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, EN2-DT, 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, LOC129389940, LOC129389941, LOC129389942, LOC129389943, LOC129389944, LOC129389945, LOC129389946, LOC129389947, LOC129389948, LOC129389949, LOC129389950, LOC129999690, LOC129999691, LOC129999692, LOC129999693, LOC129999694, LOC129999695, LOC129999696, LOC129999697, LOC129999698, LOC129999699, LOC129999700, LOC129999701, LOC129999702, LOC129999703, LOC129999704, LOC129999705, LOC129999706, LOC129999707, LOC129999708, LOC129999709, LOC129999710, LOC129999711, LOC129999712, LOC129999713, LOC129999714, LOC129999715, LOC129999716, LOC129999717, LOC129999718, LOC129999719, LOC129999720, LOC129999721, LOC129999722, LOC129999723, LOC129999724, LOC129999725, LOC129999726, LOC129999727, LOC129999728, LOC129999729, LOC129999730, LOC129999731, LOC129999732, LOC129999733, LOC129999734, LOC129999735, LOC129999736, LOC129999737, LOC129999738, LOC129999739, LOC129999740, LOC129999741, LOC129999742, LOC129999743, LOC129999744, LOC129999745, LOC129999746, LOC129999747, LOC129999748, LOC129999749, LOC129999750, LOC129999751, LOC129999752, LOC129999753, LOC129999754, LOC129999755, LOC129999756, LOC129999757, LOC129999758, LOC129999759, LOC129999760, LOC129999761, LOC129999762, LOC129999763, LOC129999764, LOC129999765, LOC129999766, LOC129999767, LOC129999768, LOC132089518, LOC132089519, LOC132089520, 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	CNPY1, DNAJB6, EN2, HTR5A, INSIG1, LMBR1, MNX1, NCAPG2, NOM1, PAXIP1, PTPRN2, RBM33, RNF32, SHH, UBE3C		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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