ClinVar for MedGen (Select 327125) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25792751.	GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1 GRCh38: Chr7:154446117-159206757	BLACE, CNPY1, DNAJB6, DPP6, DYNC2I1, EN2, ESYT2, HTR5A, HTR5A-AS1, INSIG1, INSIG1-DT, LINC00244, LINC00689, LINC01022, LINC03010, LMBR1, LOC101927914, LOC105375589, LOC105375610, LOC106049962, LOC108254663, LOC110121044, LOC110121094, LOC110121203, LOC110599567, LOC113687207, LOC113687208, LOC114004407, LOC114255744, LOC116186918, LOC121201619, LOC121201620, LOC121201621, LOC121740705, LOC121740706, LOC121740707, LOC123956275, LOC123956276, LOC123956277, LOC123956278, LOC123956279, LOC123956280, LOC123956281, LOC123956282, LOC123956283, LOC123956284, LOC123956285, LOC126860237, LOC126860238, LOC126860239, LOC126860240, LOC126860241, LOC126860242, LOC126860243, LOC126860244, LOC126860245, LOC126860246, LOC126860247, LOC126860248, LOC126860249, LOC126860250, LOC126860251, LOC126860252, LOC126860253, LOC126860254, LOC126860255, LOC126860256, LOC126860257, LOC126860258, LOC126860259, LOC126860260, LOC126860261, LOC126860262, LOC126860263, LOC126860264, LOC126860265, LOC285889, LOC389602, MIR153-2, MIR5707, MIR595, MNX1, MNX1-AS1, MNX1-AS2, NCAPG2, NOM1, PAXIP1, PAXIP1-AS2, PAXIP1-DT, PTPRN2, PTPRN2-AS1, RBM33, RBM33-DT, RNF32, RNF32-AS1, RNF32-DT, SBE2, SHH, UBE3C, VIPR2, ZRS		Holoprosencephaly 3	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25791442.	NM_000193.4(SHH):c.177C>A (p.Ser59Arg) GRCh37: Chr7:155604640 GRCh38: Chr7:155811946	SHH	S59R	Holoprosencephaly 3	Uncertain significance (Aug 29, 2023)	criteria provided, single submitter
Select item 25774343.	NM_000193.4(SHH):c.705del (p.Leu234_Tyr235insTer) GRCh37: Chr7:155596278 GRCh38: Chr7:155803584	SHH		Holoprosencephaly 3	Pathogenic (Aug 23, 2023)	no assertion criteria provided
Select item 25006964.	NM_000193.4(SHH):c.-3226_301-2327del GRCh37: Chr7:155601578-155608042 GRCh38: Chr7:155808884-155815348	SHH		Holoprosencephaly 3	Likely pathogenic	criteria provided, single submitter
Select item 24225655.	NC_000007.13:g.(?_152617597)_(158500659_?)del GRCh37: Chr7:152617597-158500659	PTPRN2, INSIG1, MNX1, PAXIP1, HTR5A, LMBR1, NCAPG2, UBE3C, SHH, RBM33, CNPY1, EN2, NOM1, DNAJB6, RNF32		Holoprosencephaly 3, not provided	Pathogenic (Jun 29, 2022)	criteria provided, single submitter
Select item 24164206.	NM_000193.4(SHH):c.450G>C (p.Thr150=) GRCh37: Chr7:155599102 GRCh38: Chr7:155806408	SHH		Holoprosencephaly 3	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 21993217.	NM_000193.4(SHH):c.495G>T (p.Ala165=) GRCh37: Chr7:155599057 GRCh38: Chr7:155806363	SHH		Holoprosencephaly 3	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 21946038.	NM_000193.4(SHH):c.276C>G (p.Thr92=) GRCh37: Chr7:155604541 GRCh38: Chr7:155811847	SHH		Holoprosencephaly 3	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 21906169.	NM_000193.4(SHH):c.1266C>T (p.Asp422=) GRCh37: Chr7:155595717 GRCh38: Chr7:155803023	SHH		Holoprosencephaly 3	Likely benign (Mar 5, 2022)	criteria provided, single submitter
Select item 218961710.	NM_000193.4(SHH):c.488G>T (p.Arg163Leu) GRCh37: Chr7:155599064 GRCh38: Chr7:155806370	SHH	R163L, R76L	Holoprosencephaly 3	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 218916811.	NM_000193.4(SHH):c.1083C>G (p.Ala361=) GRCh37: Chr7:155595900 GRCh38: Chr7:155803206	SHH		Holoprosencephaly 3	Likely benign (Sep 4, 2022)	criteria provided, single submitter
Select item 218335012.	NM_000193.4(SHH):c.488G>A (p.Arg163His) GRCh37: Chr7:155599064 GRCh38: Chr7:155806370	SHH	R76H, R163H	Holoprosencephaly 3	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 218327513.	NM_000193.4(SHH):c.1271C>T (p.Pro424Leu) GRCh37: Chr7:155595712 GRCh38: Chr7:155803018	SHH	P424L	Holoprosencephaly 3	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 217742314.	NM_000193.4(SHH):c.612G>A (p.Thr204=) GRCh37: Chr7:155596371 GRCh38: Chr7:155803677	SHH		Holoprosencephaly 3	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 217742215.	NM_000193.4(SHH):c.630C>A (p.Gly210=) GRCh37: Chr7:155596353 GRCh38: Chr7:155803659	SHH		Holoprosencephaly 3	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 216566416.	NM_000193.4(SHH):c.562+15G>A GRCh37: Chr7:155598975 GRCh38: Chr7:155806281	SHH		Holoprosencephaly 3	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 212343017.	NM_000193.4(SHH):c.923G>C (p.Arg308Pro) GRCh37: Chr7:155596060 GRCh38: Chr7:155803366	SHH	R308P	Holoprosencephaly 3, not provided	Uncertain significance (Jan 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 209974818.	NM_000193.4(SHH):c.424G>A (p.Glu142Lys) GRCh37: Chr7:155599128 GRCh38: Chr7:155806434	SHH	E55K, E142K	Holoprosencephaly 3	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 209689119.	NM_000193.4(SHH):c.858G>C (p.Glu286Asp) GRCh37: Chr7:155596125 GRCh38: Chr7:155803431	SHH	E286D	Holoprosencephaly 3	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 209362620.	NM_000193.4(SHH):c.1188C>T (p.Asp396=) GRCh37: Chr7:155595795 GRCh38: Chr7:155803101	SHH		Holoprosencephaly 3	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 208252221.	NM_000193.4(SHH):c.563-10T>C GRCh37: Chr7:155596430 GRCh38: Chr7:155803736	SHH		Holoprosencephaly 3	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 207635822.	NM_000193.4(SHH):c.1211G>A (p.Gly404Glu) GRCh37: Chr7:155595772 GRCh38: Chr7:155803078	SHH	G404E	Holoprosencephaly 3	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 206317623.	NM_000193.4(SHH):c.1201_1215dup (p.Asp405_Arg406insSerGlyGlyGlyAsp) GRCh37: Chr7:155595767-155595768 GRCh38: Chr7:155803073-155803074	SHH		Holoprosencephaly 3	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 204963824.	NM_000193.4(SHH):c.301-16C>G GRCh37: Chr7:155599267 GRCh38: Chr7:155806573	SHH		Holoprosencephaly 3	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 204159825.	NM_000193.4(SHH):c.1023C>T (p.Ala341=) GRCh37: Chr7:155595960 GRCh38: Chr7:155803266	SHH		Holoprosencephaly 3	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 203963526.	NM_000193.4(SHH):c.957C>T (p.Ala319=) GRCh37: Chr7:155596026 GRCh38: Chr7:155803332	SHH		Holoprosencephaly 3	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 202634227.	NM_022458.4(LMBR1):c.423+6638dup GRCh37: Chr7:156582444-156582445 GRCh38: Chr7:156789750-156789751	LMBR1, SHH		Holoprosencephaly 3	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 202571828.	NM_022458.4(LMBR1):c.423+349A>G GRCh37: Chr7:156588734 GRCh38: Chr7:156796040	SHH, LMBR1		Holoprosencephaly 3	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 202475129.	NM_022458.4(LMBR1):c.423+451C>G GRCh37: Chr7:156588632 GRCh38: Chr7:156795938	SHH, LMBR1		Holoprosencephaly 3	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 202070330.	NM_022458.4(LMBR1):c.424-148C>A GRCh37: Chr7:156556637 GRCh38: Chr7:156763943	SHH, LMBR1		Holoprosencephaly 3	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 201501831.	NM_022458.4(LMBR1):c.424-5566A>G GRCh37: Chr7:156562055 GRCh38: Chr7:156769361	LMBR1, SHH		Holoprosencephaly 3	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 201368532.	NM_000193.4(SHH):c.1013G>T (p.Ser338Ile) GRCh37: Chr7:155595970 GRCh38: Chr7:155803276	SHH	S338I	Holoprosencephaly 3	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 201338633.	NM_022458.4(LMBR1):c.424-223A>G GRCh37: Chr7:156556712 GRCh38: Chr7:156764018	SHH, LMBR1		Holoprosencephaly 3	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 197607334.	NM_022458.4(LMBR1):c.424-191T>C GRCh37: Chr7:156556680 GRCh38: Chr7:156763986	LMBR1, SHH		Holoprosencephaly 3	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 197518235.	NM_022458.4(LMBR1):c.423+6953A>G GRCh37: Chr7:156582130 GRCh38: Chr7:156789436	LMBR1, SHH		Holoprosencephaly 3	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 197390436.	NM_000193.4(SHH):c.301-18del GRCh37: Chr7:155599269 GRCh38: Chr7:155806575	SHH		Holoprosencephaly 3	Benign (Apr 20, 2022)	criteria provided, single submitter
Select item 197358437.	NM_022458.4(LMBR1):c.423+6638C>T GRCh37: Chr7:156582445 GRCh38: Chr7:156789751	LMBR1, SHH		Holoprosencephaly 3	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 197358338.	NM_022458.4(LMBR1):c.424-5352T>C GRCh37: Chr7:156561841 GRCh38: Chr7:156769147	SHH, LMBR1		Holoprosencephaly 3	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 197341939.	NM_022458.4(LMBR1):c.424-5633del GRCh37: Chr7:156562122 GRCh38: Chr7:156769428	LMBR1, SHH		Holoprosencephaly 3	Benign (Oct 6, 2022)	criteria provided, single submitter
Select item 197339940.	NM_022458.4(LMBR1):c.424-5213_424-5211del GRCh37: Chr7:156561700-156561702 GRCh38: Chr7:156769006-156769008	LMBR1, SHH		Holoprosencephaly 3	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 197270441.	NM_022458.4(LMBR1):c.424-15560G>A GRCh37: Chr7:156572049 GRCh38: Chr7:156779355	LMBR1, SHH		Holoprosencephaly 3	Benign (Oct 4, 2022)	criteria provided, single submitter
Select item 197265742.	NM_022458.4(LMBR1):c.424-5422C>T GRCh37: Chr7:156561911 GRCh38: Chr7:156769217	LMBR1, SHH		Holoprosencephaly 3	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 197176243.	NM_022458.4(LMBR1):c.423+7004A>G GRCh37: Chr7:156582079 GRCh38: Chr7:156789385	LMBR1, SHH		Holoprosencephaly 3	Benign (Sep 9, 2022)	criteria provided, single submitter
Select item 197105744.	NM_022458.4(LMBR1):c.424-414C>T GRCh37: Chr7:156556903 GRCh38: Chr7:156764209	LMBR1, SHH		Holoprosencephaly 3	Benign (Mar 9, 2022)	criteria provided, single submitter
Select item 196629645.	NM_000193.4(SHH):c.624G>A (p.Glu208=) GRCh37: Chr7:155596359 GRCh38: Chr7:155803665	SHH		Holoprosencephaly 3	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 194940446.	NM_000193.4(SHH):c.13G>C (p.Ala5Pro) GRCh37: Chr7:155604804 GRCh38: Chr7:155812110	SHH	A5P	Holoprosencephaly 3	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 194028647.	NM_000193.4(SHH):c.453T>G (p.Ser151=) GRCh37: Chr7:155599099 GRCh38: Chr7:155806405	SHH		Holoprosencephaly 3	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 192518948.	NM_000193.4(SHH):c.93G>T (p.Gly31=) GRCh37: Chr7:155604724 GRCh38: Chr7:155812030	SHH		Holoprosencephaly 3	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 191098849.	NM_000193.4(SHH):c.1217G>A (p.Arg406His) GRCh37: Chr7:155595766 GRCh38: Chr7:155803072	SHH	R406H	Holoprosencephaly 3	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 189745350.	NM_000193.4(SHH):c.882T>C (p.Pro294=) GRCh37: Chr7:155596101 GRCh38: Chr7:155803407	SHH		Holoprosencephaly 3	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 180621551.	NM_000193.4(SHH):c.494C>A (p.Ala165Glu) GRCh37: Chr7:155599058 GRCh38: Chr7:155806364	SHH	A165E, A78E	Holoprosencephaly 3	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 172202752.	NM_000193.4(SHH):c.607G>T (p.Ala203Ser) GRCh37: Chr7:155596376 GRCh38: Chr7:155803682	SHH	A203S	Holoprosencephaly 3	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 172135053.	NM_000193.4(SHH):c.434C>T (p.Ala145Val) GRCh37: Chr7:155599118 GRCh38: Chr7:155806424	SHH	A145V, A58V	Holoprosencephaly 3	Uncertain significance (Oct 9, 2022)	criteria provided, single submitter
Select item 171926754.	NM_000193.4(SHH):c.211G>C (p.Glu71Gln) GRCh37: Chr7:155604606 GRCh38: Chr7:155811912	SHH	E71Q	Holoprosencephaly 3	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 170949555.	NM_000193.4(SHH):c.1157_1180del (p.Leu386_Ala393del) GRCh37: Chr7:155595803-155595826 GRCh38: Chr7:155803109-155803132	SHH		Holoprosencephaly 3	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 170811056.	NM_000193.4(SHH):c.716T>C (p.Leu239Pro) GRCh37: Chr7:155596267 GRCh38: Chr7:155803573	SHH	L239P	Holoprosencephaly 3	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 170352757.	GRCh37/hg19 7q36.2-36.3(chr7:154831466-156356088) GRCh37: Chr7:154831466-156356088	INSIG1, RBM33, CNPY1, EN2, HTR5A, SHH		Holoprosencephaly 3	Pathogenic	no assertion criteria provided
Select item 167353358.	NM_000193.4(SHH):c.597C>T (p.Phe199=) GRCh37: Chr7:155596386 GRCh38: Chr7:155803692	SHH		Holoprosencephaly 3	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 166820059.	NM_022458.4(LMBR1):c.423+7000_423+7003del GRCh37: Chr7:156582080-156582083 GRCh38: Chr7:156789386-156789389	SHH, LMBR1		Holoprosencephaly 3	Benign (Oct 30, 2022)	criteria provided, single submitter
Select item 166552460.	NM_000193.4(SHH):c.562+16C>A GRCh37: Chr7:155598974 GRCh38: Chr7:155806280	SHH		Holoprosencephaly 3	Benign (Mar 4, 2022)	criteria provided, single submitter
Select item 166044961.	NM_022458.4(LMBR1):c.424-5603C>G GRCh37: Chr7:156562092 GRCh38: Chr7:156769398	SHH, LMBR1		Holoprosencephaly 3	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 165996462.	NM_022458.4(LMBR1):c.424-15649G>C GRCh37: Chr7:156572138 GRCh38: Chr7:156779444	SHH, LMBR1		Holoprosencephaly 3	Benign (Oct 22, 2022)	criteria provided, single submitter
Select item 165874363.	NM_022458.4(LMBR1):c.424-15815A>G GRCh37: Chr7:156572304 GRCh38: Chr7:156779610	SHH, LMBR1		Holoprosencephaly 3	Benign (Oct 31, 2022)	criteria provided, single submitter
Select item 165829764.	NM_022458.4(LMBR1):c.423+6810A>G GRCh37: Chr7:156582273 GRCh38: Chr7:156789579	LMBR1, SHH		Holoprosencephaly 3	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 165791265.	NM_000193.4(SHH):c.25C>T (p.Leu9=) GRCh37: Chr7:155604792 GRCh38: Chr7:155812098	SHH		Holoprosencephaly 3	Likely benign (Sep 9, 2021)	criteria provided, single submitter
Select item 165507966.	NM_000193.4(SHH):c.60G>C (p.Ser20=) GRCh37: Chr7:155604757 GRCh38: Chr7:155812063	SHH		Holoprosencephaly 3	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 165281767.	NM_022458.4(LMBR1):c.424-15786G>A GRCh37: Chr7:156572275 GRCh38: Chr7:156779581	SHH, LMBR1		Holoprosencephaly 3	Benign (Sep 23, 2022)	criteria provided, single submitter
Select item 165136868.	NM_000193.4(SHH):c.702C>G (p.Leu234=) GRCh37: Chr7:155596281 GRCh38: Chr7:155803587	SHH		Holoprosencephaly 3	Likely benign (Aug 6, 2021)	criteria provided, single submitter
Select item 163204369.	NM_022458.4(LMBR1):c.423+117A>G GRCh37: Chr7:156588966 GRCh38: Chr7:156796272	SHH, LMBR1		Holoprosencephaly 3	Benign (Oct 22, 2022)	criteria provided, single submitter
Select item 163058970.	NM_022458.4(LMBR1):c.424-5607C>T GRCh37: Chr7:156562096 GRCh38: Chr7:156769402	LMBR1, SHH		Holoprosencephaly 3	Benign (Oct 27, 2022)	criteria provided, single submitter
Select item 162050771.	NM_000193.4(SHH):c.60G>A (p.Ser20=) GRCh37: Chr7:155604757 GRCh38: Chr7:155812063	SHH		Holoprosencephaly 3	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 161944672.	NM_022458.4(LMBR1):c.424-5301G>A GRCh37: Chr7:156561790 GRCh38: Chr7:156769096	LMBR1, SHH		Holoprosencephaly 3	Benign (Jul 1, 2022)	criteria provided, single submitter
Select item 161631173.	NM_000193.4(SHH):c.888G>A (p.Gly296=) GRCh37: Chr7:155596095 GRCh38: Chr7:155803401	SHH		Holoprosencephaly 3	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 161341374.	NM_000193.4(SHH):c.12G>T (p.Leu4=) GRCh37: Chr7:155604805 GRCh38: Chr7:155812111	SHH		Holoprosencephaly 3	Likely benign (Oct 27, 2021)	criteria provided, single submitter
Select item 161203075.	NM_022458.4(LMBR1):c.424-189A>G GRCh37: Chr7:156556678 GRCh38: Chr7:156763984	LMBR1, SHH		Holoprosencephaly 3	Likely benign (Oct 28, 2021)	criteria provided, single submitter
Select item 161154876.	NM_022458.4(LMBR1):c.423+101T>C GRCh37: Chr7:156588982 GRCh38: Chr7:156796288	LMBR1, SHH		Holoprosencephaly 3	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 161036377.	NM_022458.4(LMBR1):c.424-5551T>G GRCh37: Chr7:156562040 GRCh38: Chr7:156769346	LMBR1, SHH		Holoprosencephaly 3	Benign (Oct 27, 2022)	criteria provided, single submitter
Select item 160694778.	NM_022458.4(LMBR1):c.423+6677C>T GRCh37: Chr7:156582406 GRCh38: Chr7:156789712	LMBR1, SHH		Holoprosencephaly 3	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 160669279.	NM_022458.4(LMBR1):c.424-473C>T GRCh37: Chr7:156556962 GRCh38: Chr7:156764268	SHH, LMBR1		Holoprosencephaly 3	Likely benign (Oct 22, 2022)	criteria provided, single submitter
Select item 160663480.	NM_022458.4(LMBR1):c.424-15749C>G GRCh37: Chr7:156572238 GRCh38: Chr7:156779544	LMBR1, SHH		Holoprosencephaly 3	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 160053181.	NM_022458.4(LMBR1):c.424-5478G>A GRCh37: Chr7:156561967 GRCh38: Chr7:156769273	SHH, LMBR1		Holoprosencephaly 3	Benign (Oct 24, 2022)	criteria provided, single submitter
Select item 159515282.	NM_022458.4(LMBR1):c.424-5482T>C GRCh37: Chr7:156561971 GRCh38: Chr7:156769277	SHH, LMBR1		Holoprosencephaly 3	Benign (Oct 24, 2022)	criteria provided, single submitter
Select item 158937183.	NM_022458.4(LMBR1):c.423+6862A>C GRCh37: Chr7:156582221 GRCh38: Chr7:156789527	SHH, LMBR1		Holoprosencephaly 3	Benign (Oct 19, 2022)	criteria provided, single submitter
Select item 158777484.	NM_022458.4(LMBR1):c.423+341T>C GRCh37: Chr7:156588742 GRCh38: Chr7:156796048	LMBR1, SHH		Holoprosencephaly 3	Likely benign (Nov 17, 2021)	criteria provided, single submitter
Select item 158603285.	NM_022458.4(LMBR1):c.424-5571C>T GRCh37: Chr7:156562060 GRCh38: Chr7:156769366	LMBR1, SHH		Holoprosencephaly 3	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 158494786.	NM_022458.4(LMBR1):c.423+7042C>T GRCh37: Chr7:156582041 GRCh38: Chr7:156789347	LMBR1, SHH		Holoprosencephaly 3	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 158461787.	NM_022458.4(LMBR1):c.424-5613A>C GRCh37: Chr7:156562102 GRCh38: Chr7:156769408	LMBR1, SHH		Holoprosencephaly 3	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 158049988.	NM_000193.4(SHH):c.600G>A (p.Pro200=) GRCh37: Chr7:155596383 GRCh38: Chr7:155803689	SHH		Holoprosencephaly 3	Likely benign (Oct 18, 2021)	criteria provided, single submitter
Select item 157055589.	NM_022458.4(LMBR1):c.423+7043G>A GRCh37: Chr7:156582040 GRCh38: Chr7:156789346	LMBR1, SHH		Holoprosencephaly 3	Benign (Nov 3, 2022)	criteria provided, single submitter
Select item 156895590.	NM_022458.4(LMBR1):c.423+111G>A GRCh37: Chr7:156588972 GRCh38: Chr7:156796278	LMBR1, SHH		Holoprosencephaly 3	Benign (Oct 13, 2022)	criteria provided, single submitter
Select item 156828591.	NM_022458.4(LMBR1):c.424-15833T>C GRCh37: Chr7:156572322 GRCh38: Chr7:156779628	SHH, LMBR1		Holoprosencephaly 3	Benign (Oct 3, 2022)	criteria provided, single submitter
Select item 156213192.	NM_000193.4(SHH):c.301-17T>A GRCh37: Chr7:155599268 GRCh38: Chr7:155806574	SHH		Holoprosencephaly 3	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 154966693.	NM_022458.4(LMBR1):c.424-15747A>G GRCh37: Chr7:156572236 GRCh38: Chr7:156779542	LMBR1, SHH		Holoprosencephaly 3	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 154062594.	NM_000193.4(SHH):c.1176C>T (p.Pro392=) GRCh37: Chr7:155595807 GRCh38: Chr7:155803113	SHH		Holoprosencephaly 3	Likely benign (Mar 12, 2021)	criteria provided, single submitter
Select item 154004595.	NM_000193.4(SHH):c.834C>T (p.Asn278=) GRCh37: Chr7:155596149 GRCh38: Chr7:155803455	SHH		Holoprosencephaly 3	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 153682096.	NM_000193.4(SHH):c.1134G>A (p.Ala378=) GRCh37: Chr7:155595849 GRCh38: Chr7:155803155	SHH		Holoprosencephaly 3	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 152129097.	NM_000193.4(SHH):c.12_29dup (p.Ala5_Leu10dup) GRCh37: Chr7:155604787-155604788 GRCh38: Chr7:155812093-155812094	SHH		Holoprosencephaly 3	Uncertain significance (Sep 25, 2021)	criteria provided, single submitter
Select item 149900998.	NM_000193.4(SHH):c.596_604del (p.Phe199_Gly201del) GRCh37: Chr7:155596379-155596387 GRCh38: Chr7:155803685-155803693	SHH		Holoprosencephaly 3	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 148948199.	NM_000193.4(SHH):c.961C>A (p.Arg321Ser) GRCh37: Chr7:155596022 GRCh38: Chr7:155803328	SHH	R321S	Holoprosencephaly 3	Uncertain significance (Nov 10, 2021)	criteria provided, single submitter
Select item 1488729100.	NM_000193.4(SHH):c.766G>C (p.Glu256Gln) GRCh37: Chr7:155596217 GRCh38: Chr7:155803523	SHH	E256Q	Holoprosencephaly 3	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter

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