ClinVar for MedGen (Select 383652) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24440151.	NM_001017995.3(SH3PXD2B):c.1012+1G>T GRCh37: Chr5:171777366 GRCh38: Chr5:172350362	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 1, 2023)	no assertion criteria provided
Select item 17111392.	NM_001017995.3(SH3PXD2B):c.452C>T (p.Pro151Leu) GRCh37: Chr5:171789849 GRCh38: Chr5:172362845	SH3PXD2B	P151L	Frank-Ter Haar syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 13250653.	NM_001017995.3(SH3PXD2B):c.567G>A (p.Trp189Ter) GRCh37: Chr5:171785877 GRCh38: Chr5:172358873	SH3PXD2B	W189*	Frank-Ter Haar syndrome	Likely pathogenic (Oct 27, 2021)	criteria provided, single submitter
Select item 12449194.	NM_001017995.3(SH3PXD2B):c.1013-27A>G GRCh37: Chr5:171774363 GRCh38: Chr5:172347359	SH3PXD2B		Frank-Ter Haar syndrome, not provided	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10629185.	NM_001017995.3(SH3PXD2B):c.1615C>T (p.Arg539Trp) GRCh37: Chr5:171766494 GRCh38: Chr5:172339490	SH3PXD2B	R539W	Frank-Ter Haar syndrome, not provided	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9163486.	NM_001017995.3(SH3PXD2B):c.2592C>A (p.Asp864Glu) GRCh37: Chr5:171765517 GRCh38: Chr5:172338513	SH3PXD2B	D864E	Frank-Ter Haar syndrome, not provided	Uncertain significance (Mar 1, 2020)	criteria provided, multiple submitters, no conflicts
Select item 9073887.	NM_001017995.3(SH3PXD2B):c.-167C>G GRCh37: Chr5:171881523 GRCh38: Chr5:172454519	SH3PXD2B		not provided, Frank-Ter Haar syndrome	Conflicting interpretations of pathogenicity (Jun 26, 2018)	criteria provided, conflicting interpretations
Select item 9073878.	NM_001017995.3(SH3PXD2B):c.-162C>G GRCh37: Chr5:171881518 GRCh38: Chr5:172454514	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9073869.	NM_001017995.3(SH3PXD2B):c.-130C>G GRCh37: Chr5:171881486 GRCh38: Chr5:172454482	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90738510.	NM_001017995.3(SH3PXD2B):c.42C>T (p.Asp14=) GRCh37: Chr5:171881315 GRCh38: Chr5:172454311	SH3PXD2B		not provided, Frank-Ter Haar syndrome	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 90732211.	NM_001017995.3(SH3PXD2B):c.1027A>G (p.Arg343Gly) GRCh37: Chr5:171774322 GRCh38: Chr5:172347318	SH3PXD2B	R343G	Frank-Ter Haar syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90726112.	NM_001017995.3(SH3PXD2B):c.2374C>T (p.Pro792Ser) GRCh37: Chr5:171765735 GRCh38: Chr5:172338731	SH3PXD2B	P792S	Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90726013.	NM_001017995.3(SH3PXD2B):c.2454G>A (p.Thr818=) GRCh37: Chr5:171765655 GRCh38: Chr5:172338651	SH3PXD2B		not provided, Frank-Ter Haar syndrome	Conflicting interpretations of pathogenicity (Aug 16, 2020)	criteria provided, conflicting interpretations
Select item 90725914.	NM_001017995.3(SH3PXD2B):c.2487C>T (p.Thr829=) GRCh37: Chr5:171765622 GRCh38: Chr5:172338618	SH3PXD2B		not provided, Frank-Ter Haar syndrome	Conflicting interpretations of pathogenicity (Feb 9, 2022)	criteria provided, conflicting interpretations
Select item 90719515.	NM_001017995.3(SH3PXD2B):c.*877G>A GRCh37: Chr5:171764496 GRCh38: Chr5:172337492	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90719416.	NM_001017995.3(SH3PXD2B):c.*902G>A GRCh37: Chr5:171764471 GRCh38: Chr5:172337467	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90719317.	NM_001017995.3(SH3PXD2B):c.*1199T>C GRCh37: Chr5:171764174 GRCh38: Chr5:172337170	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90712918.	NM_001017995.3(SH3PXD2B):c.*2203T>C GRCh37: Chr5:171763170 GRCh38: Chr5:172336166	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90712819.	NM_001017995.3(SH3PXD2B):c.*2262G>A GRCh37: Chr5:171763111 GRCh38: Chr5:172336107	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90712720.	NM_001017995.3(SH3PXD2B):c.*2275G>C GRCh37: Chr5:171763098 GRCh38: Chr5:172336094	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90712621.	NM_001017995.3(SH3PXD2B):c.*2355G>C GRCh37: Chr5:171763018 GRCh38: Chr5:172336014	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 90707322.	NM_001017995.3(SH3PXD2B):c.*3191C>T GRCh37: Chr5:171762182 GRCh38: Chr5:172335178	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90707223.	NM_001017995.3(SH3PXD2B):c.*3226C>A GRCh37: Chr5:171762147 GRCh38: Chr5:172335143	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90707124.	NM_001017995.3(SH3PXD2B):c.*3227C>G GRCh37: Chr5:171762146 GRCh38: Chr5:172335142	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90701525.	NM_001017995.3(SH3PXD2B):c.*4773G>C GRCh37: Chr5:171760600 GRCh38: Chr5:172333596	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 90638326.	NM_001017995.3(SH3PXD2B):c.233-14C>G GRCh37: Chr5:171821657 GRCh38: Chr5:172394653	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90638227.	NM_001017995.3(SH3PXD2B):c.274G>A (p.Val92Ile) GRCh37: Chr5:171821602 GRCh38: Chr5:172394598	SH3PXD2B	V92I	Frank-Ter Haar syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90638128.	NM_001017995.3(SH3PXD2B):c.427+14C>T GRCh37: Chr5:171800780 GRCh38: Chr5:172373776	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90631229.	NM_001017995.3(SH3PXD2B):c.1088C>T (p.Pro363Leu) GRCh37: Chr5:171773240 GRCh38: Chr5:172346236	SH3PXD2B	P363L	Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90631130.	NM_001017995.3(SH3PXD2B):c.1326C>T (p.His442=) GRCh37: Chr5:171766783 GRCh38: Chr5:172339779	SH3PXD2B		not provided, Frank-Ter Haar syndrome	Conflicting interpretations of pathogenicity (Jun 13, 2021)	criteria provided, conflicting interpretations
Select item 90626431.	NM_001017995.3(SH3PXD2B):c.2601C>G (p.Thr867=) GRCh37: Chr5:171765508 GRCh38: Chr5:172338504	SH3PXD2B		not provided, Frank-Ter Haar syndrome	Conflicting interpretations of pathogenicity (Feb 24, 2022)	criteria provided, conflicting interpretations
Select item 90626332.	NM_001017995.3(SH3PXD2B):c.*158G>A GRCh37: Chr5:171765215 GRCh38: Chr5:172338211	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90626233.	NM_001017995.3(SH3PXD2B):c.*171G>A GRCh37: Chr5:171765202 GRCh38: Chr5:172338198	SH3PXD2B		Frank-Ter Haar syndrome	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90626134.	NM_001017995.3(SH3PXD2B):c.*300G>A GRCh37: Chr5:171765073 GRCh38: Chr5:172338069	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90620035.	NM_001017995.3(SH3PXD2B):c.*1379T>C GRCh37: Chr5:171763994 GRCh38: Chr5:172336990	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 90613536.	NM_001017995.3(SH3PXD2B):c.*2449G>T GRCh37: Chr5:171762924 GRCh38: Chr5:172335920	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90613437.	NM_001017995.3(SH3PXD2B):c.*2469C>T GRCh37: Chr5:171762904 GRCh38: Chr5:172335900	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 90613338.	NM_001017995.3(SH3PXD2B):c.*2538T>C GRCh37: Chr5:171762835 GRCh38: Chr5:172335831	SH3PXD2B		Frank-Ter Haar syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90613239.	NM_001017995.3(SH3PXD2B):c.*2592G>A GRCh37: Chr5:171762781 GRCh38: Chr5:172335777	SH3PXD2B		Frank-Ter Haar syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90606940.	NM_001017995.3(SH3PXD2B):c.*3327A>T GRCh37: Chr5:171762046 GRCh38: Chr5:172335042	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90606841.	NM_001017995.3(SH3PXD2B):c.*3358G>A GRCh37: Chr5:171762015 GRCh38: Chr5:172335011	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90606742.	NM_001017995.3(SH3PXD2B):c.*3388C>T GRCh37: Chr5:171761985 GRCh38: Chr5:172334981	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90606643.	NM_001017995.3(SH3PXD2B):c.*3411G>A GRCh37: Chr5:171761962 GRCh38: Chr5:172334958	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 90606544.	NM_001017995.3(SH3PXD2B):c.*3595G>A GRCh37: Chr5:171761778 GRCh38: Chr5:172334774	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90587145.	NM_001017995.3(SH3PXD2B):c.693G>A (p.Pro231=) GRCh37: Chr5:171780984 GRCh38: Chr5:172353980	SH3PXD2B		not provided, Frank-Ter Haar syndrome	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 90580346.	NM_001017995.3(SH3PXD2B):c.1492G>A (p.Ala498Thr) GRCh37: Chr5:171766617 GRCh38: Chr5:172339613	SH3PXD2B	A498T	not provided, Frank-Ter Haar syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90580247.	NM_001017995.3(SH3PXD2B):c.1596G>A (p.Ser532=) GRCh37: Chr5:171766513 GRCh38: Chr5:172339509	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90580148.	NM_001017995.3(SH3PXD2B):c.1610T>G (p.Leu537Arg) GRCh37: Chr5:171766499 GRCh38: Chr5:172339495	SH3PXD2B	L537R	Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90580049.	NM_001017995.3(SH3PXD2B):c.1616G>A (p.Arg539Gln) GRCh37: Chr5:171766493 GRCh38: Chr5:172339489	SH3PXD2B	R539Q	not provided, Frank-Ter Haar syndrome	Uncertain significance (Oct 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90574850.	NM_001017995.3(SH3PXD2B):c.*600G>C GRCh37: Chr5:171764773 GRCh38: Chr5:172337769	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90568451.	NM_001017995.3(SH3PXD2B):c.*1478T>C GRCh37: Chr5:171763895 GRCh38: Chr5:172336891	SH3PXD2B		Frank-Ter Haar syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90568352.	NM_001017995.3(SH3PXD2B):c.*1633C>T GRCh37: Chr5:171763740 GRCh38: Chr5:172336736	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90568253.	NM_001017995.3(SH3PXD2B):c.*1692G>T GRCh37: Chr5:171763681 GRCh38: Chr5:172336677	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90561954.	NM_001017995.3(SH3PXD2B):c.*2666G>T GRCh37: Chr5:171762707 GRCh38: Chr5:172335703	SH3PXD2B		Frank-Ter Haar syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90561855.	NM_001017995.3(SH3PXD2B):c.*2684G>A GRCh37: Chr5:171762689 GRCh38: Chr5:172335685	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90561756.	NM_001017995.3(SH3PXD2B):c.*2740A>G GRCh37: Chr5:171762633 GRCh38: Chr5:172335629	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90561657.	NM_001017995.3(SH3PXD2B):c.*2825C>T GRCh37: Chr5:171762548 GRCh38: Chr5:172335544	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90555958.	NM_001017995.3(SH3PXD2B):c.*3629C>A GRCh37: Chr5:171761744 GRCh38: Chr5:172334740	SH3PXD2B		Frank-Ter Haar syndrome	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90555859.	NM_001017995.3(SH3PXD2B):c.*3643A>T GRCh37: Chr5:171761730 GRCh38: Chr5:172334726	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90555760.	NM_001017995.3(SH3PXD2B):c.*3714C>T GRCh37: Chr5:171761659 GRCh38: Chr5:172334655	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90555661.	NM_001017995.3(SH3PXD2B):c.*3858G>C GRCh37: Chr5:171761515 GRCh38: Chr5:172334511	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90555562.	NM_001017995.3(SH3PXD2B):c.*3989G>A GRCh37: Chr5:171761384 GRCh38: Chr5:172334380	SH3PXD2B		Frank-Ter Haar syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90476963.	NM_001017995.3(SH3PXD2B):c.*4102G>T GRCh37: Chr5:171761271 GRCh38: Chr5:172334267	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90476864.	NM_001017995.3(SH3PXD2B):c.*4266G>T GRCh37: Chr5:171761107 GRCh38: Chr5:172334103	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90476765.	NM_001017995.3(SH3PXD2B):c.*4489C>T GRCh37: Chr5:171760884 GRCh38: Chr5:172333880	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90399066.	NM_001017995.3(SH3PXD2B):c.899T>C (p.Leu300Ser) GRCh37: Chr5:171777480 GRCh38: Chr5:172350476	SH3PXD2B	L300S	Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90398967.	NM_001017995.3(SH3PXD2B):c.913C>T (p.Arg305Trp) GRCh37: Chr5:171777466 GRCh38: Chr5:172350462	SH3PXD2B	R305W	Inborn genetic diseases, Frank-Ter Haar syndrome	Uncertain significance (Apr 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90398868.	NM_001017995.3(SH3PXD2B):c.926C>T (p.Ala309Val) GRCh37: Chr5:171777453 GRCh38: Chr5:172350449	SH3PXD2B	A309V	not provided, Frank-Ter Haar syndrome	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90398769.	NM_001017995.3(SH3PXD2B):c.966C>T (p.Asp322=) GRCh37: Chr5:171777413 GRCh38: Chr5:172350409	SH3PXD2B		not provided, Frank-Ter Haar syndrome	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 90398670.	NM_001017995.3(SH3PXD2B):c.986C>T (p.Pro329Leu) GRCh37: Chr5:171777393 GRCh38: Chr5:172350389	SH3PXD2B	P329L	not provided, Frank-Ter Haar syndrome	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90391771.	NM_001017995.3(SH3PXD2B):c.1671G>A (p.Pro557=) GRCh37: Chr5:171766438 GRCh38: Chr5:172339434	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90391672.	NM_001017995.3(SH3PXD2B):c.1672G>A (p.Gly558Ser) GRCh37: Chr5:171766437 GRCh38: Chr5:172339433	SH3PXD2B	G558S	not provided, Frank-Ter Haar syndrome	Benign/Likely benign (Apr 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90391573.	NM_001017995.3(SH3PXD2B):c.1984G>A (p.Asp662Asn) GRCh37: Chr5:171766125 GRCh38: Chr5:172339121	SH3PXD2B	D662N	Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90391474.	NM_001017995.3(SH3PXD2B):c.2079C>G (p.Asp693Glu) GRCh37: Chr5:171766030 GRCh38: Chr5:172339026	SH3PXD2B	D693E	Frank-Ter Haar syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90385475.	NM_001017995.3(SH3PXD2B):c.*698C>T GRCh37: Chr5:171764675 GRCh38: Chr5:172337671	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 90378076.	NM_001017995.3(SH3PXD2B):c.*1751T>C GRCh37: Chr5:171763622 GRCh38: Chr5:172336618	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90377977.	NM_001017995.3(SH3PXD2B):c.*1862G>A GRCh37: Chr5:171763511 GRCh38: Chr5:172336507	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90377878.	NM_001017995.3(SH3PXD2B):c.*1862G>T GRCh37: Chr5:171763511 GRCh38: Chr5:172336507	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90377779.	NM_001017995.3(SH3PXD2B):c.*1913C>T GRCh37: Chr5:171763460 GRCh38: Chr5:172336456	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90377680.	NM_001017995.3(SH3PXD2B):c.*1928A>G GRCh37: Chr5:171763445 GRCh38: Chr5:172336441	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90377581.	NM_001017995.3(SH3PXD2B):c.*2031C>T GRCh37: Chr5:171763342 GRCh38: Chr5:172336338	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90370182.	NM_001017995.3(SH3PXD2B):c.*2826G>A GRCh37: Chr5:171762547 GRCh38: Chr5:172335543	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90370083.	NM_001017995.3(SH3PXD2B):c.*2888G>C GRCh37: Chr5:171762485 GRCh38: Chr5:172335481	SH3PXD2B		Frank-Ter Haar syndrome	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 90369984.	NM_001017995.3(SH3PXD2B):c.*3114A>G GRCh37: Chr5:171762259 GRCh38: Chr5:172335255	SH3PXD2B		Frank-Ter Haar syndrome	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 80085785.	NM_001017995.3(SH3PXD2B):c.1678A>T (p.Ile560Phe) GRCh37: Chr5:171766431 GRCh38: Chr5:172339427	SH3PXD2B	I560F	not provided	Uncertain significance (Nov 29, 2022)	criteria provided, single submitter
Select item 79202186.	NM_001017995.3(SH3PXD2B):c.1333A>G (p.Thr445Ala) GRCh37: Chr5:171766776 GRCh38: Chr5:172339772	SH3PXD2B	T445A	Inborn genetic diseases, Frank-Ter Haar syndrome, not provided	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73717587.	NM_001017995.3(SH3PXD2B):c.2626_2629del (p.Phe876fs) GRCh37: Chr5:171765480-171765483 GRCh38: Chr5:172338476-172338479	SH3PXD2B	F876fs	not provided, Frank-Ter Haar syndrome	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 72711288.	NM_001017995.3(SH3PXD2B):c.1512G>A (p.Ala504=) GRCh37: Chr5:171766597 GRCh38: Chr5:172339593	SH3PXD2B		not provided, Frank-Ter Haar syndrome	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 54788789.	NM_001017995.3(SH3PXD2B):c.1403G>A (p.Arg468Gln) GRCh37: Chr5:171766706 GRCh38: Chr5:172339702	SH3PXD2B	R468Q	not provided, Frank-Ter Haar syndrome	Uncertain significance (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50167590.	NM_001017995.3(SH3PXD2B):c.2189C>T (p.Pro730Leu) GRCh37: Chr5:171765920 GRCh38: Chr5:172338916	SH3PXD2B	P730L	Frank-Ter Haar syndrome, not provided	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 49984691.	NM_001017995.3(SH3PXD2B):c.1063-7G>T GRCh37: Chr5:171773272 GRCh38: Chr5:172346268	SH3PXD2B		not provided, Frank-Ter Haar syndrome	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 49728292.	NM_001017995.3(SH3PXD2B):c.2093G>A (p.Arg698Gln) GRCh37: Chr5:171766016 GRCh38: Chr5:172339012	SH3PXD2B	R698Q	not provided, Frank-Ter Haar syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35283393.	NM_001017995.3(SH3PXD2B):c.-79C>A GRCh37: Chr5:171881435 GRCh38: Chr5:172454431	SH3PXD2B		Frank-Ter Haar syndrome, not provided	Benign/Likely benign (Jan 10, 2019)	criteria provided, multiple submitters, no conflicts
Select item 35283294.	NM_001017995.3(SH3PXD2B):c.-67C>T GRCh37: Chr5:171881423 GRCh38: Chr5:172454419	SH3PXD2B		Frank-Ter Haar syndrome, not provided	Benign (Jul 7, 2018)	criteria provided, multiple submitters, no conflicts
Select item 35283195.	NM_001017995.3(SH3PXD2B):c.-56C>G GRCh37: Chr5:171881412 GRCh38: Chr5:172454408	SH3PXD2B		Frank-Ter Haar syndrome, not provided	Benign (Nov 8, 2018)	criteria provided, multiple submitters, no conflicts
Select item 35283096.	NM_001017995.3(SH3PXD2B):c.-40C>T GRCh37: Chr5:171881396 GRCh38: Chr5:172454392	SH3PXD2B		Frank-Ter Haar syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35282997.	NM_001017995.3(SH3PXD2B):c.66C>T (p.Asn22=) GRCh37: Chr5:171881291 GRCh38: Chr5:172454287	SH3PXD2B		not provided, Frank-Ter Haar syndrome	Conflicting interpretations of pathogenicity (May 3, 2022)	criteria provided, conflicting interpretations
Select item 35282898.	NM_001017995.3(SH3PXD2B):c.76-4G>A GRCh37: Chr5:171849504 GRCh38: Chr5:172422500	SH3PXD2B		not provided, Frank-Ter Haar syndrome	Conflicting interpretations of pathogenicity (Sep 28, 2022)	criteria provided, conflicting interpretations
Select item 35282799.	NM_001017995.3(SH3PXD2B):c.232+4G>A GRCh37: Chr5:171833277 GRCh38: Chr5:172406273	SH3PXD2B		not provided, Frank-Ter Haar syndrome	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 352826100.	NM_001017995.3(SH3PXD2B):c.427+14C>G GRCh37: Chr5:171800780 GRCh38: Chr5:172373776	SH3PXD2B		not provided, Frank-Ter Haar syndrome	Benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts

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