147912[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1473831.	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3 GRCh37: Chr19:45474677-48760659 GRCh38: Chr19:44971420-48257402	AP2S1, ARHGAP35, BBC3, BICRA, BLOC1S3, BSPH1, C5AR1, C5AR2, CABP5, CALM3, CARD8, CARD8-AS1, CCDC61, CCDC8, CCDC9, CKM, CLASRP, CLPTM1, CRX, DACT3, DACT3-AS1, DHX34, DM1-AS, DMPK, DMWD, EHD2, ELSPBP1, EML2, EML2-AS1, ERCC1, ERCC2, EXOC3L2, FBXO46, FKRP, FOSB, FOXA3, GEMIN7, GEMIN7-AS1, GIPR, GNG8, GPR4, HIF3A, IGFL1, IGFL2, IGFL2-AS1, IGFL3, IGFL4, INAFM1, IRF2BP1, KLC3, KPTN, LIG1, LINC01595, LOC105372421, LOC105372424, LOC107075317, LOC108004523, LOC109461477, LOC111365212, LOC111413034, LOC112552159, LOC112552160, LOC112552161, LOC112552162, LOC112552164, LOC112552165, LOC112552166, LOC112552167, LOC116286190, LOC116286191, LOC121627879, LOC121627880, LOC121627881, LOC121627882, LOC121627883, LOC121852989, LOC121852990, LOC125371527, LOC125371528, LOC125371529, LOC125371530, LOC125371531, LOC125371532, LOC125371533, LOC125371534, LOC125371535, LOC125371536, LOC125371537, LOC125371538, LOC125371539, LOC125371540, LOC126862913, LOC126862914, LOC126862915, LOC126862916, LOC126862917, LOC126862918, LOC126862919, LOC126862920, LOC93429, MARK4, MEIOSIN, MEIS3, MIR3190, MIR3191, MIR320E, MIR330, MIR6088, MIR642A, MIR642B, MIR769, MYPOP, NANOS2, NAPA, NAPA-AS1, NKPD1, NOP53, NOP53-AS1, NOVA2, NPAS1, OPA3, PGLYRP1, PLA2G4C, PLA2G4C-AS1, PNMA8A, PNMA8B, PNMA8C, POLR1G, PPM1N, PPP1R13L, PPP1R37, PPP5C, PPP5D1, PRKD2, PTGIR, QPCTL, RELB, RSPH6A, RTN2, SAE1, SELENOW, SIX5, SLC1A5, SLC8A2, SNAR-A1, SNAR-A12, SNAR-A13, SNAR-A2, SNAR-A3, SNAR-C1, SNAR-C2, SNAR-C3, SNAR-C4, SNAR-C5, SNAR-E, SNORD23, SNRPD2, STRN4, SULT2A1, SYMPK, TMEM160, TPRX1, TPRX2, TRAPPC6A, TRU-TCA1-1, VASP, ZC3H4, ZNF296, ZNF541, ZSWIM9		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 1487662.	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1 GRCh37: Chr19:45890647-47334257 GRCh38: Chr19:45387389-46831000	CALM3, CCDC61, CCDC8, DACT3, DACT3-AS1, DM1-AS, DMPK, DMWD, EML2, EML2-AS1, ERCC1, FBXO46, FKRP, FOSB, FOXA3, GIPR, GNG8, GPR4, HIF3A, IGFL1, IGFL2, IGFL2-AS1, IGFL3, IGFL4, IRF2BP1, LOC105372421, LOC105372424, LOC107075317, LOC109461477, LOC111365212, LOC111413034, LOC112552159, LOC112552160, LOC112552161, LOC112552162, LOC121627880, LOC121627881, LOC125371531, LOC125371532, LOC125371533, LOC125371534, LOC125371535, LOC125371536, LOC126862913, LOC126862914, LOC126862915, LOC126862916, LOC126862917, LOC126862918, LOC93429, MEIOSIN, MIR320E, MIR330, MIR6088, MIR642A, MIR642B, MIR769, MYPOP, NANOS2, NOVA2, OPA3, PGLYRP1, PNMA8A, PNMA8B, PNMA8C, POLR1G, PPM1N, PPP1R13L, PPP5C, PPP5D1, PRKD2, PTGIR, QPCTL, RSPH6A, RTN2, SIX5, SLC1A5, SNAR-E, SNRPD2, STRN4, SYMPK, TRU-TCA1-1, VASP		See cases	Likely pathogenic (Jan 13, 2012)	no assertion criteria provided
Select item 570973.	GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1 GRCh37: Chr19:46099131-47103283 GRCh38: Chr19:45595873-46600026	CCDC61, CCDC8, DM1-AS, DMPK, DMWD, EML2, EML2-AS1, FBXO46, FOXA3, GIPR, GPR4, HIF3A, IGFL1, IGFL2, IGFL2-AS1, IGFL3, IGFL4, IRF2BP1, LOC105372421, LOC105372424, LOC107075317, LOC109461477, LOC111365212, LOC111413034, LOC112552160, LOC112552161, LOC121627880, LOC121627881, LOC125371531, LOC125371532, LOC125371533, LOC125371534, LOC126862913, LOC126862914, LOC126862915, LOC126862916, LOC93429, MEIOSIN, MIR330, MIR642A, MIR642B, MIR769, MYPOP, NANOS2, NOVA2, PGLYRP1, PNMA8A, PNMA8B, PNMA8C, PPP5C, PPP5D1, QPCTL, RSPH6A, SIX5, SNRPD2, SYMPK		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 12717374.	NM_175875.5(SIX5):c.*331C>T GRCh37: Chr19:46268428 GRCh38: Chr19:45765170	SIX5		not provided	Benign (Dec 23, 2018)	criteria provided, single submitter
Select item 12406115.	NM_175875.5(SIX5):c.*306G>A GRCh37: Chr19:46268453 GRCh38: Chr19:45765195	SIX5		not provided	Benign (Dec 23, 2018)	criteria provided, single submitter
Select item 13183186.	NM_175875.5(SIX5):c.*161C>G GRCh37: Chr19:46268598 GRCh38: Chr19:45765340	SIX5		not provided	Likely benign (Dec 12, 2018)	criteria provided, single submitter
Select item 13184317.	NM_175875.5(SIX5):c.*105C>T GRCh37: Chr19:46268654 GRCh38: Chr19:45765396	SIX5		not provided	Likely benign (Jun 13, 2018)	criteria provided, single submitter
Select item 12517818.	NM_175875.5(SIX5):c.*45G>A GRCh37: Chr19:46268714 GRCh38: Chr19:45765456	SIX5		not provided	Benign (Jul 5, 2018)	criteria provided, single submitter
Select item 13179099.	NM_175875.5(SIX5):c.*32T>C GRCh37: Chr19:46268727 GRCh38: Chr19:45765469	SIX5		not provided	Likely benign (Sep 23, 2018)	criteria provided, single submitter
Select item 166212610.	NM_175875.5(SIX5):c.2215C>T (p.Leu739=) GRCh37: Chr19:46268764 GRCh38: Chr19:45765506	SIX5		not provided	Likely benign (Jun 22, 2021)	criteria provided, single submitter
Select item 193383311.	NM_175875.5(SIX5):c.2203G>C (p.Glu735Gln) GRCh37: Chr19:46268776 GRCh38: Chr19:45765518	SIX5	E735Q	not provided	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 199103412.	NM_175875.5(SIX5):c.2193G>T (p.Val731=) GRCh37: Chr19:46268786 GRCh38: Chr19:45765528	SIX5		not provided	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 131572313.	NM_175875.5(SIX5):c.2189C>T (p.Ser730Leu) GRCh37: Chr19:46268790 GRCh38: Chr19:45765532	SIX5	S730L	not provided	Conflicting interpretations of pathogenicity (Oct 23, 2021)	criteria provided, conflicting interpretations
Select item 232610914.	NM_175875.5(SIX5):c.2177C>G (p.Thr726Ser) GRCh37: Chr19:46268802 GRCh38: Chr19:45765544	SIX5	T726S	Inborn genetic diseases	Uncertain significance (Nov 10, 2022)	criteria provided, single submitter
Select item 51235515.	NM_175875.5(SIX5):c.2173C>T (p.Leu725=) GRCh37: Chr19:46268806 GRCh38: Chr19:45765548	SIX5		Branchiootorenal syndrome 2, not provided	Benign/Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 207117516.	NM_175875.5(SIX5):c.2170G>A (p.Val724Ile) GRCh37: Chr19:46268809 GRCh38: Chr19:45765551	SIX5	V724I	not provided	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 152414817.	NM_175875.5(SIX5):c.2161G>A (p.Glu721Lys) GRCh37: Chr19:46268818 GRCh38: Chr19:45765560	SIX5	E721K	not provided	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 191851018.	NM_175875.5(SIX5):c.2150G>A (p.Gly717Glu) GRCh37: Chr19:46268829 GRCh38: Chr19:45765571	SIX5	G717E	not provided	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 215044519.	NM_175875.5(SIX5):c.2145C>T (p.Asp715=) GRCh37: Chr19:46268834 GRCh38: Chr19:45765576	SIX5		not provided	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 201524920.	NM_175875.5(SIX5):c.2140G>A (p.Val714Ile) GRCh37: Chr19:46268839 GRCh38: Chr19:45765581	SIX5	V714I	not provided	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 199209921.	NM_175875.5(SIX5):c.2098G>A (p.Asp700Asn) GRCh37: Chr19:46268881 GRCh38: Chr19:45765623	SIX5	D700N	not provided	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 208146022.	NM_175875.5(SIX5):c.2097C>T (p.Pro699=) GRCh37: Chr19:46268882 GRCh38: Chr19:45765624	SIX5		not provided	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 253177723.	NM_175875.5(SIX5):c.2095C>T (p.Pro699Ser) GRCh37: Chr19:46268884 GRCh38: Chr19:45765626	SIX5	P699S	Inborn genetic diseases	Uncertain significance (Mar 31, 2023)	criteria provided, single submitter
Select item 26291324.	NM_175875.5(SIX5):c.2077G>A (p.Val693Met) GRCh37: Chr19:46268902 GRCh38: Chr19:45765644	SIX5	V693M	not specified, not provided, Branchiootorenal syndrome 2	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 189871625.	NM_175875.5(SIX5):c.2076C>G (p.Thr692=) GRCh37: Chr19:46268903 GRCh38: Chr19:45765645	SIX5		not provided	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 249303526.	NM_175875.5(SIX5):c.2066C>A (p.Ala689Asp) GRCh37: Chr19:46268913 GRCh38: Chr19:45765655	SIX5	A689D	Inborn genetic diseases	Uncertain significance (Mar 1, 2023)	criteria provided, single submitter
Select item 131765327.	NM_175875.5(SIX5):c.2052G>C (p.Gly684=) GRCh37: Chr19:46268927 GRCh38: Chr19:45765669	SIX5		not provided	Likely benign (Mar 8, 2021)	criteria provided, single submitter
Select item 198484228.	NM_175875.5(SIX5):c.2043G>A (p.Ala681=) GRCh37: Chr19:46268936 GRCh38: Chr19:45765678	SIX5		not provided	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 212389829.	NM_175875.5(SIX5):c.2035C>T (p.Leu679=) GRCh37: Chr19:46268944 GRCh38: Chr19:45765686	SIX5		not provided	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 197893830.	NM_175875.5(SIX5):c.2017G>A (p.Ala673Thr) GRCh37: Chr19:46268962 GRCh38: Chr19:45765704	SIX5	A673T	not provided	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 253677631.	NM_175875.5(SIX5):c.2015G>A (p.Ser672Asn) GRCh37: Chr19:46268964 GRCh38: Chr19:45765706	SIX5	S672N	Inborn genetic diseases	Uncertain significance (Apr 13, 2023)	criteria provided, single submitter
Select item 206534832.	NM_175875.5(SIX5):c.2003G>A (p.Gly668Glu) GRCh37: Chr19:46268976 GRCh38: Chr19:45765718	SIX5	G668E	not provided	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 195873033.	NM_175875.5(SIX5):c.2002G>A (p.Gly668Arg) GRCh37: Chr19:46268977 GRCh38: Chr19:45765719	SIX5	G668R	not provided	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 196046934.	NM_175875.5(SIX5):c.1986G>A (p.Val662=) GRCh37: Chr19:46268993 GRCh38: Chr19:45765735	SIX5		not provided	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 215260635.	NM_175875.5(SIX5):c.1983C>T (p.Ala661=) GRCh37: Chr19:46268996 GRCh38: Chr19:45765738	SIX5		not provided	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 207762636.	NM_175875.5(SIX5):c.1979C>T (p.Ala660Val) GRCh37: Chr19:46269000 GRCh38: Chr19:45765742	SIX5	A660V	not provided	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 170268337.	NM_175875.5(SIX5):c.1979C>A (p.Ala660Glu) GRCh37: Chr19:46269000 GRCh38: Chr19:45765742	SIX5	A660E	not provided	Likely benign (Mar 17, 2021)	criteria provided, single submitter
Select item 126528538.	NM_175875.5(SIX5):c.1978G>A (p.Ala660Thr) GRCh37: Chr19:46269001 GRCh38: Chr19:45765743	SIX5	A660T	not provided	Benign (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 195114539.	NM_175875.5(SIX5):c.1969T>A (p.Leu657Met) GRCh37: Chr19:46269010 GRCh38: Chr19:45765752	SIX5	L657M	not provided	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 70863940.	NM_175875.5(SIX5):c.1963C>T (p.Leu655=) GRCh37: Chr19:46269016 GRCh38: Chr19:45765758	SIX5		not provided, Branchiootorenal syndrome 2	Benign/Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 191109141.	NM_175875.5(SIX5):c.1959G>A (p.Glu653=) GRCh37: Chr19:46269020 GRCh38: Chr19:45765762	SIX5		not provided	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 196394742.	NM_175875.5(SIX5):c.1948C>A (p.Pro650Thr) GRCh37: Chr19:46269031 GRCh38: Chr19:45765773	SIX5	P650T	not provided	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 249550243.	NM_175875.5(SIX5):c.1945G>T (p.Ala649Ser) GRCh37: Chr19:46269034 GRCh38: Chr19:45765776	SIX5	A649S	Inborn genetic diseases	Uncertain significance (Mar 13, 2023)	criteria provided, single submitter
Select item 131622444.	NM_175875.5(SIX5):c.1944G>A (p.Pro648=) GRCh37: Chr19:46269035 GRCh38: Chr19:45765777	SIX5		not provided	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59338945.	NM_175875.5(SIX5):c.1943C>T (p.Pro648Leu) GRCh37: Chr19:46269036 GRCh38: Chr19:45765778	SIX5	P648L	not provided	Conflicting interpretations of pathogenicity (Aug 10, 2020)	criteria provided, conflicting interpretations
Select item 232475646.	NM_175875.5(SIX5):c.1941C>G (p.Phe647Leu) GRCh37: Chr19:46269038 GRCh38: Chr19:45765780	SIX5	F647L	Inborn genetic diseases	Uncertain significance (Nov 8, 2022)	criteria provided, single submitter
Select item 141412047.	NM_175875.5(SIX5):c.1915_1935dup (p.Asp639_Pro645dup) GRCh37: Chr19:46269043-46269044 GRCh38: Chr19:45765785-45765786	SIX5		not provided	Uncertain significance (Sep 25, 2021)	criteria provided, single submitter
Select item 255815948.	NM_175875.5(SIX5):c.1934C>G (p.Pro645Arg) GRCh37: Chr19:46269045 GRCh38: Chr19:45765787	SIX5	P645R	Inborn genetic diseases	Uncertain significance (Jun 6, 2023)	criteria provided, single submitter
Select item 205778749.	NM_175875.5(SIX5):c.1933C>T (p.Pro645Ser) GRCh37: Chr19:46269046 GRCh38: Chr19:45765788	SIX5	P645S	not provided	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 196383250.	NM_175875.5(SIX5):c.1931T>C (p.Leu644Pro) GRCh37: Chr19:46269048 GRCh38: Chr19:45765790	SIX5	L644P	not provided	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 207548551.	NM_175875.5(SIX5):c.1910C>G (p.Ser637Cys) GRCh37: Chr19:46269069 GRCh38: Chr19:45765811	SIX5	S637C	not provided	Uncertain significance (Feb 7, 2022)	criteria provided, single submitter
Select item 26291252.	NM_175875.5(SIX5):c.1903C>T (p.Pro635Ser) GRCh37: Chr19:46269076 GRCh38: Chr19:45765818	SIX5	P635S	not specified, not provided, Branchiootorenal syndrome 2	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152866953.	NM_175875.5(SIX5):c.1887C>G (p.Thr629=) GRCh37: Chr19:46269092 GRCh38: Chr19:45765834	SIX5		not provided	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 146795154.	NM_175875.5(SIX5):c.1876G>A (p.Ala626Thr) GRCh37: Chr19:46269103 GRCh38: Chr19:45765845	SIX5	A626T	Branchiootorenal syndrome 2, not provided	Uncertain significance (Oct 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 219712555.	NM_175875.5(SIX5):c.1875C>T (p.Ala625=) GRCh37: Chr19:46269104 GRCh38: Chr19:45765846	SIX5		not provided	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 73247956.	NM_175875.5(SIX5):c.1873G>A (p.Ala625Thr) GRCh37: Chr19:46269106 GRCh38: Chr19:45765848	SIX5	A625T	not provided	Likely benign (Feb 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206626357.	NM_175875.5(SIX5):c.1872C>A (p.Pro624=) GRCh37: Chr19:46269107 GRCh38: Chr19:45765849	SIX5		not provided	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 80860358.	NM_175875.5(SIX5):c.1871_1872del (p.Pro624fs) GRCh37: Chr19:46269107-46269108 GRCh38: Chr19:45765849-45765850	SIX5	P624fs	not provided	Uncertain significance (Aug 1, 2017)	criteria provided, single submitter
Select item 59472859.	NM_175875.5(SIX5):c.1872C>T (p.Pro624=) GRCh37: Chr19:46269107 GRCh38: Chr19:45765849	SIX5		not provided	Conflicting interpretations of pathogenicity (May 13, 2022)	criteria provided, conflicting interpretations
Select item 80545960.	NM_175875.5(SIX5):c.1852T>C (p.Ser618Pro) GRCh37: Chr19:46269127 GRCh38: Chr19:45765869	SIX5	S618P	not provided, Branchiootorenal syndrome 2	Uncertain significance (Mar 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 210912461.	NM_175875.5(SIX5):c.1849C>T (p.Leu617Phe) GRCh37: Chr19:46269130 GRCh38: Chr19:45765872	SIX5	L617F	not provided	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 136839162.	NM_175875.5(SIX5):c.1838C>G (p.Ala613Gly) GRCh37: Chr19:46269141 GRCh38: Chr19:45765883	SIX5	A613G	not provided	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 82985263.	NM_175875.5(SIX5):c.1802C>T (p.Pro601Leu) GRCh37: Chr19:46269177 GRCh38: Chr19:45765919	SIX5	P601L	Branchiootorenal syndrome 2, not provided	Conflicting interpretations of pathogenicity (Aug 30, 2022)	criteria provided, conflicting interpretations
Select item 48888364.	NM_175875.5(SIX5):c.1789G>T (p.Glu597Ter) GRCh37: Chr19:46269190 GRCh38: Chr19:45765932	SIX5	E597*	not provided	Uncertain significance (Mar 12, 2016)	criteria provided, single submitter
Select item 50816065.	NM_175875.5(SIX5):c.1783G>A (p.Val595Met) GRCh37: Chr19:46269196 GRCh38: Chr19:45765938	SIX5	V595M	not specified, not provided	Benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 128514966.	NM_175875.5(SIX5):c.1773G>T (p.Thr591=) GRCh37: Chr19:46269206 GRCh38: Chr19:45765948	SIX5		not provided, Branchiootorenal syndrome 2	Benign/Likely benign (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 192442267.	NM_175875.5(SIX5):c.1755G>C (p.Leu585=) GRCh37: Chr19:46269224 GRCh38: Chr19:45765966	SIX5		not provided	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 208213468.	NM_175875.5(SIX5):c.1724_1751delinsGCTGCCAGGT (p.Gln575_Ala584delinsArgCysGlnVal) GRCh37: Chr19:46269228-46269255 GRCh38: Chr19:45765970-45765997	SIX5		not provided	Uncertain significance (Jan 13, 2022)	criteria provided, single submitter
Select item 194273769.	NM_175875.5(SIX5):c.1740C>T (p.Ala580=) GRCh37: Chr19:46269239 GRCh38: Chr19:45765981	SIX5		not provided	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 205696270.	NM_175875.5(SIX5):c.1739C>T (p.Ala580Val) GRCh37: Chr19:46269240 GRCh38: Chr19:45765982	SIX5	A580V	not provided	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 217642371.	NM_175875.5(SIX5):c.1717G>C (p.Val573Leu) GRCh37: Chr19:46269262 GRCh38: Chr19:45766004	SIX5	V573L	not provided	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 198152472.	NM_175875.5(SIX5):c.1717G>A (p.Val573Ile) GRCh37: Chr19:46269262 GRCh38: Chr19:45766004	SIX5	V573I	not provided	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 99449573.	NM_175875.5(SIX5):c.1687C>T (p.Leu563Phe) GRCh37: Chr19:46269292 GRCh38: Chr19:45766034	SIX5	L563F	not provided, Branchiootorenal syndrome 2	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 199190874.	NM_175875.5(SIX5):c.1675G>A (p.Gly559Ser) GRCh37: Chr19:46269304 GRCh38: Chr19:45766046	SIX5	G559S	not provided	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 164148875.	NM_175875.5(SIX5):c.1665_1666delinsTG (p.Leu556Val) GRCh37: Chr19:46269313-46269314 GRCh38: Chr19:45766055-45766056	SIX5	L556V	not provided	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 133296976.	NM_175875.5(SIX5):c.1666C>G (p.Leu556Val) GRCh37: Chr19:46269313 GRCh38: Chr19:45766055	SIX5	L556V	Branchiootorenal syndrome 2, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132097577.	NM_175875.5(SIX5):c.1666C>A (p.Leu556Met) GRCh37: Chr19:46269313 GRCh38: Chr19:45766055	SIX5	L556M	not provided	Conflicting interpretations of pathogenicity (Sep 14, 2022)	criteria provided, conflicting interpretations
Select item 76945978.	NM_175875.5(SIX5):c.1666= (p.Leu556=) GRCh37: Chr19:46269313 GRCh38: Chr19:45766055	SIX5		not provided	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 180968879.	NM_175875.5(SIX5):c.1665C>T (p.Ala555=) GRCh37: Chr19:46269314 GRCh38: Chr19:45766056	SIX5		Branchiootorenal syndrome 2	Likely benign (Dec 14, 2021)	criteria provided, single submitter
Select item 70883180.	NM_175875.5(SIX5):c.1656G>A (p.Thr552=) GRCh37: Chr19:46269323 GRCh38: Chr19:45766065	SIX5		not provided	Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 860181.	NM_175875.5(SIX5):c.1655C>T (p.Thr552Met) GRCh37: Chr19:46269324 GRCh38: Chr19:45766066	SIX5	T552M	not provided, Branchiootorenal syndrome 2	Uncertain significance (Apr 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 193533382.	NM_175875.5(SIX5):c.1651G>T (p.Val551Leu) GRCh37: Chr19:46269328 GRCh38: Chr19:45766070	SIX5	V551L	not provided	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 127082083.	NM_175875.5(SIX5):c.1651G>A (p.Val551Met) GRCh37: Chr19:46269328 GRCh38: Chr19:45766070	SIX5	V551M	not provided	Conflicting interpretations of pathogenicity (Feb 8, 2022)	criteria provided, conflicting interpretations
Select item 161718784.	NM_175875.5(SIX5):c.1650C>T (p.Ile550=) GRCh37: Chr19:46269329 GRCh38: Chr19:45766071	SIX5		not provided	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 143246785.	NM_175875.5(SIX5):c.1629C>T (p.Asn543=) GRCh37: Chr19:46269350 GRCh38: Chr19:45766092	SIX5		not provided, Branchiootorenal syndrome 2	Likely benign (Apr 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 225366086.	NM_175875.5(SIX5):c.1617C>A (p.Phe539Leu) GRCh37: Chr19:46269362 GRCh38: Chr19:45766104	SIX5	F539L	Inborn genetic diseases	Uncertain significance (Oct 6, 2021)	criteria provided, single submitter
Select item 219486987.	NM_175875.5(SIX5):c.1617C>T (p.Phe539=) GRCh37: Chr19:46269362 GRCh38: Chr19:45766104	SIX5		not provided	Benign (Sep 27, 2022)	criteria provided, single submitter
Select item 199120588.	NM_175875.5(SIX5):c.1610-19G>A GRCh37: Chr19:46269388 GRCh38: Chr19:45766130	SIX5		not provided	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 118190689.	NM_175875.5(SIX5):c.1609+63G>C GRCh37: Chr19:46269545 GRCh38: Chr19:45766287	SIX5		not provided	Benign (Jul 28, 2018)	criteria provided, single submitter
Select item 131781390.	NM_175875.5(SIX5):c.1609+42G>A GRCh37: Chr19:46269566 GRCh38: Chr19:45766308	SIX5		not provided	Likely benign (Mar 14, 2021)	criteria provided, single submitter
Select item 125675991.	NM_175875.5(SIX5):c.1609+30G>A GRCh37: Chr19:46269578 GRCh38: Chr19:45766320	SIX5		not provided	Benign (Jun 11, 2020)	criteria provided, single submitter
Select item 192416492.	NM_175875.5(SIX5):c.1609+18C>T GRCh37: Chr19:46269590 GRCh38: Chr19:45766332	SIX5		not provided	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 156341593.	NM_175875.5(SIX5):c.1609+14C>T GRCh37: Chr19:46269594 GRCh38: Chr19:45766336	SIX5		Branchiootorenal syndrome 2, not provided	Benign/Likely benign (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 255993894.	NM_175875.5(SIX5):c.1597G>A (p.Ala533Thr) GRCh37: Chr19:46269620 GRCh38: Chr19:45766362	SIX5	A533T	Inborn genetic diseases	Uncertain significance (Jun 13, 2023)	criteria provided, single submitter
Select item 195495895.	NM_175875.5(SIX5):c.1596G>A (p.Ser532=) GRCh37: Chr19:46269621 GRCh38: Chr19:45766363	SIX5		not provided	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 50159396.	NM_175875.5(SIX5):c.1588C>G (p.Leu530Val) GRCh37: Chr19:46269629 GRCh38: Chr19:45766371	SIX5	L530V	not provided	Uncertain significance (May 5, 2017)	criteria provided, single submitter
Select item 45219497.	NM_175875.5(SIX5):c.1582C>G (p.Leu528Val) GRCh37: Chr19:46269635 GRCh38: Chr19:45766377	SIX5	L528V	not provided	Likely benign (Feb 25, 2021)	criteria provided, single submitter
Select item 207127698.	NM_175875.5(SIX5):c.1579G>A (p.Ala527Thr) GRCh37: Chr19:46269638 GRCh38: Chr19:45766380	SIX5	A527T	not provided	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 142621899.	NM_175875.5(SIX5):c.1573G>A (p.Val525Met) GRCh37: Chr19:46269644 GRCh38: Chr19:45766386	SIX5	V525M	not provided	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 1723637100.	NM_175875.5(SIX5):c.1538C>T (p.Pro513Leu) GRCh37: Chr19:46269679 GRCh38: Chr19:45766421	SIX5	P513L	not provided	Likely benign (Nov 9, 2022)	criteria provided, single submitter

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