ClinVar for MedGen (Select 335969) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24385421.	NM_003384.3(VRK1):c.221C>A (p.Pro74His) GRCh37: Chr14:97312436 GRCh38: Chr14:96846099	VRK1	P74H	Pontocerebellar hypoplasia type 1A	Uncertain significance (Nov 24, 2021)	criteria provided, single submitter
Select item 24281312.	NM_003384.3(VRK1):c.105_108del (p.Lys35fs) GRCh37: Chr14:97299911-97299914 GRCh38: Chr14:96833574-96833577	VRK1	K35fs	Pontocerebellar hypoplasia type 1A	Pathogenic (Apr 25, 2022)	criteria provided, single submitter
Select item 24145073.	NM_003384.3(VRK1):c.998G>A (p.Ser333Asn) GRCh37: Chr14:97327002 GRCh38: Chr14:96860665	VRK1	S333N	Pontocerebellar hypoplasia type 1A	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 21977024.	NM_003384.3(VRK1):c.897T>C (p.Ile299=) GRCh37: Chr14:97326901 GRCh38: Chr14:96860564	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 21901455.	NM_003384.3(VRK1):c.710-1G>A GRCh37: Chr14:97322466 GRCh38: Chr14:96856129	VRK1		Pontocerebellar hypoplasia type 1A	Likely pathogenic (Oct 8, 2022)	criteria provided, single submitter
Select item 21840686.	NM_003384.3(VRK1):c.608G>A (p.Arg203Gln) GRCh37: Chr14:97321592 GRCh38: Chr14:96855255	VRK1	R203Q	Pontocerebellar hypoplasia type 1A	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 21796577.	NM_003384.3(VRK1):c.1160-4C>T GRCh37: Chr14:97347510 GRCh38: Chr14:96881173	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 21759078.	NM_003384.3(VRK1):c.287-7T>C GRCh37: Chr14:97313587 GRCh38: Chr14:96847250	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 21754889.	NM_003384.3(VRK1):c.1160-7del GRCh37: Chr14:97347507 GRCh38: Chr14:96881170	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 217059410.	NM_003384.3(VRK1):c.1069-19_1069-16del GRCh37: Chr14:97342347-97342350 GRCh38: Chr14:96876010-96876013	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 217019911.	NM_003384.3(VRK1):c.1035G>T (p.Glu345Asp) GRCh37: Chr14:97327039 GRCh38: Chr14:96860702	VRK1	E345D	Pontocerebellar hypoplasia type 1A	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 216796312.	NM_003384.3(VRK1):c.633_636del (p.Lys211fs) GRCh37: Chr14:97321615-97321618 GRCh38: Chr14:96855278-96855281	VRK1	K211fs	Pontocerebellar hypoplasia type 1A	Pathogenic (Aug 6, 2022)	criteria provided, single submitter
Select item 216415613.	NM_003384.3(VRK1):c.1081_1084del (p.Glu361fs) GRCh37: Chr14:97342371-97342374 GRCh38: Chr14:96876034-96876037	VRK1	E361fs	Pontocerebellar hypoplasia type 1A	Pathogenic (Sep 14, 2022)	criteria provided, single submitter
Select item 216347614.	NM_003384.3(VRK1):c.684G>C (p.Thr228=) GRCh37: Chr14:97321668 GRCh38: Chr14:96855331	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Jul 31, 2022)	criteria provided, single submitter
Select item 216246315.	NM_003384.3(VRK1):c.1096A>G (p.Lys366Glu) GRCh37: Chr14:97342394 GRCh38: Chr14:96876057	VRK1	K365E, K366E	Pontocerebellar hypoplasia type 1A	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 216228816.	NM_003384.3(VRK1):c.1171A>G (p.Arg391Gly) GRCh37: Chr14:97347525 GRCh38: Chr14:96881188	VRK1	R391G, R390G, R415G	Pontocerebellar hypoplasia type 1A	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 215107517.	NM_003384.3(VRK1):c.767C>T (p.Thr256Ile) GRCh37: Chr14:97322524 GRCh38: Chr14:96856187	VRK1	T256I	Pontocerebellar hypoplasia type 1A	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 215000918.	NM_003384.3(VRK1):c.160+1del GRCh37: Chr14:97299968 GRCh38: Chr14:96833631	VRK1		Pontocerebellar hypoplasia type 1A	Pathogenic (Jun 14, 2022)	criteria provided, single submitter
Select item 214910819.	NM_003384.3(VRK1):c.339T>C (p.Tyr113=) GRCh37: Chr14:97313646 GRCh38: Chr14:96847309	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 214511120.	NM_003384.3(VRK1):c.969T>C (p.Ile323=) GRCh37: Chr14:97326973 GRCh38: Chr14:96860636	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 213055221.	NM_003384.3(VRK1):c.12A>T (p.Val4=) GRCh37: Chr14:97299820 GRCh38: Chr14:96833483	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 212597022.	NM_003384.3(VRK1):c.183A>G (p.Ser61=) GRCh37: Chr14:97304121 GRCh38: Chr14:96837784	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 212449223.	NM_003384.3(VRK1):c.804T>G (p.Pro268=) GRCh37: Chr14:97322561 GRCh38: Chr14:96856224	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 212207324.	NM_003384.3(VRK1):c.216+1G>A GRCh37: Chr14:97304155 GRCh38: Chr14:96837818	VRK1		Pontocerebellar hypoplasia type 1A	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 211985725.	NM_003384.3(VRK1):c.161-6A>T GRCh37: Chr14:97304093 GRCh38: Chr14:96837756	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 211756326.	NM_003384.3(VRK1):c.582C>T (p.Tyr194=) GRCh37: Chr14:97321566 GRCh38: Chr14:96855229	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 211546727.	NM_003384.3(VRK1):c.948T>G (p.Leu316=) GRCh37: Chr14:97326952 GRCh38: Chr14:96860615	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 210816328.	NM_003384.3(VRK1):c.159_160insCATATATCTT (p.Ala54fs) GRCh37: Chr14:97299958-97299959 GRCh38: Chr14:96833621-96833622	VRK1	L53del, A54fs	Pontocerebellar hypoplasia type 1A	Pathogenic (Mar 10, 2022)	criteria provided, single submitter
Select item 210404029.	NM_003384.3(VRK1):c.673A>G (p.Ile225Val) GRCh37: Chr14:97321657 GRCh38: Chr14:96855320	VRK1	I225V	Pontocerebellar hypoplasia type 1A	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 210345530.	NM_003384.3(VRK1):c.221C>G (p.Pro74Arg) GRCh37: Chr14:97312436 GRCh38: Chr14:96846099	VRK1	P74R	Pontocerebellar hypoplasia type 1A	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 210137631.	NM_003384.3(VRK1):c.22C>T (p.Gln8Ter) GRCh37: Chr14:97299830 GRCh38: Chr14:96833493	VRK1	Q8*	Pontocerebellar hypoplasia type 1A	Pathogenic (Feb 21, 2022)	criteria provided, single submitter
Select item 210090232.	NM_003384.3(VRK1):c.133C>A (p.Gln45Lys) GRCh37: Chr14:97299941 GRCh38: Chr14:96833604	VRK1	Q45K	Pontocerebellar hypoplasia type 1A	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 209491733.	NM_003384.3(VRK1):c.534C>T (p.Ile178=) GRCh37: Chr14:97319461 GRCh38: Chr14:96853124	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 209377634.	NM_003384.3(VRK1):c.672T>A (p.Thr224=) GRCh37: Chr14:97321656 GRCh38: Chr14:96855319	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 209159935.	NM_003384.3(VRK1):c.1069-9A>T GRCh37: Chr14:97342358 GRCh38: Chr14:96876021	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 208561336.	NM_003384.3(VRK1):c.374+7A>T GRCh37: Chr14:97313688 GRCh38: Chr14:96847351	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Jan 22, 2022)	criteria provided, single submitter
Select item 206270537.	NM_003384.3(VRK1):c.270T>C (p.Ala90=) GRCh37: Chr14:97312485 GRCh38: Chr14:96846148	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Dec 27, 2021)	criteria provided, single submitter
Select item 206200538.	NM_003384.3(VRK1):c.1149del (p.Ile384fs) GRCh37: Chr14:97342446 GRCh38: Chr14:96876109	VRK1	I384fs	Pontocerebellar hypoplasia type 1A	Pathogenic (Dec 27, 2021)	criteria provided, single submitter
Select item 205987439.	NM_003384.3(VRK1):c.830+16_830+20del GRCh37: Chr14:97322600-97322604 GRCh38: Chr14:96856263-96856267	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 205195140.	NM_003384.3(VRK1):c.889+10G>A GRCh37: Chr14:97322933 GRCh38: Chr14:96856596	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 204616641.	NM_003384.3(VRK1):c.747T>C (p.Tyr249=) GRCh37: Chr14:97322504 GRCh38: Chr14:96856167	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 203956142.	NM_003384.3(VRK1):c.500del (p.Tyr167fs) GRCh37: Chr14:97319427 GRCh38: Chr14:96853090	VRK1	Y167fs	Pontocerebellar hypoplasia type 1A	Pathogenic (Dec 11, 2021)	criteria provided, single submitter
Select item 203742443.	NM_003384.3(VRK1):c.484-18T>G GRCh37: Chr14:97319393 GRCh38: Chr14:96853056	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 203693344.	NM_003384.3(VRK1):c.-5-146A>G GRCh37: Chr14:97299658 GRCh38: Chr14:96833321	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 203671245.	NM_003384.3(VRK1):c.950_951dup (p.Glu318fs) GRCh37: Chr14:97326952-97326953 GRCh38: Chr14:96860615-96860616	VRK1	E318fs	Pontocerebellar hypoplasia type 1A	Pathogenic (Oct 25, 2022)	criteria provided, single submitter
Select item 203501046.	NM_003384.3(VRK1):c.948T>C (p.Leu316=) GRCh37: Chr14:97326952 GRCh38: Chr14:96860615	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 202963947.	NM_003384.3(VRK1):c.286+11C>A GRCh37: Chr14:97312512 GRCh38: Chr14:96846175	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 202892648.	NM_003384.3(VRK1):c.1069-2A>G GRCh37: Chr14:97342365 GRCh38: Chr14:96876028	VRK1		Pontocerebellar hypoplasia type 1A	Likely pathogenic (Sep 3, 2022)	criteria provided, single submitter
Select item 202276949.	NM_003384.3(VRK1):c.354A>G (p.Leu118=) GRCh37: Chr14:97313661 GRCh38: Chr14:96847324	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 201589850.	NM_003384.3(VRK1):c.399C>T (p.Arg133=) GRCh37: Chr14:97319192 GRCh38: Chr14:96852855	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 200351951.	NM_003384.3(VRK1):c.1061dup (p.Thr355fs) GRCh37: Chr14:97327064-97327065 GRCh38: Chr14:96860727-96860728	VRK1	T355fs	Pontocerebellar hypoplasia type 1A	Pathogenic (Jun 8, 2022)	criteria provided, single submitter
Select item 198912052.	NM_003384.3(VRK1):c.616C>T (p.Pro206Ser) GRCh37: Chr14:97321600 GRCh38: Chr14:96855263	VRK1	P206S	Pontocerebellar hypoplasia type 1A	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 198630753.	NM_003384.3(VRK1):c.105G>A (p.Lys35=) GRCh37: Chr14:97299913 GRCh38: Chr14:96833576	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 198466854.	NM_003384.3(VRK1):c.291G>T (p.Gln97His) GRCh37: Chr14:97313598 GRCh38: Chr14:96847261	VRK1	Q97H	Pontocerebellar hypoplasia type 1A	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 198348555.	NM_003384.3(VRK1):c.388A>T (p.Ile130Leu) GRCh37: Chr14:97319181 GRCh38: Chr14:96852844	VRK1	I130L	Inborn genetic diseases, Pontocerebellar hypoplasia type 1A	Uncertain significance (Jun 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 197839056.	NM_003384.3(VRK1):c.1068+10G>A GRCh37: Chr14:97327082 GRCh38: Chr14:96860745	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 197728657.	NM_003384.3(VRK1):c.512A>G (p.His171Arg) GRCh37: Chr14:97319439 GRCh38: Chr14:96853102	VRK1	H171R	Pontocerebellar hypoplasia type 1A	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 197158758.	NM_003384.3(VRK1):c.729T>C (p.Asp243=) GRCh37: Chr14:97322486 GRCh38: Chr14:96856149	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 197038059.	NM_003384.3(VRK1):c.1144dup (p.Glu382fs) GRCh37: Chr14:97342440-97342441 GRCh38: Chr14:96876103-96876104	VRK1	E382fs	Pontocerebellar hypoplasia type 1A	Pathogenic (Oct 15, 2022)	criteria provided, single submitter
Select item 195426560.	NM_003384.3(VRK1):c.469C>T (p.Leu157=) GRCh37: Chr14:97319262 GRCh38: Chr14:96852925	VRK1		Pontocerebellar hypoplasia type 1A	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 195220261.	NM_003384.3(VRK1):c.609G>A (p.Arg203=) GRCh37: Chr14:97321593 GRCh38: Chr14:96855256	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 194201162.	NM_003384.3(VRK1):c.890-10A>G GRCh37: Chr14:97326884 GRCh38: Chr14:96860547	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 192526163.	NM_003384.3(VRK1):c.577-5T>C GRCh37: Chr14:97321556 GRCh38: Chr14:96855219	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 192339064.	NM_003384.3(VRK1):c.375-14A>G GRCh37: Chr14:97319154 GRCh38: Chr14:96852817	VRK1		Pontocerebellar hypoplasia type 1A	Benign (Sep 28, 2022)	criteria provided, single submitter
Select item 192002265.	NM_003384.3(VRK1):c.1172G>C (p.Arg391Thr) GRCh37: Chr14:97347526 GRCh38: Chr14:96881189	VRK1	R391T, R415T, R390T	Pontocerebellar hypoplasia type 1A	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 191614666.	NM_003384.3(VRK1):c.484-15A>T GRCh37: Chr14:97319396 GRCh38: Chr14:96853059	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 191531267.	NM_003384.3(VRK1):c.709+17G>A GRCh37: Chr14:97321710 GRCh38: Chr14:96855373	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 191342968.	NM_003384.3(VRK1):c.669C>T (p.Gly223=) GRCh37: Chr14:97321653 GRCh38: Chr14:96855316	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 191073369.	NM_003384.3(VRK1):c.120A>G (p.Gly40=) GRCh37: Chr14:97299928 GRCh38: Chr14:96833591	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 178940170.	NM_003384.3(VRK1):c.230A>G (p.Asn77Ser) GRCh37: Chr14:97312445 GRCh38: Chr14:96846108	VRK1	N77S	Pontocerebellar hypoplasia type 1A, Inborn genetic diseases	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178378171.	NM_003384.3(VRK1):c.197C>T (p.Ala66Val) GRCh37: Chr14:97304135 GRCh38: Chr14:96837798	VRK1	A66V	Pontocerebellar hypoplasia type 1A, Inborn genetic diseases	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174927872.	NM_003384.3(VRK1):c.571G>A (p.Asp191Asn) GRCh37: Chr14:97319498 GRCh38: Chr14:96853161	VRK1	D191N	Inborn genetic diseases, Pontocerebellar hypoplasia type 1A	Uncertain significance (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171518273.	NM_003384.3(VRK1):c.1066A>G (p.Lys356Glu) GRCh37: Chr14:97327070 GRCh38: Chr14:96860733	VRK1	K356E	Pontocerebellar hypoplasia type 1A	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 168520974.	NM_003384.3(VRK1):c.452G>A (p.Arg151Gln) GRCh37: Chr14:97319245 GRCh38: Chr14:96852908	VRK1	R151Q	not specified, Pontocerebellar hypoplasia type 1A	Uncertain significance (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167148975.	NM_003384.3(VRK1):c.577-18del GRCh37: Chr14:97321542 GRCh38: Chr14:96855205	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 166710276.	NM_003384.3(VRK1):c.710-9C>A GRCh37: Chr14:97322458 GRCh38: Chr14:96856121	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Aug 1, 2021)	criteria provided, single submitter
Select item 166625277.	NM_003384.3(VRK1):c.286+20T>C GRCh37: Chr14:97312521 GRCh38: Chr14:96846184	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 166228578.	NM_003384.3(VRK1):c.1160-8del GRCh37: Chr14:97347502 GRCh38: Chr14:96881165	VRK1		Pontocerebellar hypoplasia type 1A	Benign (Sep 10, 2021)	criteria provided, single submitter
Select item 165386179.	NM_003384.3(VRK1):c.381G>A (p.Arg127=) GRCh37: Chr14:97319174 GRCh38: Chr14:96852837	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Jun 26, 2021)	criteria provided, single submitter
Select item 165129080.	NM_003384.3(VRK1):c.1038T>C (p.Asn346=) GRCh37: Chr14:97327042 GRCh38: Chr14:96860705	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Dec 31, 2020)	criteria provided, single submitter
Select item 165111681.	NM_003384.3(VRK1):c.726T>C (p.Gly242=) GRCh37: Chr14:97322483 GRCh38: Chr14:96856146	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 165098682.	NM_003384.3(VRK1):c.462C>A (p.Val154=) GRCh37: Chr14:97319255 GRCh38: Chr14:96852918	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Apr 20, 2021)	criteria provided, single submitter
Select item 164846983.	NM_003384.3(VRK1):c.39C>T (p.Ser13=) GRCh37: Chr14:97299847 GRCh38: Chr14:96833510	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Apr 27, 2022)	criteria provided, single submitter
Select item 164812984.	NM_003384.3(VRK1):c.312G>A (p.Lys104=) GRCh37: Chr14:97313619 GRCh38: Chr14:96847282	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Aug 26, 2021)	criteria provided, single submitter
Select item 164738185.	NM_003384.3(VRK1):c.684G>A (p.Thr228=) GRCh37: Chr14:97321668 GRCh38: Chr14:96855331	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Nov 2, 2020)	criteria provided, single submitter
Select item 164403486.	NM_003384.3(VRK1):c.831-9T>C GRCh37: Chr14:97322856 GRCh38: Chr14:96856519	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Mar 29, 2021)	criteria provided, single submitter
Select item 163725787.	NM_003384.3(VRK1):c.375-10T>C GRCh37: Chr14:97319158 GRCh38: Chr14:96852821	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Apr 9, 2021)	criteria provided, single submitter
Select item 163584188.	NM_003384.3(VRK1):c.710-15C>G GRCh37: Chr14:97322452 GRCh38: Chr14:96856115	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 163161989.	NM_003384.3(VRK1):c.483+8A>G GRCh37: Chr14:97319284 GRCh38: Chr14:96852947	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Nov 4, 2021)	criteria provided, single submitter
Select item 162901890.	NM_003384.3(VRK1):c.456A>G (p.Lys152=) GRCh37: Chr14:97319249 GRCh38: Chr14:96852912	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Jan 26, 2021)	criteria provided, single submitter
Select item 162705291.	NM_003384.3(VRK1):c.549T>C (p.Leu183=) GRCh37: Chr14:97319476 GRCh38: Chr14:96853139	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Jan 13, 2021)	criteria provided, single submitter
Select item 162669392.	NM_003384.3(VRK1):c.72A>C (p.Ala24=) GRCh37: Chr14:97299880 GRCh38: Chr14:96833543	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Apr 20, 2021)	criteria provided, single submitter
Select item 162519093.	NM_003384.3(VRK1):c.483+20_483+22del GRCh37: Chr14:97319291-97319293 GRCh38: Chr14:96852954-96852956	VRK1		Pontocerebellar hypoplasia type 1A	Benign (Sep 29, 2022)	criteria provided, single submitter
Select item 162440994.	NM_003384.3(VRK1):c.1149C>T (p.Ala383=) GRCh37: Chr14:97342447 GRCh38: Chr14:96876110	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Nov 10, 2021)	criteria provided, single submitter
Select item 162357595.	NM_003384.3(VRK1):c.459T>C (p.Thr153=) GRCh37: Chr14:97319252 GRCh38: Chr14:96852915	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Nov 26, 2021)	criteria provided, single submitter
Select item 162046496.	NM_003384.3(VRK1):c.636A>G (p.Glu212=) GRCh37: Chr14:97321620 GRCh38: Chr14:96855283	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 161388397.	NM_003384.3(VRK1):c.287-4G>T GRCh37: Chr14:97313590 GRCh38: Chr14:96847253	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Nov 22, 2021)	criteria provided, single submitter
Select item 161377398.	NM_003384.3(VRK1):c.710-14T>C GRCh37: Chr14:97322453 GRCh38: Chr14:96856116	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 161332199.	NM_003384.3(VRK1):c.1059A>C (p.Thr353=) GRCh37: Chr14:97327063 GRCh38: Chr14:96860726	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Oct 25, 2021)	criteria provided, single submitter
Select item 1611382100.	NM_003384.3(VRK1):c.216+19A>G GRCh37: Chr14:97304173 GRCh38: Chr14:96837836	VRK1		Pontocerebellar hypoplasia type 1A	Likely benign (Sep 19, 2022)	criteria provided, single submitter

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