely benign
(Nov 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:97481631
- GRCh38:
- Chr7:97852319
| ASNS, CZ1P-ASNS | | not provided | Likely benign
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:97483966
- GRCh38:
- Chr7:97854654
| ASNS, CZ1P-ASNS | | not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97498451
- GRCh38:
- Chr7:97869139
| ASNS, CZ1P-ASNS | | not provided | Benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97488685
- GRCh38:
- Chr7:97859373
| ASNS, CZ1P-ASNS | | not provided | Likely benign
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:97498316
- GRCh38:
- Chr7:97869004
| ASNS, CZ1P-ASNS | | not provided | Likely benign
(Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:97493818
- GRCh38:
- Chr7:97864506
| CZ1P-ASNS, ASNS | | not provided | Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97482484
- GRCh38:
- Chr7:97853172
| ASNS, CZ1P-ASNS | S434F, S455F, S372F | not provided, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not specified
| Conflicting interpretations of pathogenicity
(Oct 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:97481670
- GRCh38:
- Chr7:97852358
| ASNS, CZ1P-ASNS | | not specified, not provided | Benign/Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97488607
- GRCh38:
- Chr7:97859295
| ASNS, CZ1P-ASNS | | not provided | Benign
(Nov 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:97488569
- GRCh38:
- Chr7:97859257
| ASNS, CZ1P-ASNS | V127E, V210E, V189E | not provided, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97483992
- GRCh38:
- Chr7:97854680
| CZ1P-ASNS, ASNS | A380S, A359S, A297S | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Pathogenic
(Jul 17, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr7:97484705
- GRCh38:
- Chr7:97855393
| ASNS, CZ1P-ASNS | G366E, G283E, G345E | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Pathogenic
(Jul 17, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr7:97486013
- GRCh38:
- Chr7:97856701
| CZ1P-ASNS, ASNS | R340H, R319H, R257H | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not provided | Conflicting interpretations of pathogenicity
(Mar 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:97498266
- GRCh38:
- Chr7:97868954
| ASNS, CZ1P-ASNS | P68L, P47L | not provided, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Uncertain significance
(Mar 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97498440
- GRCh38:
- Chr7:97869128
| ASNS, CZ1P-ASNS | S10N | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Uncertain significance
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:97488629
- GRCh38:
- Chr7:97859317
| ASNS, CZ1P-ASNS | L190*, L107*, L169* | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Pathogenic
(Dec 30, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:97488597
- GRCh38:
- Chr7:97859285
| ASNS, CZ1P-ASNS | M180fs, M201fs, M118fs | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Pathogenic
(Mar 31, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr7:97483965
- GRCh38:
- Chr7:97854653
| ASNS, CZ1P-ASNS | E389Q, E306Q, E368Q | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Likely pathogenic
(Mar 31, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr7:97498267
- GRCh38:
- Chr7:97868955
| ASNS, CZ1P-ASNS | P47T, P68T | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Likely pathogenic
(Dec 3, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:97481641
- GRCh38:
- Chr7:97852329
| ASNS, CZ1P-ASNS | P539L, P456L, P518L | not provided | Uncertain significance
(Apr 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97482383
- GRCh38:
- Chr7:97853071
| ASNS, CZ1P-ASNS | V489I, V406I, V468I | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not provided | Uncertain significance
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97498372
- GRCh38:
- Chr7:97869060
| ASNS, CZ1P-ASNS | R33C, R12C | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not specified | Pathogenic/Likely pathogenic
(May 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97486001
- GRCh38:
- Chr7:97856689
| ASNS, CZ1P-ASNS | | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Likely pathogenic
(Nov 30, 2016) | criteria provided, single submitter |
| | | | Abnormality of neuronal migration | Pathogenic
(Oct 31, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr7:97498323
- GRCh38:
- Chr7:97869011
| ASNS, CZ1P-ASNS | R49Q, R28Q | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not provided, Neurodevelopmental delay
| Conflicting interpretations of pathogenicity
(Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:97483937-97483938
- GRCh38:
- Chr7:97854625-97854626
| ASNS, CZ1P-ASNS | Y315fs, Y398fs, Y377fs | not provided | Pathogenic/Likely pathogenic
(Apr 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97488213
- GRCh38:
- Chr7:97858901
| ASNS, CZ1P-ASNS | V243A, V160A, V222A | not provided | Conflicting interpretations of pathogenicity
(Aug 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:97482409
- GRCh38:
- Chr7:97853097
| CZ1P-ASNS, ASNS | S480F, S397F, S459F | not provided, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Conflicting interpretations of pathogenicity
(Aug 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:97493580
- GRCh38:
- Chr7:97864268
| ASNS, CZ1P-ASNS | E139fs, E160fs, E77fs | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not provided | Pathogenic
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97493645
- GRCh38:
- Chr7:97864333
| ASNS, CZ1P-ASNS | D138V, D55V, D117V | not provided, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | Conflicting interpretations of pathogenicity
(Sep 1, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:97498452
- GRCh38:
- Chr7:97869140
| ASNS, CZ1P-ASNS | A6E | not provided | Pathogenic/Likely pathogenic
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97481609
- GRCh38:
- Chr7:97852297
| ASNS, CZ1P-ASNS | R550C, R529C, R467C | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not provided | Pathogenic/Likely pathogenic
(Mar 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:97484718
- GRCh38:
- Chr7:97855406
| ASNS, CZ1P-ASNS | F362V, F341V, F279V | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, not provided | Pathogenic/Likely pathogenic
(Sep 25, 2022) | criteria provided, multiple submitters, no conflicts |