ClinVar for MedGen (Select 38214) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 22000511.	NM_003923.3(FOXH1):c.219C>T (p.Asp73=) GRCh37: Chr8:145700600 GRCh38: Chr8:144475217	FOXH1		Holoprosencephaly sequence	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 21964382.	NM_003923.3(FOXH1):c.444G>C (p.Val148=) GRCh37: Chr8:145700275 GRCh38: Chr8:144474892	FOXH1		Holoprosencephaly sequence	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 21818273.	NM_003923.3(FOXH1):c.923C>T (p.Pro308Leu) GRCh37: Chr8:145699796 GRCh38: Chr8:144474413	FOXH1	P308L	Holoprosencephaly sequence	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 21751764.	NM_003923.3(FOXH1):c.75G>A (p.Lys25=) GRCh37: Chr8:145701065 GRCh38: Chr8:144475682	FOXH1		Holoprosencephaly sequence	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 21712325.	NM_003923.3(FOXH1):c.77A>G (p.Lys26Arg) GRCh37: Chr8:145701063 GRCh38: Chr8:144475680	FOXH1	K26R	Holoprosencephaly sequence	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 21706936.	NM_003923.3(FOXH1):c.599G>A (p.Gly200Glu) GRCh37: Chr8:145700120 GRCh38: Chr8:144474737	FOXH1	G200E	Holoprosencephaly sequence	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 21530847.	NM_003923.3(FOXH1):c.48G>A (p.Ser16=) GRCh37: Chr8:145701092 GRCh38: Chr8:144475709	FOXH1		Holoprosencephaly sequence	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 21489038.	NM_003923.3(FOXH1):c.470C>G (p.Pro157Arg) GRCh37: Chr8:145700249 GRCh38: Chr8:144474866	FOXH1	P157R	Holoprosencephaly sequence	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 21367179.	NM_003923.3(FOXH1):c.1060C>T (p.Pro354Ser) GRCh37: Chr8:145699659 GRCh38: Chr8:144474276	FOXH1	P354S	Holoprosencephaly sequence	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 213658610.	NM_003923.3(FOXH1):c.296C>A (p.Ala99Glu) GRCh37: Chr8:145700423 GRCh38: Chr8:144475040	FOXH1	A99E	Holoprosencephaly sequence	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 212900411.	NM_003923.3(FOXH1):c.182G>T (p.Arg61Leu) GRCh37: Chr8:145700637 GRCh38: Chr8:144475254	FOXH1	R61L	Holoprosencephaly sequence	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 208554112.	NM_003923.3(FOXH1):c.1026C>T (p.Asp342=) GRCh37: Chr8:145699693 GRCh38: Chr8:144474310	FOXH1		Holoprosencephaly sequence	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 198314013.	NM_003923.3(FOXH1):c.868G>A (p.Val290Ile) GRCh37: Chr8:145699851 GRCh38: Chr8:144474468	FOXH1	V290I	Holoprosencephaly sequence	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 196173814.	NM_003923.3(FOXH1):c.385C>T (p.Arg129Trp) GRCh37: Chr8:145700334 GRCh38: Chr8:144474951	FOXH1	R129W	Holoprosencephaly sequence	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 193984315.	NM_003923.3(FOXH1):c.867G>A (p.Val289=) GRCh37: Chr8:145699852 GRCh38: Chr8:144474469	FOXH1		Holoprosencephaly sequence	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 166230016.	NM_003923.3(FOXH1):c.843C>T (p.Tyr281=) GRCh37: Chr8:145699876 GRCh38: Chr8:144474493	FOXH1		Holoprosencephaly sequence	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 164335017.	NM_003923.3(FOXH1):c.525G>A (p.Gly175=) GRCh37: Chr8:145700194 GRCh38: Chr8:144474811	FOXH1		Holoprosencephaly sequence	Benign (Aug 23, 2022)	criteria provided, single submitter
Select item 162355018.	NM_003923.3(FOXH1):c.165G>A (p.Lys55=) GRCh37: Chr8:145700975 GRCh38: Chr8:144475592	FOXH1		Holoprosencephaly sequence	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 160665019.	NM_003923.3(FOXH1):c.660C>T (p.Cys220=) GRCh37: Chr8:145700059 GRCh38: Chr8:144474676	FOXH1		Holoprosencephaly sequence	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 155145720.	NM_003923.3(FOXH1):c.609G>A (p.Ala203=) GRCh37: Chr8:145700110 GRCh38: Chr8:144474727	FOXH1		Holoprosencephaly sequence	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 153762021.	NM_003923.3(FOXH1):c.477C>G (p.Pro159=) GRCh37: Chr8:145700242 GRCh38: Chr8:144474859	FOXH1		Holoprosencephaly sequence	Likely benign (Oct 6, 2021)	criteria provided, single submitter
Select item 151663222.	NM_003923.3(FOXH1):c.560C>T (p.Pro187Leu) GRCh37: Chr8:145700159 GRCh38: Chr8:144474776	FOXH1	P187L	Holoprosencephaly sequence	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 149585423.	NM_003923.3(FOXH1):c.548C>T (p.Pro183Leu) GRCh37: Chr8:145700171 GRCh38: Chr8:144474788	FOXH1	P183L	Holoprosencephaly sequence	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 147476824.	NM_003923.3(FOXH1):c.147_149del (p.Pro50del) GRCh37: Chr8:145700991-145700993 GRCh38: Chr8:144475608-144475610	FOXH1	P50del	Holoprosencephaly sequence	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 144254025.	NM_003923.3(FOXH1):c.889C>T (p.Pro297Ser) GRCh37: Chr8:145699830 GRCh38: Chr8:144474447	FOXH1	P297S	Holoprosencephaly sequence	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 143750526.	NM_003923.3(FOXH1):c.40G>A (p.Ala14Thr) GRCh37: Chr8:145701100 GRCh38: Chr8:144475717	FOXH1	A14T	Holoprosencephaly sequence	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 143619127.	NM_003923.3(FOXH1):c.254_265del (p.Leu85_Asn88del) GRCh37: Chr8:145700554-145700565 GRCh38: Chr8:144475171-144475182	FOXH1		Holoprosencephaly sequence	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 141951428.	NM_003923.3(FOXH1):c.416C>A (p.Ala139Asp) GRCh37: Chr8:145700303 GRCh38: Chr8:144474920	FOXH1	A139D	Inborn genetic diseases, Holoprosencephaly sequence	Uncertain significance (Dec 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141277229.	NM_003923.3(FOXH1):c.791G>C (p.Arg264Pro) GRCh37: Chr8:145699928 GRCh38: Chr8:144474545	FOXH1	R264P	Holoprosencephaly sequence	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 141170430.	NC_000008.10:g.(?_143822561)_(145743168_?)dup GRCh37: Chr8:143822561-145743168	ADCK5, BOP1, CCDC166, CPSF1, CYC1, CYP11B1, CYP11B2, DGAT1, EEF1D, EPPK1, EXOSC4, FAM83H, FBXL6, FOXH1, GFUS, GLI4, GML, GPAA1, GPIHBP1, GPT, GRINA, GSDMD, HGH1, HSF1, KIFC2, LY6D, LY6E, LY6H, LY6S-AS1, LYNX1, LYPD2, MAF1, MAFA, MAPK15, MFSD3, MIR1234, MIR661, MROH1, MROH6, NAPRT, NRBP2, OPLAH, PARP10, PLEC, PPP1R16A, PUF60, PYCR3, RECQL4, RHPN1, SCRIB, SCRT1, SCX, SHARPIN, SLC39A4, SLC52A2, SLURP1, SPATC1, TIGD5, TMEM249, TONSL, TOP1MT, VPS28, ZC3H3, ZFP41, ZFTRAF1, ZNF623, ZNF696, ZNF707		Holoprosencephaly sequence	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 140284831.	NM_003923.3(FOXH1):c.128C>T (p.Ala43Val) GRCh37: Chr8:145701012 GRCh38: Chr8:144475629	FOXH1	A43V	Holoprosencephaly sequence	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 139892532.	NM_003923.3(FOXH1):c.958C>T (p.Pro320Ser) GRCh37: Chr8:145699761 GRCh38: Chr8:144474378	FOXH1	P320S	Holoprosencephaly sequence	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 138653233.	NM_003923.3(FOXH1):c.122T>C (p.Met41Thr) GRCh37: Chr8:145701018 GRCh38: Chr8:144475635	FOXH1	M41T	Holoprosencephaly sequence	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 137760334.	NM_003923.3(FOXH1):c.376G>A (p.Ala126Thr) GRCh37: Chr8:145700343 GRCh38: Chr8:144474960	FOXH1	A126T	Holoprosencephaly sequence	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 134253435.	NM_001393530.1(MATN4):c.1688-7C>A GRCh37: Chr20:43922472 GRCh38: Chr20:45293832	LOC130065955, MATN4		Holoprosencephaly sequence	Uncertain significance (Apr 30, 2021)	criteria provided, single submitter
Select item 115002536.	NM_003923.3(FOXH1):c.130T>G (p.Leu44Val) GRCh37: Chr8:145701010 GRCh38: Chr8:144475627	FOXH1	L44V	Holoprosencephaly sequence	Likely benign (Nov 12, 2019)	criteria provided, single submitter
Select item 114937537.	NM_003923.3(FOXH1):c.726C>T (p.Thr242=) GRCh37: Chr8:145699993 GRCh38: Chr8:144474610	FOXH1		Holoprosencephaly sequence	Likely benign (Aug 4, 2020)	criteria provided, single submitter
Select item 110163938.	NM_003923.3(FOXH1):c.6G>A (p.Gly2=) GRCh37: Chr8:145701134 GRCh38: Chr8:144475751	FOXH1		Holoprosencephaly sequence	Likely benign (Feb 5, 2020)	criteria provided, single submitter
Select item 105947839.	NM_003923.3(FOXH1):c.32C>A (p.Pro11His) GRCh37: Chr8:145701108 GRCh38: Chr8:144475725	FOXH1	P11H	Holoprosencephaly sequence	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 105905340.	NM_003923.3(FOXH1):c.878T>G (p.Leu293Trp) GRCh37: Chr8:145699841 GRCh38: Chr8:144474458	FOXH1	L293W	Holoprosencephaly sequence	Uncertain significance (Jan 26, 2018)	criteria provided, single submitter
Select item 102194541.	NM_003923.3(FOXH1):c.424A>G (p.Lys142Glu) GRCh37: Chr8:145700295 GRCh38: Chr8:144474912	FOXH1	K142E	Holoprosencephaly sequence	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 101960342.	NM_003923.3(FOXH1):c.507C>G (p.Ile169Met) GRCh37: Chr8:145700212 GRCh38: Chr8:144474829	FOXH1	I169M	not provided, Holoprosencephaly sequence	Uncertain significance (Dec 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101720443.	NM_003923.3(FOXH1):c.727C>T (p.Leu243Phe) GRCh37: Chr8:145699992 GRCh38: Chr8:144474609	FOXH1	L243F	Holoprosencephaly sequence	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 100724544.	NM_003923.3(FOXH1):c.685G>A (p.Glu229Lys) GRCh37: Chr8:145700034 GRCh38: Chr8:144474651	FOXH1	E229K	Holoprosencephaly sequence	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 97867445.	NM_005560.6(LAMA5):c.5635G>A (p.Val1879Ile) GRCh37: Chr20:60899505 GRCh38: Chr20:62324449	LAMA5	V1879I	Severe hydrocephalus, Holoprosencephaly sequence	Uncertain significance (Oct 16, 2019)	criteria provided, single submitter
Select item 97864546.	NM_005560.6(LAMA5):c.5680C>T (p.Arg1894Cys) GRCh37: Chr20:60899224 GRCh38: Chr20:62324168	LAMA5	R1894C	Holoprosencephaly sequence, Severe hydrocephalus, not provided	Conflicting interpretations of pathogenicity (Oct 3, 2022)	criteria provided, conflicting interpretations
Select item 97862047.	NM_005089.4(ZRSR2):c.1207_1208del (p.Arg403fs) GRCh37: ChrX:15841123-15841124 GRCh38: ChrX:15823000-15823001	ZRSR2	R403fs	Median cleft lip and palate, Heart, malformation of, Holoprosencephaly sequence, Severe hydrocephalus	Likely pathogenic (Oct 16, 2019)	criteria provided, single submitter
Select item 96349548.	NM_003923.3(FOXH1):c.13A>T (p.Ser5Cys) GRCh37: Chr8:145701127 GRCh38: Chr8:144475744	FOXH1	S5C	Holoprosencephaly sequence	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 95632149.	NM_003923.3(FOXH1):c.473G>C (p.Ser158Thr) GRCh37: Chr8:145700246 GRCh38: Chr8:144474863	FOXH1	S158T	Holoprosencephaly sequence	Uncertain significance (Aug 29, 2022)	criteria provided, single submitter
Select item 91216150.	NM_003923.2(FOXH1):c.-337G>A GRCh37: Chr8:145701476 GRCh38: Chr8:144476093	FOXH1		Holoprosencephaly sequence	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91216051.	NM_003923.2(FOXH1):c.-307G>A GRCh37: Chr8:145701446 GRCh38: Chr8:144476063	FOXH1		Holoprosencephaly sequence	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 91215952.	NM_003923.2(FOXH1):c.-307G>C GRCh37: Chr8:145701446 GRCh38: Chr8:144476063	FOXH1		Holoprosencephaly sequence	Uncertain significance (Feb 9, 2018)	criteria provided, single submitter
Select item 91215853.	NM_003923.2(FOXH1):c.-275G>T GRCh37: Chr8:145701414 GRCh38: Chr8:144476031	FOXH1		Holoprosencephaly sequence	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91209554.	NM_003923.3(FOXH1):c.776C>T (p.Ala259Val) GRCh37: Chr8:145699943 GRCh38: Chr8:144474560	FOXH1	A259V	Holoprosencephaly sequence	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91209455.	NM_003923.3(FOXH1):c.812C>T (p.Ala271Val) GRCh37: Chr8:145699907 GRCh38: Chr8:144474524	FOXH1	A271V	Holoprosencephaly sequence	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91209356.	NM_003923.3(FOXH1):c.965G>T (p.Gly322Val) GRCh37: Chr8:145699754 GRCh38: Chr8:144474371	FOXH1	G322V	Holoprosencephaly sequence, Inborn genetic diseases	Uncertain significance (Jul 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91094057.	NM_003923.3(FOXH1):c.-53G>A GRCh37: Chr8:145701192 GRCh38: Chr8:144475809	FOXH1		Holoprosencephaly sequence	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91093958.	NM_003923.3(FOXH1):c.-27C>A GRCh37: Chr8:145701166 GRCh38: Chr8:144475783	FOXH1		Holoprosencephaly sequence	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 91093859.	NM_003923.3(FOXH1):c.44A>T (p.Glu15Val) GRCh37: Chr8:145701096 GRCh38: Chr8:144475713	FOXH1	E15V	Holoprosencephaly sequence	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91093760.	NM_003923.3(FOXH1):c.81G>A (p.Arg27=) GRCh37: Chr8:145701059 GRCh38: Chr8:144475676	FOXH1		Holoprosencephaly sequence	Uncertain significance (Mar 23, 2018)	criteria provided, single submitter
Select item 91093661.	NM_003923.3(FOXH1):c.182G>A (p.Arg61His) GRCh37: Chr8:145700637 GRCh38: Chr8:144475254	FOXH1	R61H	Holoprosencephaly sequence	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91087162.	NM_003923.3(FOXH1):c.*21C>A GRCh37: Chr8:145699600 GRCh38: Chr8:144474217	FOXH1		Holoprosencephaly sequence	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91004163.	NM_003923.3(FOXH1):c.224A>G (p.Glu75Gly) GRCh37: Chr8:145700595 GRCh38: Chr8:144475212	FOXH1	E75G	Holoprosencephaly sequence	Conflicting interpretations of pathogenicity (Feb 22, 2022)	criteria provided, conflicting interpretations
Select item 90998464.	NM_001369769.2(KIFC2):c.*761T>C GRCh37: Chr8:145699533 GRCh38: Chr8:144474150	FOXH1, KIFC2		Holoprosencephaly sequence	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90998365.	NM_001369769.2(KIFC2):c.*616C>T GRCh37: Chr8:145699388 GRCh38: Chr8:144474005	FOXH1, KIFC2		Holoprosencephaly sequence	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90998266.	NM_001369769.2(KIFC2):c.*527G>T GRCh37: Chr8:145699299 GRCh38: Chr8:144473916	FOXH1, KIFC2		Holoprosencephaly sequence	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90998167.	NM_001369769.2(KIFC2):c.*495G>A GRCh37: Chr8:145699267 GRCh38: Chr8:144473884	FOXH1, KIFC2		Holoprosencephaly sequence	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90998068.	NM_001369769.2(KIFC2):c.*467G>A GRCh37: Chr8:145699239 GRCh38: Chr8:144473856	FOXH1, KIFC2		Holoprosencephaly sequence	Uncertain significance (Apr 6, 2018)	criteria provided, single submitter
Select item 90997969.	NM_001369769.2(KIFC2):c.*426C>T GRCh37: Chr8:145699198 GRCh38: Chr8:144473815	FOXH1, KIFC2		Holoprosencephaly sequence	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90913870.	NM_001369769.2(KIFC2):c.*419C>T GRCh37: Chr8:145699191 GRCh38: Chr8:144473808	FOXH1, KIFC2		Holoprosencephaly sequence	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90913771.	NM_001369769.2(KIFC2):c.*413C>T GRCh37: Chr8:145699185 GRCh38: Chr8:144473802	FOXH1, KIFC2		Holoprosencephaly sequence	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90815272.	NM_003923.2(FOXH1):c.-543C>T GRCh37: Chr8:145701682 GRCh38: Chr8:144476299	FOXH1		Holoprosencephaly sequence	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90815173.	NM_003923.2(FOXH1):c.-527C>T GRCh37: Chr8:145701666 GRCh38: Chr8:144476283	FOXH1		Holoprosencephaly sequence	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90808974.	NM_003923.3(FOXH1):c.406G>T (p.Ala136Ser) GRCh37: Chr8:145700313 GRCh38: Chr8:144474930	FOXH1	A136S	Holoprosencephaly sequence, Inborn genetic diseases	Uncertain significance (Feb 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90808875.	NM_003923.3(FOXH1):c.478C>G (p.Pro160Ala) GRCh37: Chr8:145700241 GRCh38: Chr8:144474858	FOXH1	P160A	Holoprosencephaly sequence	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87971376.	NM_018055.5(NODAL):c.*729A>G GRCh37: Chr10:72191963 GRCh38: Chr10:70432207	NODAL		Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87945177.	NM_018055.5(NODAL):c.467C>T (p.Thr156Ile) GRCh37: Chr10:72195466 GRCh38: Chr10:70435710	NODAL	T23I, T156I	Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87945078.	NM_018055.5(NODAL):c.512A>T (p.Lys171Met) GRCh37: Chr10:72195421 GRCh38: Chr10:70435665	NODAL	K171M, K38M	Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87938779.	NM_018055.5(NODAL):c.*125A>C GRCh37: Chr10:72192567 GRCh38: Chr10:70432811	NODAL		Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87938680.	NM_018055.5(NODAL):c.*328G>A GRCh37: Chr10:72192364 GRCh38: Chr10:70432608	NODAL		Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87935181.	NM_018055.5(NODAL):c.*820G>C GRCh37: Chr10:72191872 GRCh38: Chr10:70432116	NODAL		Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87935082.	NM_018055.5(NODAL):c.*829T>G GRCh37: Chr10:72191863 GRCh38: Chr10:70432107	NODAL		Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87880283.	NM_018055.5(NODAL):c.*329A>C GRCh37: Chr10:72192363 GRCh38: Chr10:70432607	NODAL		Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87880184.	NM_018055.5(NODAL):c.*360A>G GRCh37: Chr10:72192332 GRCh38: Chr10:70432576	NODAL		Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87798585.	NM_018055.5(NODAL):c.555C>A (p.Pro185=) GRCh37: Chr10:72195378 GRCh38: Chr10:70435622	NODAL		Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87782386.	NM_018055.5(NODAL):c.670G>A (p.Glu224Lys) GRCh37: Chr10:72195263 GRCh38: Chr10:70435507	NODAL	E224K, E91K	Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87782287.	NM_018055.5(NODAL):c.702G>A (p.Arg234=) GRCh37: Chr10:72195231 GRCh38: Chr10:70435475	NODAL		Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87782188.	NM_018055.5(NODAL):c.819C>G (p.Ala273=) GRCh37: Chr10:72195114 GRCh38: Chr10:70435358	NODAL		Heterotaxy, visceral, 5, autosomal, Holoprosencephaly sequence	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 86185889.	NM_003923.3(FOXH1):c.572C>T (p.Pro191Leu) GRCh37: Chr8:145700147 GRCh38: Chr8:144474764	FOXH1	P191L	not provided, Holoprosencephaly sequence	Uncertain significance (Jan 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 84685090.	NM_003923.3(FOXH1):c.557C>T (p.Ala186Val) GRCh37: Chr8:145700162 GRCh38: Chr8:144474779	FOXH1	A186V	Holoprosencephaly sequence	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 83743491.	NM_003923.3(FOXH1):c.1056G>A (p.Ala352=) GRCh37: Chr8:145699663 GRCh38: Chr8:144474280	FOXH1		Holoprosencephaly sequence	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 83208992.	NC_000008.11:g.(?_144474218)_(144475776_?)dup GRCh37: Chr8:145699601-145701159	FOXH1		Holoprosencephaly sequence	Uncertain significance (Sep 16, 2021)	criteria provided, single submitter
Select item 83185993.	NC_000008.11:g.(?_144475137)_(144475776_?)dup GRCh37: Chr8:145700520-145701159	FOXH1		Holoprosencephaly sequence	Uncertain significance (Apr 24, 2019)	criteria provided, single submitter
Select item 79813394.	NM_003923.3(FOXH1):c.163A>C (p.Lys55Gln) GRCh37: Chr8:145700977 GRCh38: Chr8:144475594	FOXH1	K55Q	Inborn genetic diseases, Holoprosencephaly sequence	Conflicting interpretations of pathogenicity (Jan 6, 2023)	criteria provided, conflicting interpretations
Select item 74487295.	NM_003923.3(FOXH1):c.468G>A (p.Pro156=) GRCh37: Chr8:145700251 GRCh38: Chr8:144474868	FOXH1		Holoprosencephaly sequence	Likely benign (Feb 1, 2018)	criteria provided, single submitter
Select item 70551196.	NM_003923.3(FOXH1):c.936G>A (p.Gly312=) GRCh37: Chr8:145699783 GRCh38: Chr8:144474400	FOXH1		Holoprosencephaly sequence	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 70094297.	NM_003923.3(FOXH1):c.487C>T (p.Pro163Ser) GRCh37: Chr8:145700232 GRCh38: Chr8:144474849	FOXH1	P163S	Holoprosencephaly sequence	Likely benign (Mar 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69922698.	NM_003923.3(FOXH1):c.617C>T (p.Thr206Ile) GRCh37: Chr8:145700102 GRCh38: Chr8:144474719	FOXH1	T206I	Holoprosencephaly sequence	Benign (Jul 6, 2018)	criteria provided, single submitter
Select item 69846999.	NM_003923.3(FOXH1):c.912G>T (p.Pro304=) GRCh37: Chr8:145699807 GRCh38: Chr8:144474424	FOXH1		Holoprosencephaly sequence	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 697481100.	NM_018055.5(NODAL):c.972G>A (p.Leu324=) GRCh37: Chr10:72192764 GRCh38: Chr10:70433008	NODAL		Holoprosencephaly sequence, Heterotaxy, visceral, 5, autosomal	Conflicting interpretations of pathogenicity (Aug 22, 2022)	criteria provided, conflicting interpretations

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