ClinVar for MedGen (Select 481845) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25849621.	NM_001378964.1(CDON):c.2474G>A (p.Arg825His) GRCh37: Chr11:125864836 GRCh38: Chr11:125994941	CDON	R825H	Holoprosencephaly 11	Uncertain significance	criteria provided, single submitter
Select item 24398892.	NM_001378964.1(CDON):c.644C>G (p.Pro215Arg) GRCh37: Chr11:125887267 GRCh38: Chr11:126017372	CDON	P215R	Holoprosencephaly 11	Uncertain significance (Jul 10, 2019)	criteria provided, single submitter
Select item 24398883.	NM_001378964.1(CDON):c.101dup (p.Pro35fs) GRCh37: Chr11:125891390-125891391 GRCh38: Chr11:126021495-126021496	CDON	P35fs	Holoprosencephaly 11	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 24263174.	NC_000011.9:g.(?_123504851)_(126163012_?)del GRCh37: Chr11:123504851-126163012	ACRV1, CCDC15, CDON, CHEK1, DDX25, EI24, ESAM, FAM118B, FEZ1, FOXRED1, HEPACAM, HEPN1, HYLS1, MSANTD2, NRGN, OR10G4, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G5, PANX3, PATE1, PATE2, PATE3, PATE4, PKNOX2, PUS3, ROBO3, ROBO4, RPUSD4, SCN3B, SIAE, SLC37A2, SPA17, SRPRA, STT3A, TBRG1, TIRAP, TMEM218, TMEM225, VSIG2, VWA5A, ZNF202		not provided	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 24199345.	NM_001378964.1(CDON):c.1365G>A (p.Ser455=) GRCh37: Chr11:125880423 GRCh38: Chr11:126010528	CDON		Holoprosencephaly 11	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 24171136.	NM_001378964.1(CDON):c.3698C>G (p.Pro1233Arg) GRCh37: Chr11:125830934 GRCh38: Chr11:125961039	CDON	P1233R, P1256R	Holoprosencephaly 11	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 24170837.	NM_001378964.1(CDON):c.2467T>G (p.Ser823Ala) GRCh37: Chr11:125864843 GRCh38: Chr11:125994948	CDON	S823A	Holoprosencephaly 11	Uncertain significance (Sep 24, 2022)	criteria provided, single submitter
Select item 23866668.	NM_001378964.1(CDON):c.2383G>A (p.Val795Ile) GRCh37: Chr11:125864927 GRCh38: Chr11:125995032	CDON	V795I	Inborn genetic diseases, Holoprosencephaly 11	Conflicting interpretations of pathogenicity (Dec 20, 2022)	criteria provided, conflicting interpretations
Select item 21830389.	NM_001378964.1(CDON):c.3335G>A (p.Arg1112Gln) GRCh37: Chr11:125848220 GRCh38: Chr11:125978325	CDON	R1112Q	Holoprosencephaly 11	Uncertain significance (Dec 1, 2021)	criteria provided, single submitter
Select item 217293010.	NM_001378964.1(CDON):c.1227G>A (p.Thr409=) GRCh37: Chr11:125880561 GRCh38: Chr11:126010666	CDON		Holoprosencephaly 11	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 216072011.	NM_001378964.1(CDON):c.891A>G (p.Gly297=) GRCh37: Chr11:125887020 GRCh38: Chr11:126017125	CDON		Holoprosencephaly 11	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 215929212.	NM_001378964.1(CDON):c.2026+6T>G GRCh37: Chr11:125873791 GRCh38: Chr11:126003896	CDON		Holoprosencephaly 11	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 215906613.	NM_001378964.1(CDON):c.2092G>A (p.Val698Ile) GRCh37: Chr11:125871680 GRCh38: Chr11:126001785	CDON	V698I	Holoprosencephaly 11	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 215842214.	NM_001378964.1(CDON):c.2036C>A (p.Ala679Glu) GRCh37: Chr11:125871736 GRCh38: Chr11:126001841	CDON	A679E	Holoprosencephaly 11	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 215421515.	NM_001378964.1(CDON):c.979G>A (p.Ala327Thr) GRCh37: Chr11:125885355 GRCh38: Chr11:126015460	CDON	A327T	Holoprosencephaly 11	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 215358116.	NM_001378964.1(CDON):c.3258T>A (p.His1086Gln) GRCh37: Chr11:125850962 GRCh38: Chr11:125981067	CDON	H1086Q	Inborn genetic diseases, Holoprosencephaly 11	Conflicting interpretations of pathogenicity (Oct 14, 2022)	criteria provided, conflicting interpretations
Select item 215221517.	NM_001378964.1(CDON):c.1989A>T (p.Glu663Asp) GRCh37: Chr11:125873834 GRCh38: Chr11:126003939	CDON	E663D	Holoprosencephaly 11	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 214730318.	NM_001378964.1(CDON):c.101A>C (p.Glu34Ala) GRCh37: Chr11:125891391 GRCh38: Chr11:126021496	CDON	E34A	Holoprosencephaly 11	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 214412119.	NM_001378964.1(CDON):c.3560G>A (p.Arg1187His) GRCh37: Chr11:125831690 GRCh38: Chr11:125961795	CDON	R1187H	CDON-related condition, Inborn genetic diseases, Holoprosencephaly 11	Conflicting interpretations of pathogenicity (Jul 19, 2023)	criteria provided, conflicting interpretations
Select item 213474320.	NM_001378964.1(CDON):c.2995+16A>G GRCh37: Chr11:125853751 GRCh38: Chr11:125983856	CDON		Holoprosencephaly 11	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 210872621.	NM_001378964.1(CDON):c.65C>G (p.Ser22Cys) GRCh37: Chr11:125893307 GRCh38: Chr11:126023412	CDON	S22C	Holoprosencephaly 11	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 210811422.	NM_001378964.1(CDON):c.3761C>T (p.Pro1254Leu) GRCh37: Chr11:125830871 GRCh38: Chr11:125960976	CDON	P1277L, P1254L	Holoprosencephaly 11	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 209362823.	NM_001378964.1(CDON):c.3357-2A>G GRCh37: Chr11:125831895 GRCh38: Chr11:125962000	CDON		Holoprosencephaly 11	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 207433724.	NM_001378964.1(CDON):c.1123G>T (p.Val375Phe) GRCh37: Chr11:125885211 GRCh38: Chr11:126015316	CDON	V375F	Holoprosencephaly 11	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 207365725.	NM_001378964.1(CDON):c.2631C>T (p.Tyr877=) GRCh37: Chr11:125864198 GRCh38: Chr11:125994303	CDON		Holoprosencephaly 11	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 207359926.	NM_001378964.1(CDON):c.2091C>G (p.Pro697=) GRCh37: Chr11:125871681 GRCh38: Chr11:126001786	CDON		Holoprosencephaly 11	Likely benign (Feb 1, 2022)	criteria provided, single submitter
Select item 207207527.	NM_001378964.1(CDON):c.173G>A (p.Arg58His) GRCh37: Chr11:125891319 GRCh38: Chr11:126021424	CDON	R58H	Inborn genetic diseases, Holoprosencephaly 11	Conflicting interpretations of pathogenicity (Jun 24, 2022)	criteria provided, conflicting interpretations
Select item 207058228.	NM_001378964.1(CDON):c.2868C>A (p.Thr956=) GRCh37: Chr11:125853894 GRCh38: Chr11:125983999	CDON		Holoprosencephaly 11	Benign (Aug 22, 2022)	criteria provided, single submitter
Select item 206747629.	NM_001378964.1(CDON):c.1943C>T (p.Ser648Phe) GRCh37: Chr11:125873880 GRCh38: Chr11:126003985	CDON	S648F	Holoprosencephaly 11	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 205860130.	NM_001378964.1(CDON):c.25T>G (p.Cys9Gly) GRCh37: Chr11:125893347 GRCh38: Chr11:126023452	CDON	C9G	Holoprosencephaly 11	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 204810731.	NM_001378964.1(CDON):c.3614C>T (p.Pro1205Leu) GRCh37: Chr11:125831636 GRCh38: Chr11:125961741	CDON	P1205L	Holoprosencephaly 11	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 204801332.	NM_001378964.1(CDON):c.2278C>T (p.Arg760Trp) GRCh37: Chr11:125867186 GRCh38: Chr11:125997291	CDON	R760W	Holoprosencephaly 11, Inborn genetic diseases	Uncertain significance (Jun 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204588333.	NM_001378964.1(CDON):c.3689T>A (p.Ile1230Asn) GRCh37: Chr11:125830943 GRCh38: Chr11:125961048	CDON	I1253N, I1230N	Holoprosencephaly 11	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 204431634.	NM_001378964.1(CDON):c.1687G>T (p.Val563Leu) GRCh37: Chr11:125875818 GRCh38: Chr11:126005923	CDON	V563L	Holoprosencephaly 11	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 204308435.	NM_001378964.1(CDON):c.1485G>C (p.Ala495=) GRCh37: Chr11:125880303 GRCh38: Chr11:126010408	CDON		Holoprosencephaly 11	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 204213636.	NM_001378964.1(CDON):c.746C>T (p.Pro249Leu) GRCh37: Chr11:125887165 GRCh38: Chr11:126017270	CDON	P249L	Holoprosencephaly 11, not provided	Uncertain significance (Feb 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 203716437.	NM_001378964.1(CDON):c.3244G>A (p.Val1082Met) GRCh37: Chr11:125850976 GRCh38: Chr11:125981081	CDON	V1082M	Holoprosencephaly 11	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 203513938.	NM_001378964.1(CDON):c.3349A>G (p.Asn1117Asp) GRCh37: Chr11:125848206 GRCh38: Chr11:125978311	CDON	N1117D	Holoprosencephaly 11	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 201219739.	NM_001378964.1(CDON):c.3367A>G (p.Lys1123Glu) GRCh37: Chr11:125831883 GRCh38: Chr11:125961988	CDON	K1123E	Holoprosencephaly 11	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 200759840.	NM_001378964.1(CDON):c.1320C>G (p.Asp440Glu) GRCh37: Chr11:125880468 GRCh38: Chr11:126010573	CDON	D440E	Holoprosencephaly 11	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 200716641.	NM_001378964.1(CDON):c.953T>C (p.Leu318Pro) GRCh37: Chr11:125885381 GRCh38: Chr11:126015486	CDON	L318P	Holoprosencephaly 11	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 199777742.	NM_001378964.1(CDON):c.641-19A>G GRCh37: Chr11:125887289 GRCh38: Chr11:126017394	CDON		Holoprosencephaly 11	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 199247443.	NM_001378964.1(CDON):c.77-4G>C GRCh37: Chr11:125891419 GRCh38: Chr11:126021524	CDON		Holoprosencephaly 11	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 197519544.	NM_001378964.1(CDON):c.2348G>A (p.Arg783His) GRCh37: Chr11:125867116 GRCh38: Chr11:125997221	CDON	R783H	CDON-related condition, Holoprosencephaly 11	Uncertain significance (Jun 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 197346345.	NM_001378964.1(CDON):c.2286G>A (p.Arg762=) GRCh37: Chr11:125867178 GRCh38: Chr11:125997283	CDON		Holoprosencephaly 11	Benign (Sep 27, 2022)	criteria provided, single submitter
Select item 197337946.	NM_001378964.1(CDON):c.2001C>T (p.Ala667=) GRCh37: Chr11:125873822 GRCh38: Chr11:126003927	CDON		Holoprosencephaly 11	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 196553747.	NM_001378964.1(CDON):c.1553-9T>C GRCh37: Chr11:125875961 GRCh38: Chr11:126006066	CDON		Holoprosencephaly 11	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 195532848.	NM_001378964.1(CDON):c.2159-9C>T GRCh37: Chr11:125867314 GRCh38: Chr11:125997419	CDON		Holoprosencephaly 11	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 194532849.	NM_001378964.1(CDON):c.1389A>C (p.Ser463=) GRCh37: Chr11:125880399 GRCh38: Chr11:126010504	CDON		Holoprosencephaly 11	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 193334350.	NM_001378964.1(CDON):c.1280A>G (p.Asn427Ser) GRCh37: Chr11:125880508 GRCh38: Chr11:126010613	CDON	N427S	Holoprosencephaly 11	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 192541951.	NM_001378964.1(CDON):c.3318_3325del (p.Leu1106_Glu1107insTer) GRCh37: Chr11:125848230-125848237 GRCh38: Chr11:125978335-125978342	CDON		not provided, Holoprosencephaly 11	Uncertain significance (Sep 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 191181952.	NM_001378964.1(CDON):c.2546A>C (p.Tyr849Ser) GRCh37: Chr11:125864283 GRCh38: Chr11:125994388	CDON	Y849S	Holoprosencephaly 11	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 180617153.	NM_001378964.1(CDON):c.640+1G>A GRCh37: Chr11:125888224 GRCh38: Chr11:126018329	CDON		Holoprosencephaly 11	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 180325554.	NM_001378964.1(CDON):c.1177G>A (p.Gly393Arg) GRCh37: Chr11:125885157 GRCh38: Chr11:126015262	CDON	G393R	Holoprosencephaly 11	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 172188555.	NM_001378964.1(CDON):c.866C>T (p.Ser289Phe) GRCh37: Chr11:125887045 GRCh38: Chr11:126017150	CDON	S289F	Holoprosencephaly 11	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 171968756.	NM_001378964.1(CDON):c.2282T>C (p.Met761Thr) GRCh37: Chr11:125867182 GRCh38: Chr11:125997287	CDON	M761T	Holoprosencephaly 11	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 171932557.	NM_001378964.1(CDON):c.2467T>C (p.Ser823Pro) GRCh37: Chr11:125864843 GRCh38: Chr11:125994948	CDON	S823P	Holoprosencephaly 11	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 171892058.	NM_001378964.1(CDON):c.1387T>A (p.Ser463Thr) GRCh37: Chr11:125880401 GRCh38: Chr11:126010506	CDON	S463T	Holoprosencephaly 11	Uncertain significance (Sep 18, 2022)	criteria provided, single submitter
Select item 171717259.	NM_001378964.1(CDON):c.552G>C (p.Glu184Asp) GRCh37: Chr11:125888313 GRCh38: Chr11:126018418	CDON	E184D	Holoprosencephaly 11	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 171583160.	NM_001378964.1(CDON):c.811T>G (p.Leu271Val) GRCh37: Chr11:125887100 GRCh38: Chr11:126017205	CDON	L271V	Holoprosencephaly 11	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 170441261.	NM_001378964.1(CDON):c.3334C>T (p.Arg1112Ter) GRCh37: Chr11:125848221 GRCh38: Chr11:125978326	CDON	R1112*	Holoprosencephaly 11	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 165976262.	NM_001378964.1(CDON):c.2307A>G (p.Ala769=) GRCh37: Chr11:125867157 GRCh38: Chr11:125997262	CDON		Holoprosencephaly 11	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 163407463.	NM_001378964.1(CDON):c.350-19G>A GRCh37: Chr11:125889679 GRCh38: Chr11:126019784	CDON		Holoprosencephaly 11	Benign (Oct 17, 2022)	criteria provided, single submitter
Select item 162272164.	NM_001378964.1(CDON):c.1485G>A (p.Ala495=) GRCh37: Chr11:125880303 GRCh38: Chr11:126010408	CDON		Holoprosencephaly 11	Likely benign (Apr 11, 2021)	criteria provided, single submitter
Select item 161521165.	NM_001378964.1(CDON):c.2544+7A>G GRCh37: Chr11:125864759 GRCh38: Chr11:125994864	CDON		Holoprosencephaly 11	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 161510166.	NM_001378964.1(CDON):c.789A>C (p.Ala263=) GRCh37: Chr11:125887122 GRCh38: Chr11:126017227	CDON		Holoprosencephaly 11	Likely benign (Nov 4, 2021)	criteria provided, single submitter
Select item 160707367.	NM_001378964.1(CDON):c.76+16G>A GRCh37: Chr11:125893280 GRCh38: Chr11:126023385	CDON		Holoprosencephaly 11	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 160076168.	NM_001378964.1(CDON):c.3631+9G>A GRCh37: Chr11:125831610 GRCh38: Chr11:125961715	CDON	G1214S	Holoprosencephaly 11	Benign (Jan 12, 2022)	criteria provided, single submitter
Select item 159441869.	NM_001378964.1(CDON):c.3099C>T (p.His1033=) GRCh37: Chr11:125851121 GRCh38: Chr11:125981226	CDON		Holoprosencephaly 11	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 158484770.	NM_001378964.1(CDON):c.1254C>T (p.Asp418=) GRCh37: Chr11:125880534 GRCh38: Chr11:126010639	CDON		Holoprosencephaly 11	Likely benign (May 28, 2021)	criteria provided, single submitter
Select item 157582571.	NM_001378964.1(CDON):c.1198+15C>T GRCh37: Chr11:125885121 GRCh38: Chr11:126015226	CDON		Holoprosencephaly 11	Likely benign (Jun 14, 2021)	criteria provided, single submitter
Select item 156074672.	NM_001378964.1(CDON):c.76+14del GRCh37: Chr11:125893282 GRCh38: Chr11:126023387	CDON		Holoprosencephaly 11	Likely benign (Aug 4, 2021)	criteria provided, single submitter
Select item 153010473.	NM_001378964.1(CDON):c.1746A>T (p.Ile582=) GRCh37: Chr11:125875759 GRCh38: Chr11:126005864	CDON		Holoprosencephaly 11	Likely benign (Jul 24, 2021)	criteria provided, single submitter
Select item 149664774.	NM_001378964.1(CDON):c.1025A>G (p.Asn342Ser) GRCh37: Chr11:125885309 GRCh38: Chr11:126015414	CDON	N342S	Holoprosencephaly 11, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Nov 15, 2021)	criteria provided, conflicting interpretations
Select item 149155175.	NM_001378964.1(CDON):c.2770A>G (p.Lys924Glu) GRCh37: Chr11:125859535 GRCh38: Chr11:125989640	CDON	K924E	Holoprosencephaly 11, not provided	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 147698976.	NM_001378964.1(CDON):c.620G>A (p.Gly207Asp) GRCh37: Chr11:125888245 GRCh38: Chr11:126018350	CDON	G207D	Holoprosencephaly 11	Uncertain significance (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147354977.	NM_001378964.1(CDON):c.23_25dup (p.Leu8dup) GRCh37: Chr11:125893346-125893347 GRCh38: Chr11:126023451-126023452	CDON		Holoprosencephaly 11	Uncertain significance (Nov 2, 2021)	criteria provided, single submitter
Select item 147100578.	NM_001378964.1(CDON):c.1404G>T (p.Leu468Phe) GRCh37: Chr11:125880384 GRCh38: Chr11:126010489	CDON	L468F	Holoprosencephaly 11	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 146871779.	NM_001378964.1(CDON):c.50C>A (p.Thr17Lys) GRCh37: Chr11:125893322 GRCh38: Chr11:126023427	CDON	T17K	Holoprosencephaly 11	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 146103980.	NM_001378964.1(CDON):c.2205A>G (p.Thr735=) GRCh37: Chr11:125867259 GRCh38: Chr11:125997364	CDON		Holoprosencephaly 11	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 144239381.	NM_001378964.1(CDON):c.1255G>A (p.Gly419Arg) GRCh37: Chr11:125880533 GRCh38: Chr11:126010638	CDON	G419R	Holoprosencephaly 11	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 143917482.	NM_001378964.1(CDON):c.2071G>T (p.Val691Leu) GRCh37: Chr11:125871701 GRCh38: Chr11:126001806	CDON	V691L	Holoprosencephaly 11	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 143576683.	NM_001378964.1(CDON):c.1220T>C (p.Ile407Thr) GRCh37: Chr11:125880568 GRCh38: Chr11:126010673	CDON	I407T	Holoprosencephaly 11, Holoprosencephaly spectrum disorder	Uncertain significance (Jan 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143349384.	NM_001378964.1(CDON):c.3622_3631del (p.Phe1208fs) GRCh37: Chr11:125831619-125831628 GRCh38: Chr11:125961724-125961733	CDON	F1208fs	Holoprosencephaly 11	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 142291085.	NM_001378964.1(CDON):c.305G>A (p.Ser102Asn) GRCh37: Chr11:125891187 GRCh38: Chr11:126021292	CDON	S102N	Holoprosencephaly 11	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 141970186.	NM_001378964.1(CDON):c.371C>T (p.Ser124Phe) GRCh37: Chr11:125889639 GRCh38: Chr11:126019744	CDON	S124F	Holoprosencephaly 11	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 141755887.	NM_001378964.1(CDON):c.1494del (p.Lys497_Tyr498insTer) GRCh37: Chr11:125880294 GRCh38: Chr11:126010399	CDON		Holoprosencephaly 11	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 141657688.	NM_001378964.1(CDON):c.1699C>T (p.Pro567Ser) GRCh37: Chr11:125875806 GRCh38: Chr11:126005911	CDON	P567S	Holoprosencephaly 11	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 141486489.	NM_001378964.1(CDON):c.469C>T (p.Arg157Trp) GRCh37: Chr11:125889541 GRCh38: Chr11:126019646	CDON	R157W	Holoprosencephaly 11	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 139941090.	NM_001378964.1(CDON):c.3776A>T (p.Gln1259Leu) GRCh37: Chr11:125830856 GRCh38: Chr11:125960961	CDON	Q1282L, Q1259L	Holoprosencephaly 11	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 139875991.	NM_001378964.1(CDON):c.3100G>A (p.Gly1034Arg) GRCh37: Chr11:125851120 GRCh38: Chr11:125981225	CDON	G1034R	Holoprosencephaly 11, Inborn genetic diseases	Conflicting interpretations of pathogenicity (May 30, 2023)	criteria provided, conflicting interpretations
Select item 139377792.	NM_001378964.1(CDON):c.2230C>T (p.Arg744Trp) GRCh37: Chr11:125867234 GRCh38: Chr11:125997339	CDON	R744W	Holoprosencephaly 11	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 138941893.	NM_001378964.1(CDON):c.1951T>C (p.Tyr651His) GRCh37: Chr11:125873872 GRCh38: Chr11:126003977	CDON	Y651H	Inborn genetic diseases, Holoprosencephaly 11	Uncertain significance (Jun 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 138791194.	NM_001378964.1(CDON):c.3515C>A (p.Pro1172Gln) GRCh37: Chr11:125831735 GRCh38: Chr11:125961840	CDON	P1172Q	Holoprosencephaly 11	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 137592795.	NC_000011.9:g.(?_123504851)_(126163012_?)dup GRCh37: Chr11:123504851-126163012	ACRV1, CCDC15, CDON, CHEK1, DDX25, EI24, ESAM, FAM118B, FEZ1, FOXRED1, HEPACAM, HEPN1, HYLS1, MSANTD2, NRGN, OR10G4, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G5, PANX3, PATE1, PATE2, PATE3, PATE4, PKNOX2, PUS3, ROBO3, ROBO4, RPUSD4, SCN3B, SIAE, SLC37A2, SPA17, SRPRA, STT3A, TBRG1, TIRAP, TMEM218, TMEM225, VSIG2, VWA5A, ZNF202		Holoprosencephaly 11	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 136618596.	NM_001378964.1(CDON):c.1664C>T (p.Pro555Leu) GRCh37: Chr11:125875841 GRCh38: Chr11:126005946	CDON	P555L	Holoprosencephaly 11	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 135802897.	NM_001378964.1(CDON):c.2624G>A (p.Ser875Asn) GRCh37: Chr11:125864205 GRCh38: Chr11:125994310	CDON	S875N	not provided, Holoprosencephaly 11	Uncertain significance (Mar 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 134793298.	NM_001378964.1(CDON):c.3784C>T (p.Arg1262Trp) GRCh37: Chr11:125830848 GRCh38: Chr11:125960953	CDON	R1285W, R1262W	Holoprosencephaly 11	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 117059799.	NM_001378964.1(CDON):c.2535A>G (p.Leu845=) GRCh37: Chr11:125864775 GRCh38: Chr11:125994880	CDON		Holoprosencephaly 11	Benign (Oct 9, 2020)	criteria provided, single submitter
Select item 1141617100.	NM_001378964.1(CDON):c.2268C>T (p.Val756=) GRCh37: Chr11:125867196 GRCh38: Chr11:125997301	CDON		Holoprosencephaly 11	Likely benign (Jul 26, 2022)	criteria provided, single submitter

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