ClinVar for MedGen (Select 244030) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16873021.	NM_001201543.2(FAM161A):c.1852-2A>T GRCh37: Chr2:62054395 GRCh38: Chr2:61827260	FAM161A		Retinitis pigmentosa 28	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 14157332.	NM_001201543.2(FAM161A):c.1004G>A (p.Arg335Gln) GRCh37: Chr2:62067135 GRCh38: Chr2:61840000	FAM161A	R335Q	Retinitis pigmentosa 28, not provided	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12139983.	NM_001201543.2(FAM161A):c.1095T>G (p.Tyr365Ter) GRCh37: Chr2:62067044 GRCh38: Chr2:61839909	FAM161A	Y365*	Retinitis pigmentosa 28	Pathogenic (Jun 11, 2021)	criteria provided, single submitter
Select item 11848004.	NM_001201543.2(FAM161A):c.184-33G>A GRCh37: Chr2:62069528 GRCh38: Chr2:61842393	FAM161A		Retinitis pigmentosa 28	Benign (Jul 10, 2021)	criteria provided, single submitter
Select item 11709195.	NM_001201543.2(FAM161A):c.1665G>A (p.Leu555=) GRCh37: Chr2:62065759 GRCh38: Chr2:61838624	FAM161A		not provided, Retinitis pigmentosa 28	Benign/Likely benign (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11301866.	NM_001201543.2(FAM161A):c.246T>C (p.Phe82=) GRCh37: Chr2:62069433 GRCh38: Chr2:61842298	FAM161A		not provided	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 11259617.	NM_001201543.2(FAM161A):c.1473G>A (p.Leu491=) GRCh37: Chr2:62066666 GRCh38: Chr2:61839531	FAM161A		not provided	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 11102698.	NM_001201543.2(FAM161A):c.678G>A (p.Arg226=) GRCh37: Chr2:62067461 GRCh38: Chr2:61840326	FAM161A		not provided	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 10948529.	NM_001201543.2(FAM161A):c.171C>T (p.Pro57=) GRCh37: Chr2:62081006 GRCh38: Chr2:61853871	FAM161A, LOC129933843		not provided	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 106871110.	NM_001201543.2(FAM161A):c.1849C>T (p.Gln617Ter) GRCh37: Chr2:62063147 GRCh38: Chr2:61836012	FAM161A	Q561, Q617	Retinitis pigmentosa 28, not provided	Pathogenic/Likely pathogenic (Nov 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 106573711.	NM_001201543.2(FAM161A):c.1490C>G (p.Ser497Ter) GRCh37: Chr2:62066649 GRCh38: Chr2:61839514	FAM161A	S497*	Retinitis pigmentosa 28, not provided	Pathogenic/Likely pathogenic (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106320412.	NM_001201543.2(FAM161A):c.716C>T (p.Pro239Leu) GRCh37: Chr2:62067423 GRCh38: Chr2:61840288	FAM161A	P239L	not provided	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 105713413.	NM_001201543.2(FAM161A):c.1668G>C (p.Gln556His) GRCh37: Chr2:62065756 GRCh38: Chr2:61838621	FAM161A	Q556H	not provided	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 105379714.	NM_001201543.2(FAM161A):c.1967A>T (p.Asn656Ile) GRCh37: Chr2:62054278 GRCh38: Chr2:61827143	FAM161A	N600I, N656I	not provided	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 105225515.	NM_001201543.2(FAM161A):c.775A>G (p.Lys259Glu) GRCh37: Chr2:62067364 GRCh38: Chr2:61840229	FAM161A	K259E	not provided	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 104494816.	NM_001201543.2(FAM161A):c.1907G>A (p.Gly636Glu) GRCh37: Chr2:62054338 GRCh38: Chr2:61827203	FAM161A	G580E, G636E	not provided	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 104176217.	NM_001201543.2(FAM161A):c.302A>G (p.Glu101Gly) GRCh37: Chr2:62069377 GRCh38: Chr2:61842242	FAM161A	E101G	not provided	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 103795418.	NM_001201543.2(FAM161A):c.423-5T>C GRCh37: Chr2:62067721 GRCh38: Chr2:61840586	FAM161A		not provided	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 102506419.	NM_001201543.2(FAM161A):c.1012C>T (p.Arg338Trp) GRCh37: Chr2:62067127 GRCh38: Chr2:61839992	FAM161A	R338W	not provided	Uncertain significance (Nov 8, 2021)	criteria provided, single submitter
Select item 101902920.	NM_001201543.2(FAM161A):c.1459C>T (p.Arg487Cys) GRCh37: Chr2:62066680 GRCh38: Chr2:61839545	FAM161A	R487C	not provided	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 101428921.	NM_001201543.2(FAM161A):c.1401T>G (p.Ile467Met) GRCh37: Chr2:62066738 GRCh38: Chr2:61839603	FAM161A	I467M	not provided	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 101428022.	NM_001201543.2(FAM161A):c.122C>T (p.Ala41Val) GRCh37: Chr2:62081055 GRCh38: Chr2:61853920	FAM161A, LOC129933843	A41V	not provided	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 101007123.	NM_001201543.2(FAM161A):c.1688C>G (p.Ala563Gly) GRCh37: Chr2:62065736 GRCh38: Chr2:61838601	FAM161A	A563G	not provided	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 100945124.	NM_001201543.2(FAM161A):c.595A>G (p.Ile199Val) GRCh37: Chr2:62067544 GRCh38: Chr2:61840409	FAM161A	I199V	not provided	Uncertain significance (Jan 13, 2022)	criteria provided, single submitter
Select item 100211625.	NM_001201543.2(FAM161A):c.704C>A (p.Thr235Lys) GRCh37: Chr2:62067435 GRCh38: Chr2:61840300	FAM161A	T235K	not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Feb 10, 2022)	criteria provided, conflicting interpretations
Select item 100026826.	NM_001201543.2(FAM161A):c.1111G>T (p.Asp371Tyr) GRCh37: Chr2:62067028 GRCh38: Chr2:61839893	FAM161A	D371Y	not provided	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 99163927.	NM_001201543.2(FAM161A):c.149A>G (p.Glu50Gly) GRCh37: Chr2:62081028 GRCh38: Chr2:61853893	FAM161A, LOC129933843	E50G	Retinitis pigmentosa 28	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99163828.	NM_001201543.2(FAM161A):c.516C>G (p.Ser172=) GRCh37: Chr2:62067623 GRCh38: Chr2:61840488	FAM161A		not provided	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 99163729.	NM_001201543.2(FAM161A):c.867A>G (p.Ala289=) GRCh37: Chr2:62067272 GRCh38: Chr2:61840137	FAM161A		not provided	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 99163630.	NM_001201543.2(FAM161A):c.972A>T (p.Pro324=) GRCh37: Chr2:62067167 GRCh38: Chr2:61840032	FAM161A		not provided	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 99163531.	NM_001201543.2(FAM161A):c.1064T>G (p.Phe355Cys) GRCh37: Chr2:62067075 GRCh38: Chr2:61839940	FAM161A	F355C	Retinitis pigmentosa 28	Uncertain significance (Aug 21, 2020)	no assertion criteria provided
Select item 99163432.	NM_001201543.2(FAM161A):c.1097G>T (p.Gly366Val) GRCh37: Chr2:62067042 GRCh38: Chr2:61839907	FAM161A	G366V	Retinitis pigmentosa 28	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 99131233.	NM_001201543.2(FAM161A):c.1238A>C (p.Glu413Ala) GRCh37: Chr2:62066901 GRCh38: Chr2:61839766	FAM161A	E413A	Retinitis pigmentosa 28	Uncertain significance (Aug 21, 2020)	no assertion criteria provided
Select item 99131134.	NM_001201543.2(FAM161A):c.1356A>G (p.Thr452=) GRCh37: Chr2:62066783 GRCh38: Chr2:61839648	FAM161A		Retinitis pigmentosa 28	Uncertain significance (Aug 21, 2020)	no assertion criteria provided
Select item 99131035.	NM_001201543.2(FAM161A):c.1483C>T (p.Arg495Cys) GRCh37: Chr2:62066656 GRCh38: Chr2:61839521	FAM161A	R495C	not provided	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 99130936.	NM_001201543.2(FAM161A):c.1484G>A (p.Arg495His) GRCh37: Chr2:62066655 GRCh38: Chr2:61839520	FAM161A	R495H	Retinitis pigmentosa 28, not provided	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99130837.	NM_001201543.2(FAM161A):c.1576G>A (p.Ala526Thr) GRCh37: Chr2:62066563 GRCh38: Chr2:61839428	FAM161A	A526T	not provided	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 99130738.	NM_001201543.2(FAM161A):c.1804G>A (p.Glu602Lys) GRCh37: Chr2:62063192 GRCh38: Chr2:61836057	FAM161A	E546K, E602K	Retinitis pigmentosa 28	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 99130639.	NM_001201543.2(FAM161A):c.1815A>T (p.Leu605Phe) GRCh37: Chr2:62063181 GRCh38: Chr2:61836046	FAM161A	L549F, L605F	not provided	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 99130540.	NM_001201543.2(FAM161A):c.1966A>G (p.Asn656Asp) GRCh37: Chr2:62054279 GRCh38: Chr2:61827144	FAM161A	N600D, N656D	not provided	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 99130441.	NM_001201543.2(FAM161A):c.2080G>C (p.Asp694His) GRCh37: Chr2:62053661 GRCh38: Chr2:61826526	FAM161A	D638H, D694H	Retinitis pigmentosa 28	Uncertain significance (Aug 21, 2020)	no assertion criteria provided
Select item 97008642.	NM_001201543.2(FAM161A):c.1787G>A (p.Arg596Gln) GRCh37: Chr2:62063209 GRCh38: Chr2:61836074	FAM161A	R540Q, R596Q	Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Nov 17, 2022)	criteria provided, conflicting interpretations
Select item 96982143.	NM_001201543.2(FAM161A):c.590A>G (p.Glu197Gly) GRCh37: Chr2:62067549 GRCh38: Chr2:61840414	FAM161A	E197G	Inborn genetic diseases, not provided	Uncertain significance (Apr 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 96936744.	NM_001201543.2(FAM161A):c.1759G>A (p.Glu587Lys) GRCh37: Chr2:62063237 GRCh38: Chr2:61836102	FAM161A	E587K, E531K	Inborn genetic diseases, Retinitis pigmentosa 28, not provided	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96827945.	NM_001201543.2(FAM161A):c.1851+4G>A GRCh37: Chr2:62063141 GRCh38: Chr2:61836006	FAM161A		not provided	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 96827846.	NM_001201543.2(FAM161A):c.148GAG[2] (p.Glu52del) GRCh37: Chr2:62081021-62081023 GRCh38: Chr2:61853886-61853888	FAM161A, LOC129933843	E52del	not provided	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 96679347.	NM_001201543.2(FAM161A):c.1219A>G (p.Arg407Gly) GRCh37: Chr2:62066920 GRCh38: Chr2:61839785	FAM161A	R407G	not provided	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 96559748.	NM_001201543.2(FAM161A):c.1821G>C (p.Lys607Asn) GRCh37: Chr2:62063175 GRCh38: Chr2:61836040	FAM161A	K551N, K607N	not provided	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 96538649.	NM_001201543.2(FAM161A):c.698T>C (p.Val233Ala) GRCh37: Chr2:62067441 GRCh38: Chr2:61840306	FAM161A	V233A	Inborn genetic diseases, not provided	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96527650.	NM_001201543.2(FAM161A):c.1968_1969insTGA (p.Asn657Ter) GRCh37: Chr2:62054276-62054277 GRCh38: Chr2:61827141-61827142	FAM161A	N601, N657	not provided	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 96245251.	NM_001201543.2(FAM161A):c.86A>G (p.Gln29Arg) GRCh37: Chr2:62081091 GRCh38: Chr2:61853956	FAM161A, LOC129933843	Q29R	not provided	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 96161252.	NM_001201543.2(FAM161A):c.1684C>T (p.Arg562Trp) GRCh37: Chr2:62065740 GRCh38: Chr2:61838605	FAM161A	R562W	not provided	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 95508053.	NM_001201543.2(FAM161A):c.82G>A (p.Ala28Thr) GRCh37: Chr2:62081095 GRCh38: Chr2:61853960	FAM161A, LOC129933843	A28T	not provided	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 95349854.	NM_001201543.2(FAM161A):c.1584-2A>G GRCh37: Chr2:62065842 GRCh38: Chr2:61838707	FAM161A		not provided	Likely pathogenic (Oct 17, 2019)	criteria provided, single submitter
Select item 95083755.	NM_001201543.2(FAM161A):c.277G>T (p.Glu93Ter) GRCh37: Chr2:62069402 GRCh38: Chr2:61842267	FAM161A	E93*	Retinitis pigmentosa 28, not provided	Pathogenic/Likely pathogenic (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94882456.	NM_001201543.2(FAM161A):c.1628G>A (p.Arg543Gln) GRCh37: Chr2:62065796 GRCh38: Chr2:61838661	FAM161A	R543Q	not provided	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 93928757.	NM_001201543.2(FAM161A):c.721C>A (p.Pro241Thr) GRCh37: Chr2:62067418 GRCh38: Chr2:61840283	FAM161A	P241T	not provided	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 93688558.	NM_001201543.2(FAM161A):c.1136A>G (p.Tyr379Cys) GRCh37: Chr2:62067003 GRCh38: Chr2:61839868	FAM161A	Y379C	Inborn genetic diseases, not provided	Uncertain significance (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93394859.	NM_001201543.2(FAM161A):c.1979C>T (p.Thr660Met) GRCh37: Chr2:62054266 GRCh38: Chr2:61827131	FAM161A	T604M, T660M	not provided	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 93058960.	NM_001201543.2(FAM161A):c.294del (p.Lys98_Val99insTer) GRCh37: Chr2:62069385 GRCh38: Chr2:61842250	FAM161A		Retinitis pigmentosa 28, not provided	Pathogenic/Likely pathogenic (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89870661.	NM_001201543.2(FAM161A):c.1213G>A (p.Gly405Arg) GRCh37: Chr2:62066926 GRCh38: Chr2:61839791	FAM161A	G405R	Retinitis pigmentosa	Uncertain significance (Aug 22, 2017)	criteria provided, single submitter
Select item 89870462.	NM_001201543.2(FAM161A):c.1462T>G (p.Trp488Gly) GRCh37: Chr2:62066677 GRCh38: Chr2:61839542	FAM161A	W488G	Retinitis pigmentosa, not provided	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89601063.	NM_001201543.2(FAM161A):c.982A>G (p.Ile328Val) GRCh37: Chr2:62067157 GRCh38: Chr2:61840022	FAM161A	I328V	not provided, Inborn genetic diseases, Retinitis pigmentosa	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89573064.	NM_001201543.2(FAM161A):c.1018A>G (p.Lys340Glu) GRCh37: Chr2:62067121 GRCh38: Chr2:61839986	FAM161A	K340E	not provided, Retinitis pigmentosa	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89572965.	NM_001201543.2(FAM161A):c.1085G>T (p.Arg362Leu) GRCh37: Chr2:62067054 GRCh38: Chr2:61839919	FAM161A	R362L	Inborn genetic diseases, not provided, Retinitis pigmentosa	Uncertain significance (Aug 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86380966.	NM_001201543.2(FAM161A):c.598A>G (p.Asn200Asp) GRCh37: Chr2:62067541 GRCh38: Chr2:61840406	FAM161A	N200D	not provided	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 85845967.	NM_001201543.2(FAM161A):c.2011A>G (p.Asn671Asp) GRCh37: Chr2:62053730 GRCh38: Chr2:61826595	FAM161A	N615D, N671D	not provided	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 85631468.	NM_001201543.2(FAM161A):c.1061G>A (p.Arg354Gln) GRCh37: Chr2:62067078 GRCh38: Chr2:61839943	FAM161A	R354Q	not provided, Inborn genetic diseases	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85486469.	NM_001201543.2(FAM161A):c.182C>T (p.Ser61Leu) GRCh37: Chr2:62080995 GRCh38: Chr2:61853860	FAM161A, LOC129933843	S61L	not provided	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 85393770.	NM_001201543.2(FAM161A):c.1579G>T (p.Val527Leu) GRCh37: Chr2:62066560 GRCh38: Chr2:61839425	FAM161A	V527L	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 84948571.	NM_001201543.2(FAM161A):c.686G>A (p.Arg229Gln) GRCh37: Chr2:62067453 GRCh38: Chr2:61840318	FAM161A	R229Q	not provided	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 84058672.	NM_001201543.2(FAM161A):c.422+3A>T GRCh37: Chr2:62069254 GRCh38: Chr2:61842119	FAM161A		not provided	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 82806573.	NM_001201543.2(FAM161A):c.943A>T (p.Lys315Ter) GRCh37: Chr2:62067196 GRCh38: Chr2:61840061	FAM161A	K315*	Retinitis pigmentosa 28	Pathogenic (Mar 26, 2020)	no assertion criteria provided
Select item 81232274.	NM_001201543.2(FAM161A):c.1321dup (p.His441fs) GRCh37: Chr2:62066817-62066818 GRCh38: Chr2:61839682-61839683	FAM161A	H441fs	Inborn genetic diseases, not provided, Retinitis pigmentosa 28	Pathogenic (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81199275.	NM_001201543.2(FAM161A):c.1328C>T (p.Ser443Leu) GRCh37: Chr2:62066811 GRCh38: Chr2:61839676	FAM161A	S443L	Retinitis pigmentosa 28, not provided	Uncertain significance (Sep 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80875376.	NM_001201543.2(FAM161A):c.494A>G (p.Gln165Arg) GRCh37: Chr2:62067645 GRCh38: Chr2:61840510	FAM161A	Q165R	Retinitis pigmentosa, Inborn genetic diseases, not provided	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 79869777.	NM_001201543.2(FAM161A):c.720G>A (p.Glu240=) GRCh37: Chr2:62067419 GRCh38: Chr2:61840284	FAM161A		not provided	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 79237278.	NM_001201543.2(FAM161A):c.228G>A (p.Pro76=) GRCh37: Chr2:62069451 GRCh38: Chr2:61842316	FAM161A		not provided	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 76481479.	NM_001201543.2(FAM161A):c.1602G>A (p.Lys534=) GRCh37: Chr2:62065822 GRCh38: Chr2:61838687	FAM161A		not provided	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 73853480.	NM_001201543.2(FAM161A):c.337T>C (p.Leu113=) GRCh37: Chr2:62069342 GRCh38: Chr2:61842207	FAM161A		not provided	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 73542881.	NM_001201543.2(FAM161A):c.252C>T (p.Asn84=) GRCh37: Chr2:62069427 GRCh38: Chr2:61842292	FAM161A		not provided	Benign (Oct 14, 2022)	criteria provided, single submitter
Select item 72851982.	NM_001201543.2(FAM161A):c.1044T>C (p.Tyr348=) GRCh37: Chr2:62067095 GRCh38: Chr2:61839960	FAM161A		not provided, Retinitis pigmentosa	Conflicting interpretations of pathogenicity (Oct 8, 2022)	criteria provided, conflicting interpretations
Select item 71800483.	NM_001201543.2(FAM161A):c.1959G>T (p.Glu653Asp) GRCh37: Chr2:62054286 GRCh38: Chr2:61827151	FAM161A	E597D, E653D	Retinitis pigmentosa 28, not provided, Retinitis pigmentosa	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71590384.	NM_001201543.2(FAM161A):c.817G>A (p.Glu273Lys) GRCh37: Chr2:62067322 GRCh38: Chr2:61840187	FAM161A	E273K	not provided, Retinitis pigmentosa	Conflicting interpretations of pathogenicity (Nov 4, 2022)	criteria provided, conflicting interpretations
Select item 71495785.	NM_001201543.2(FAM161A):c.1551G>A (p.Thr517=) GRCh37: Chr2:62066588 GRCh38: Chr2:61839453	FAM161A		not provided	Benign (Oct 24, 2022)	criteria provided, single submitter
Select item 55390486.	NM_001201543.2(FAM161A):c.2121AGA[1] (p.Glu709del) GRCh37: Chr2:62053615-62053617 GRCh38: Chr2:61826480-61826482	FAM161A	E709del, E653del	Retinitis pigmentosa 28, not provided	Uncertain significance (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55242987.	NM_001201543.2(FAM161A):c.1501del (p.Cys501fs) GRCh37: Chr2:62066638 GRCh38: Chr2:61839503	FAM161A	C501fs	Retinal dystrophy, Retinitis pigmentosa 28, not provided	Pathogenic/Likely pathogenic (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55234888.	NM_001201543.2(FAM161A):c.1584-11G>A GRCh37: Chr2:62065851 GRCh38: Chr2:61838716	FAM161A		Retinitis pigmentosa 28, not provided	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55091689.	NM_001201543.2(FAM161A):c.1946_1947del (p.Gly649fs) GRCh37: Chr2:62054298-62054299 GRCh38: Chr2:61827163-61827164	FAM161A	G649fs, G593fs	Retinitis pigmentosa 28, not provided	Conflicting interpretations of pathogenicity (Aug 12, 2022)	criteria provided, conflicting interpretations
Select item 54686490.	NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter) GRCh37: Chr2:62067292 GRCh38: Chr2:61840157	FAM161A	R283*	Retinitis pigmentosa 28, not provided, Retinitis pigmentosa	Pathogenic/Likely pathogenic (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49793491.	NM_001201543.2(FAM161A):c.1003C>T (p.Arg335Ter) GRCh37: Chr2:62067136 GRCh38: Chr2:61840001	FAM161A	R335*	Retinitis pigmentosa 28, not provided	Pathogenic (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33674792.	NM_032180.2(FAM161A):c.-41T>C GRCh37: Chr2:62081217 GRCh38: Chr2:61854082	FAM161A		Retinitis pigmentosa, Retinitis pigmentosa 28	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33674493.	NM_001201543.2(FAM161A):c.321A>G (p.Ile107Met) GRCh37: Chr2:62069358 GRCh38: Chr2:61842223	FAM161A	I107M	Retinitis pigmentosa, Retinitis pigmentosa 28, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33674294.	NM_001201543.2(FAM161A):c.706A>G (p.Ile236Val) GRCh37: Chr2:62067433 GRCh38: Chr2:61840298	FAM161A	I236V	Retinitis pigmentosa 28, Retinitis pigmentosa, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33674095.	NM_001201543.2(FAM161A):c.916C>T (p.Arg306Trp) GRCh37: Chr2:62067223 GRCh38: Chr2:61840088	FAM161A	R306W	Retinitis pigmentosa, not provided	Uncertain significance (Sep 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33673896.	NM_001201543.2(FAM161A):c.1270G>A (p.Val424Ile) GRCh37: Chr2:62066869 GRCh38: Chr2:61839734	FAM161A	V424I	Inborn genetic diseases, not provided, Retinitis pigmentosa	Uncertain significance (Jan 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 33673597.	NM_001201543.2(FAM161A):c.1971T>G (p.Asn657Lys) GRCh37: Chr2:62054274 GRCh38: Chr2:61827139	FAM161A	N657K, N601K	Retinitis pigmentosa, not provided	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33673498.	NM_001201543.2(FAM161A):c.1989C>T (p.Val663=) GRCh37: Chr2:62054256 GRCh38: Chr2:61827121	FAM161A		Retinitis pigmentosa, not provided	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 33673399.	NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=) GRCh37: Chr2:62053677 GRCh38: Chr2:61826542	FAM161A		not provided, Retinitis pigmentosa, Retinitis pigmentosa 28	Conflicting interpretations of pathogenicity (Dec 1, 2022)	criteria provided, conflicting interpretations
Select item 236499100.	NM_001201543.2(FAM161A):c.1464G>A (p.Trp488Ter) GRCh37: Chr2:62066675 GRCh38: Chr2:61839540	FAM161A	W488*	not provided	Pathogenic (Jul 14, 2022)	criteria provided, single submitter

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