ClinVar for MedGen (Select 934663) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25810651.	NM_138927.4(SON):c.3408C>A (p.Tyr1136Ter) GRCh37: Chr21:34924945 GRCh38: Chr21:33552639	SON	Y1136*	ZTTK syndrome	Likely pathogenic (Oct 25, 2019)	criteria provided, single submitter
Select item 25765692.	NM_138927.4(SON):c.1075C>T (p.Gln359Ter) GRCh37: Chr21:34922612 GRCh38: Chr21:33550306	SON	Q359*	ZTTK syndrome	Likely pathogenic (May 17, 2023)	criteria provided, single submitter
Select item 25725023.	NM_138927.4(SON):c.1188del (p.Pro398fs) GRCh37: Chr21:34922722 GRCh38: Chr21:33550416	SON	P398fs	ZTTK syndrome	Likely pathogenic	criteria provided, single submitter
Select item 25052394.	NM_138927.4(SON):c.6321+1del GRCh37: Chr21:34929622 GRCh38: Chr21:33557316	SON		ZTTK syndrome	Pathogenic (Jan 25, 2023)	criteria provided, single submitter
Select item 25008895.	NM_138927.4(SON):c.232C>T (p.Arg78Ter) GRCh37: Chr21:34918673 GRCh38: Chr21:33546367	SON	R78*	ZTTK syndrome	Likely pathogenic (May 2, 2023)	criteria provided, single submitter
Select item 24983846.	NM_138927.4(SON):c.6657+198A>T GRCh37: Chr21:34932279 GRCh38: Chr21:33559973	SON	K2252*	ZTTK syndrome	Likely pathogenic	criteria provided, single submitter
Select item 24422227.	NM_138927.4(SON):c.4996C>G (p.Leu1666Val) GRCh37: Chr21:34926533 GRCh38: Chr21:33554227	SON	L1666V	ZTTK syndrome	Uncertain significance (May 23, 2022)	criteria provided, single submitter
Select item 24421338.	NM_138927.4(SON):c.3145A>G (p.Met1049Val) GRCh37: Chr21:34924682 GRCh38: Chr21:33552376	SON	M1049V	ZTTK syndrome	Uncertain significance (Feb 15, 2022)	criteria provided, single submitter
Select item 24419419.	NM_138927.4(SON):c.4424A>C (p.Glu1475Ala) GRCh37: Chr21:34925961 GRCh38: Chr21:33553655	SON	E1475A	ZTTK syndrome	Uncertain significance (Jan 19, 2021)	criteria provided, single submitter
Select item 244184210.	NM_138927.4(SON):c.2655G>A (p.Met885Ile) GRCh37: Chr21:34924192 GRCh38: Chr21:33551886	SON	M885I	ZTTK syndrome	Uncertain significance (Nov 28, 2022)	criteria provided, single submitter
Select item 244166511.	NM_138927.4(SON):c.2905C>T (p.Pro969Ser) GRCh37: Chr21:34924442 GRCh38: Chr21:33552136	SON	P969S	ZTTK syndrome	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 243623812.	NM_138927.4(SON):c.5138A>G (p.Lys1713Arg) GRCh37: Chr21:34926675 GRCh38: Chr21:33554369	SON	K1713R	ZTTK syndrome	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 243623713.	NM_138927.4(SON):c.883C>G (p.Pro295Ala) GRCh37: Chr21:34922420 GRCh38: Chr21:33550114	SON	P295A	ZTTK syndrome	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 243623614.	NM_138927.4(SON):c.937C>T (p.Pro313Ser) GRCh37: Chr21:34922474 GRCh38: Chr21:33550168	SON	P313S	ZTTK syndrome	Uncertain significance (Dec 10, 2020)	criteria provided, single submitter
Select item 243623515.	NM_138927.4(SON):c.3952T>C (p.Ser1318Pro) GRCh37: Chr21:34925489 GRCh38: Chr21:33553183	SON	S1318P	ZTTK syndrome	Uncertain significance (Oct 7, 2020)	criteria provided, single submitter
Select item 243623416.	NM_138927.4(SON):c.1653G>T (p.Gln551His) GRCh37: Chr21:34923190 GRCh38: Chr21:33550884	SON	Q551H	ZTTK syndrome	Uncertain significance (May 17, 2019)	criteria provided, single submitter
Select item 243623317.	NM_138927.4(SON):c.4207G>A (p.Val1403Ile) GRCh37: Chr21:34925744 GRCh38: Chr21:33553438	SON	V1403I	ZTTK syndrome	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 243623218.	NM_138927.4(SON):c.3980C>T (p.Thr1327Ile) GRCh37: Chr21:34925517 GRCh38: Chr21:33553211	SON	T1327I	ZTTK syndrome	Uncertain significance (Mar 1, 2020)	criteria provided, single submitter
Select item 243623119.	NM_138927.4(SON):c.6104G>A (p.Arg2035His) GRCh37: Chr21:34927641 GRCh38: Chr21:33555335	SON	R2035H	ZTTK syndrome	Uncertain significance (Aug 14, 2019)	criteria provided, single submitter
Select item 243623020.	NM_138927.4(SON):c.5873G>A (p.Arg1958His) GRCh37: Chr21:34927410 GRCh38: Chr21:33555104	SON	R1958H	ZTTK syndrome	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 243622921.	NM_138927.4(SON):c.2539G>C (p.Ala847Pro) GRCh37: Chr21:34924076 GRCh38: Chr21:33551770	SON	A847P	ZTTK syndrome	Uncertain significance (Aug 26, 2022)	criteria provided, single submitter
Select item 243622822.	NM_138927.4(SON):c.3638C>T (p.Pro1213Leu) GRCh37: Chr21:34925175 GRCh38: Chr21:33552869	SON	P1213L	ZTTK syndrome	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 243622723.	NM_138927.4(SON):c.3899C>T (p.Ser1300Leu) GRCh37: Chr21:34925436 GRCh38: Chr21:33553130	SON	S1300L	ZTTK syndrome	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 243622624.	NM_138927.4(SON):c.746C>G (p.Pro249Arg) GRCh37: Chr21:34922283 GRCh38: Chr21:33549977	SON	P249R	ZTTK syndrome	Uncertain significance (Sep 26, 2021)	criteria provided, single submitter
Select item 243622525.	NM_138927.4(SON):c.2966G>A (p.Arg989Lys) GRCh37: Chr21:34924503 GRCh38: Chr21:33552197	SON	R989K	ZTTK syndrome	Uncertain significance (Feb 3, 2021)	criteria provided, single submitter
Select item 243622426.	NM_138927.4(SON):c.3255_3281del (p.Met1086_Ser1094del) GRCh37: Chr21:34924781-34924807 GRCh38: Chr21:33552475-33552501	SON		ZTTK syndrome	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 243622327.	NM_138927.4(SON):c.1898C>T (p.Pro633Leu) GRCh37: Chr21:34923435 GRCh38: Chr21:33551129	SON	P633L	ZTTK syndrome	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 243622228.	NM_138927.4(SON):c.196G>A (p.Glu66Lys) GRCh37: Chr21:34918637 GRCh38: Chr21:33546331	SON	E66K	ZTTK syndrome	Uncertain significance (May 22, 2021)	criteria provided, single submitter
Select item 243622129.	NM_138927.4(SON):c.3958C>A (p.His1320Asn) GRCh37: Chr21:34925495 GRCh38: Chr21:33553189	SON	H1320N	ZTTK syndrome	Uncertain significance (May 18, 2021)	criteria provided, single submitter
Select item 243622030.	NM_138927.4(SON):c.3469A>G (p.Met1157Val) GRCh37: Chr21:34925006 GRCh38: Chr21:33552700	SON	M1157V	ZTTK syndrome	Uncertain significance (Apr 3, 2019)	criteria provided, single submitter
Select item 243366531.	NM_138927.4(SON):c.2981del (p.Ala994fs) GRCh37: Chr21:34924518 GRCh38: Chr21:33552212	SON	A994fs	ZTTK syndrome	Likely pathogenic (May 5, 2022)	criteria provided, single submitter
Select item 243151632.	NM_138927.4(SON):c.202_203del (p.Val68fs) GRCh37: Chr21:34918643-34918644 GRCh38: Chr21:33546337-33546338	SON	V68fs	ZTTK syndrome	Likely pathogenic (Jul 27, 2022)	criteria provided, single submitter
Select item 199230933.	NM_138927.4(SON):c.5920C>G (p.Pro1974Ala) GRCh37: Chr21:34927457 GRCh38: Chr21:33555151	SON	P1974A	ZTTK syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 198660134.	NM_138927.4(SON):c.1043C>T (p.Ser348Leu) GRCh37: Chr21:34922580 GRCh38: Chr21:33550274	SON	S348L	ZTTK syndrome, not provided	Uncertain significance (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 193526435.	NM_138927.4(SON):c.3541G>A (p.Ala1181Thr) GRCh37: Chr21:34925078 GRCh38: Chr21:33552772	SON	A1181T	ZTTK syndrome, not provided	Uncertain significance (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180637536.	NM_138927.4(SON):c.4132_4153del (p.Ser1379fs) GRCh37: Chr21:34925668-34925689 GRCh38: Chr21:33553362-33553383	SON	S1379fs	ZTTK syndrome	Likely benign (Aug 28, 2019)	criteria provided, single submitter
Select item 180632737.	NM_138927.4(SON):c.1892_1910del (p.Glu631fs) GRCh37: Chr21:34923425-34923443 GRCh38: Chr21:33551119-33551137	SON	E631fs	ZTTK syndrome	Pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 180602938.	NM_138927.4(SON):c.5647AGA[1] (p.Arg1884del) GRCh37: Chr21:34927182-34927184 GRCh38: Chr21:33554876-33554878	SON	R1884del	ZTTK syndrome	Uncertain significance (May 25, 2020)	criteria provided, single submitter
Select item 180537539.	NM_138927.4(SON):c.2005G>A (p.Val669Met) GRCh37: Chr21:34923542 GRCh38: Chr21:33551236	SON	V669M	not provided, ZTTK syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180307540.	NM_138927.4(SON):c.5455_5456dup (p.Asp1819fs) GRCh37: Chr21:34926988-34926989 GRCh38: Chr21:33554682-33554683	SON	D1819fs	ZTTK syndrome	Likely pathogenic (Feb 3, 2022)	criteria provided, single submitter
Select item 180257841.	NM_138927.4(SON):c.2910del (p.Pro969_Tyr970insTer) GRCh37: Chr21:34924447 GRCh38: Chr21:33552141	SON		ZTTK syndrome	Pathogenic (Nov 29, 2022)	criteria provided, single submitter
Select item 172312942.	NM_138927.4(SON):c.117del (p.Ile41fs) GRCh37: Chr21:34918558 GRCh38: Chr21:33546252	SON	I41fs	ZTTK syndrome	Pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 170914643.	NM_138927.4(SON):c.4480C>T (p.Gln1494Ter) GRCh37: Chr21:34926017 GRCh38: Chr21:33553711	SON	Q1494*	ZTTK syndrome	Pathogenic (Feb 16, 2022)	criteria provided, single submitter
Select item 170823944.	NM_138927.4(SON):c.3156del (p.Met1053fs) GRCh37: Chr21:34924693 GRCh38: Chr21:33552387	SON	M1053fs	ZTTK syndrome	Pathogenic (Oct 4, 2022)	criteria provided, single submitter
Select item 169948845.	NM_138927.4(SON):c.761C>T (p.Thr254Ile) GRCh37: Chr21:34922298 GRCh38: Chr21:33549992	SON	T254I	ZTTK syndrome	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 169946446.	NM_138927.4(SON):c.2357_2358dup (p.Ala787Ter) GRCh37: Chr21:34923893-34923894 GRCh38: Chr21:33551587-33551588	SON	A787*	ZTTK syndrome	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 169912247.	NM_138927.4(SON):c.3968_3975delinsGTTGGT (p.Ser1323fs) GRCh37: Chr21:34925505-34925512 GRCh38: Chr21:33553199-33553206	SON	S1323fs	ZTTK syndrome	Pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 169555548.	NM_138927.4(SON):c.5719A>C (p.Lys1907Gln) GRCh37: Chr21:34927256 GRCh38: Chr21:33554950	SON	K1907Q	ZTTK syndrome, not provided	Uncertain significance (Jan 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168745049.	NM_138927.4(SON):c.4012_4013insCAGAA (p.Val1338fs) GRCh37: Chr21:34925549-34925550 GRCh38: Chr21:33553243-33553244	SON	V1338fs	ZTTK syndrome	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168715950.	NM_138927.4(SON):c.4378_4381del (p.Val1460fs) GRCh37: Chr21:34925913-34925916 GRCh38: Chr21:33553607-33553610	SON	V1460fs	ZTTK syndrome	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168463751.	Single allele GRCh38: Chr21:32213458-34373118	LOC119266102, LOC120807613, LOC126653352, LOC126653353, LOC125418062, LOC125418063, LOC126653342, LOC121853026, LOC125418060, LOC125418061, LOC126653343, LOC126653344, LOC126653348, LOC126653349, LOC126653350, LOC128462413, MIR6501, MIS18A, LOC126653345, LOC126653346, LOC126653347, LOC126653351, ATP5PO, C21orf62, C21orf62-AS1, CFAP298, CFAP298-TCP10L, CRYZL1, DNAJC28, DONSON, EVA1C, GART, IFNAR1, IFNAR2, IFNAR2-IL10RB, IFNGR2, IL10RB, IL10RB-DT, ITSN1, KCNE2, LINC00310, LINC00649, LINC00945, LINC01548, LINC01690, LOC101928107, LOC101928126, LOC105372791, LOC110121331, LOC110121350, LOC110121395, LOC110121495, LOC112694736, LOC119230225, MIS18A-AS1, MRAP, MRAP-AS1, MRPS6, OLIG1, OLIG2, PAXBP1, PAXBP1-AS1, SLC5A3, SNORA80A, SON, SYNJ1, TCP10L, TMEM50B, URB1, URB1-AS1		ZTTK syndrome	Pathogenic (Mar 19, 2021)	criteria provided, single submitter
Select item 168374452.	NM_138927.4(SON):c.971C>T (p.Thr324Ile) GRCh37: Chr21:34922508 GRCh38: Chr21:33550202	SON	T324I	ZTTK syndrome	Uncertain significance (May 10, 2021)	criteria provided, single submitter
Select item 167959753.	NM_138927.4(SON):c.961A>C (p.Ser321Arg) GRCh37: Chr21:34922498 GRCh38: Chr21:33550192	SON	S321R	ZTTK syndrome	Uncertain significance (Jun 11, 2021)	criteria provided, single submitter
Select item 157172554.	NM_138927.4(SON):c.3640C>T (p.Pro1214Ser) GRCh37: Chr21:34925177 GRCh38: Chr21:33552871	SON	P1214S	ZTTK syndrome, not provided	Likely benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152795655.	NM_138927.4(SON):c.1416del (p.Pro473fs) GRCh37: Chr21:34922953 GRCh38: Chr21:33550647	SON	P473fs	ZTTK syndrome	Likely pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 149647556.	NM_138927.4(SON):c.5894G>A (p.Arg1965His) GRCh37: Chr21:34927431 GRCh38: Chr21:33555125	SON	R1965H	ZTTK syndrome, not provided	Conflicting interpretations of pathogenicity (Jun 5, 2022)	criteria provided, conflicting interpretations
Select item 144523657.	NM_138927.4(SON):c.3818A>G (p.His1273Arg) GRCh37: Chr21:34925355 GRCh38: Chr21:33553049	SON	H1273R	ZTTK syndrome, not provided	Uncertain significance (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138338758.	NM_138927.4(SON):c.4593T>A (p.Asn1531Lys) GRCh37: Chr21:34926130 GRCh38: Chr21:33553824	SON	N1531K	not provided, ZTTK syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 135167159.	NM_138927.4(SON):c.4783T>C (p.Ser1595Pro) GRCh37: Chr21:34926320 GRCh38: Chr21:33554014	SON	S1595P	not provided, ZTTK syndrome	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 134313460.	NM_138927.4(SON):c.4198_4201del (p.Pro1400fs) GRCh37: Chr21:34925733-34925736 GRCh38: Chr21:33553427-33553430	SON	P1400fs	ZTTK syndrome	Pathogenic (Dec 16, 2020)	criteria provided, single submitter
Select item 133314761.	NM_138927.4(SON):c.7248del (p.Arg2416fs) GRCh37: Chr21:34948697 GRCh38: Chr21:33576391	SON	R2416fs, R444fs	ZTTK syndrome	Benign (Jul 15, 2021)	criteria provided, single submitter
Select item 133104762.	NM_138927.4(SON):c.4451T>C (p.Met1484Thr) GRCh37: Chr21:34925988 GRCh38: Chr21:33553682	SON	M1484T	ZTTK syndrome, not provided	Uncertain significance (Jul 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132558663.	NM_138927.4(SON):c.3785C>T (p.Thr1262Ile) GRCh37: Chr21:34925322 GRCh38: Chr21:33553016	SON	T1262I	ZTTK syndrome, not provided	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 132554564.	NM_138927.4(SON):c.1096A>G (p.Lys366Glu) GRCh37: Chr21:34922633 GRCh38: Chr21:33550327	SON	K366E	ZTTK syndrome	Uncertain significance (Apr 24, 2020)	criteria provided, single submitter
Select item 132511165.	NM_138927.4(SON):c.2977_2980delinsAATTTTATTCA (p.Leu993fs) GRCh37: Chr21:34924514-34924517 GRCh38: Chr21:33552208-33552211	SON	L993fs	ZTTK syndrome	Likely pathogenic (Jun 29, 2021)	criteria provided, single submitter
Select item 132511066.	NM_138927.4(SON):c.944_975delinsGTCTCTG (p.Glu315fs) GRCh37: Chr21:34922481-34922512 GRCh38: Chr21:33550175-33550206	SON	E315fs	ZTTK syndrome	Likely pathogenic (Oct 30, 2020)	criteria provided, single submitter
Select item 132363367.	NM_138927.4(SON):c.78-1G>A GRCh37: Chr21:34918518 GRCh38: Chr21:33546212	SON		ZTTK syndrome	Pathogenic (Sep 10, 2019)	criteria provided, single submitter
Select item 132363268.	NM_138927.4(SON):c.2965del (p.Arg989fs) GRCh37: Chr21:34924502 GRCh38: Chr21:33552196	SON	R989fs	ZTTK syndrome	Pathogenic (Jul 18, 2019)	criteria provided, single submitter
Select item 130089869.	NM_138927.4(SON):c.1359G>T (p.Leu453Phe) GRCh37: Chr21:34922896 GRCh38: Chr21:33550590	SON	L453F	not provided	Likely benign (Nov 2, 2020)	criteria provided, single submitter
Select item 129132470.	NM_138927.4(SON):c.7236dup (p.Ala2413fs) GRCh37: Chr21:34948684-34948685 GRCh38: Chr21:33576378-33576379	SON	A2413fs, A441fs	not provided, ZTTK syndrome	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 128546171.	NM_138927.4(SON):c.3617_3618del (p.Glu1206fs) GRCh37: Chr21:34925152-34925153 GRCh38: Chr21:33552846-33552847	SON	E1206fs	ZTTK syndrome	Pathogenic (Nov 17, 2020)	criteria provided, single submitter
Select item 128544872.	NM_032195.2:c.(?_-55)_1405del	SON		ZTTK syndrome	Likely pathogenic (Nov 12, 2020)	criteria provided, single submitter
Select item 127987673.	NM_138927.4(SON):c.6161-40T>C GRCh37: Chr21:34929422 GRCh38: Chr21:33557116	SON		not provided, ZTTK syndrome	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 124377474.	NM_138927.4(SON):c.6993T>C (p.Asn2331=) GRCh37: Chr21:34945721 GRCh38: Chr21:33573415	SON		not provided, ZTTK syndrome	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117080575.	NM_138927.4(SON):c.4723C>T (p.Arg1575Cys) GRCh37: Chr21:34926260 GRCh38: Chr21:33553954	SON	R1575C	ZTTK syndrome, not provided	Benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117080376.	NM_138927.4(SON):c.3605C>T (p.Ser1202Leu) GRCh37: Chr21:34925142 GRCh38: Chr21:33552836	SON	S1202L	not provided, ZTTK syndrome	Benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116974877.	NM_138927.4(SON):c.4152G>A (p.Leu1384=) GRCh37: Chr21:34925689 GRCh38: Chr21:33553383	SON		not provided, ZTTK syndrome	Benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116974778.	NM_138927.4(SON):c.2706T>C (p.Asp902=) GRCh37: Chr21:34924243 GRCh38: Chr21:33551937	SON		not provided, ZTTK syndrome	Benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109865279.	NM_138927.4(SON):c.4179G>T (p.Glu1393Asp) GRCh37: Chr21:34925716 GRCh38: Chr21:33553410	SON	E1393D	ZTTK syndrome	Uncertain significance (May 12, 2020)	criteria provided, single submitter
Select item 103294380.	NM_138927.4(SON):c.6083T>A (p.Phe2028Tyr) GRCh37: Chr21:34927620 GRCh38: Chr21:33555314	SON	F2028Y	ZTTK syndrome	Uncertain significance (Apr 5, 2018)	criteria provided, single submitter
Select item 103227281.	NM_138927.4(SON):c.5969G>A (p.Arg1990His) GRCh37: Chr21:34927506 GRCh38: Chr21:33555200	SON	R1990H	ZTTK syndrome	Uncertain significance (Jul 31, 2018)	criteria provided, single submitter
Select item 103227182.	NM_138927.4(SON):c.3815A>G (p.Glu1272Gly) GRCh37: Chr21:34925352 GRCh38: Chr21:33553046	SON	E1272G	ZTTK syndrome	Uncertain significance (Feb 11, 2018)	criteria provided, single submitter
Select item 103227083.	NM_138927.4(SON):c.3530C>T (p.Pro1177Leu) GRCh37: Chr21:34925067 GRCh38: Chr21:33552761	SON	P1177L	ZTTK syndrome	Uncertain significance (Sep 21, 2018)	criteria provided, single submitter
Select item 103226984.	NM_138927.4(SON):c.2449G>T (p.Ala817Ser) GRCh37: Chr21:34923986 GRCh38: Chr21:33551680	SON	A817S	ZTTK syndrome	Uncertain significance (Apr 9, 2018)	criteria provided, single submitter
Select item 103002085.	NM_138927.4(SON):c.6657+316G>A GRCh37: Chr21:34932397 GRCh38: Chr21:33560091	SON	R2291Q	ZTTK syndrome	Uncertain significance (Aug 16, 2019)	criteria provided, single submitter
Select item 103001986.	NM_138927.4(SON):c.637G>C (p.Glu213Gln) GRCh37: Chr21:34922174 GRCh38: Chr21:33549868	SON	E213Q	ZTTK syndrome	Uncertain significance (Jul 9, 2020)	criteria provided, single submitter
Select item 103001887.	NM_138927.4(SON):c.5978G>A (p.Arg1993His) GRCh37: Chr21:34927515 GRCh38: Chr21:33555209	SON	R1993H	ZTTK syndrome	Uncertain significance (Jul 28, 2020)	criteria provided, single submitter
Select item 103001688.	NM_138927.4(SON):c.5840G>A (p.Arg1947Lys) GRCh37: Chr21:34927377 GRCh38: Chr21:33555071	SON	R1947K	ZTTK syndrome	Uncertain significance (Feb 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103001589.	NM_138927.4(SON):c.4972C>T (p.Pro1658Ser) GRCh37: Chr21:34926509 GRCh38: Chr21:33554203	SON	P1658S	ZTTK syndrome	Uncertain significance (Feb 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103001490.	NM_138927.4(SON):c.4901C>T (p.Thr1634Ile) GRCh37: Chr21:34926438 GRCh38: Chr21:33554132	SON	T1634I	ZTTK syndrome	Uncertain significance (Dec 4, 2019)	criteria provided, single submitter
Select item 103001391.	NM_138927.4(SON):c.4548G>A (p.Glu1516=) GRCh37: Chr21:34926085 GRCh38: Chr21:33553779	SON		ZTTK syndrome	Uncertain significance (Jan 23, 2020)	criteria provided, single submitter
Select item 103001292.	NM_138927.4(SON):c.3136G>A (p.Glu1046Lys) GRCh37: Chr21:34924673 GRCh38: Chr21:33552367	SON	E1046K	ZTTK syndrome	Uncertain significance (Sep 11, 2020)	criteria provided, single submitter
Select item 102893193.	NM_138927.4(SON):c.2715G>A (p.Met905Ile) GRCh37: Chr21:34924252 GRCh38: Chr21:33551946	SON	M905I	ZTTK syndrome	Uncertain significance (Feb 27, 2020)	criteria provided, single submitter
Select item 102893094.	NM_138927.4(SON):c.1568A>G (p.Glu523Gly) GRCh37: Chr21:34923105 GRCh38: Chr21:33550799	SON	E523G	ZTTK syndrome	Uncertain significance (Jun 3, 2020)	criteria provided, single submitter
Select item 102892995.	NM_138927.4(SON):c.1091T>C (p.Leu364Pro) GRCh37: Chr21:34922628 GRCh38: Chr21:33550322	SON	L364P	ZTTK syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 99684996.	NM_138927.4(SON):c.245-485_273delinsGTTG GRCh37: Chr21:34921297-34921810 GRCh38: Chr21:33548991-33549504	SON		ZTTK syndrome	Likely pathogenic (Jul 9, 2020)	criteria provided, single submitter
Select item 99244497.	NM_138927.4(SON):c.7091T>C (p.Met2364Thr) GRCh37: Chr21:34947959 GRCh38: Chr21:33575653	SON	M2364T, M392T	ZTTK syndrome	Uncertain significance (Oct 16, 2020)	no assertion criteria provided
Select item 98800898.	NM_138927.4(SON):c.5533delinsACG (p.Ser1845fs) GRCh37: Chr21:34927070 GRCh38: Chr21:33554764	SON	S1845fs	ZTTK syndrome	Pathogenic	criteria provided, single submitter
Select item 97634999.	NM_138927.4(SON):c.2191A>G (p.Met731Val) GRCh37: Chr21:34923728 GRCh38: Chr21:33551422	SON	M731V	ZTTK syndrome	Uncertain significance (Aug 29, 2018)	criteria provided, single submitter
Select item 973267100.	NM_138927.4(SON):c.6321+1G>A GRCh37: Chr21:34929623 GRCh38: Chr21:33557317	SON		ZTTK syndrome	Pathogenic (Feb 12, 2019)	criteria provided, single submitter

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