ClinVar for MedGen (Select 327125) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254603	NM_000193.4(SHH):c.1304A>G (p.Tyr435Cys)	SHH (Y435C)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GLikely pathogenic
Select item 3254599	NM_000193.4(SHH):c.136C>T (p.Gln46Ter)	SHH (Q46*)	Single nucleotide variant (nonsense)	Holoprosencephaly 3	GPathogenic
Select item 3242354	NM_000193.4(SHH):c.143T>C (p.Ile48Thr)	SHH (I48T)	Single nucleotide variant (missense variant)	Holoprosencephaly 3	GLikely benign
Select item 3064975	NM_000193.4(SHH):c.833_836dup (p.Asp279fs)	SHH (D279fs)	Duplication (frameshift variant +1 more)	Holoprosencephaly 3	GLikely pathogenic
Select item 3062081	NM_000193.4(SHH):c.812T>C (p.Leu271Pro)	SHH (L271P)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GLikely pathogenic
Select item 3021110	NM_000193.4(SHH):c.1322A>G (p.Gln441Arg)	SHH (Q441R)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 3011936	NM_000193.4(SHH):c.1365G>A (p.Leu455=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 2967886	NM_000193.4(SHH):c.23T>C (p.Leu8Pro)	SHH (L8P)	Single nucleotide variant (missense variant)	Holoprosencephaly 3	GUncertain significance
Select item 2913996	NM_000193.4(SHH):c.1155G>A (p.Ala385=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 2910159	NM_000193.4(SHH):c.52G>T (p.Val18Leu)	SHH (V18L)	Single nucleotide variant (missense variant)	Holoprosencephaly 3	GUncertain significance
Select item 2902943	NM_000193.4(SHH):c.780G>A (p.Pro260=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3 +1 more	GBenign/Likely benign
Select item 2892612	NM_000193.4(SHH):c.1263C>T (p.Ala421=)	SHH	Single nucleotide variant (intron variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 2886140	NM_000193.4(SHH):c.585G>T (p.Ser195=)	SHH	Single nucleotide variant (synonymous variant +1 more)	SHH-related disorder +1 more	GLikely benign
Select item 2880605	NM_000193.4(SHH):c.905G>A (p.Arg302Gln)	SHH (R302Q)	Single nucleotide variant (intron variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 2880093	NM_022458.4(LMBR1):c.423+6593G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2879963	NM_022458.4(LMBR1):c.423+6740G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2879429	NM_022458.4(LMBR1):c.423+248A>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2879058	NM_022458.4(LMBR1):c.423+396G>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2878718	NM_022458.4(LMBR1):c.424-396C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2878473	NM_022458.4(LMBR1):c.424-70A>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2878179	NM_022458.4(LMBR1):c.424-15799A>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2877959	NM_022458.4(LMBR1):c.424-5324G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2877580	NM_022458.4(LMBR1):c.424-15500_424-15497del	LMBR1, SHH	Deletion (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2877504	NM_022458.4(LMBR1):c.423+6945G>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2877432	NM_022458.4(LMBR1):c.423+134A>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2876370	NM_022458.4(LMBR1):c.424-5546C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2876297	NM_022458.4(LMBR1):c.423+499T>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2875793	NM_022458.4(LMBR1):c.424-149A>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2875218	NM_022458.4(LMBR1):c.424-218T>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2874568	NM_022458.4(LMBR1):c.424-472G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2874156	NM_022458.4(LMBR1):c.424-160A>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2873949	NM_022458.4(LMBR1):c.423+419C>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2873764	NM_022458.4(LMBR1):c.423+6745T>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2872618	NM_022458.4(LMBR1):c.423+6693C>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2872246	NM_022458.4(LMBR1):c.424-383C>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2872179	NM_022458.4(LMBR1):c.424-5299G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2872127	NM_022458.4(LMBR1):c.423+328G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2872090	NM_022458.4(LMBR1):c.424-15726A>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2871369	NM_022458.4(LMBR1):c.424-255T>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2871052	NM_022458.4(LMBR1):c.424-15737del	LMBR1, SHH	Deletion (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2870990	NM_022458.4(LMBR1):c.423+7001A>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2870959	NM_022458.4(LMBR1):c.424-5238_424-5231del	LMBR1, SHH	Deletion (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2870921	NM_022458.4(LMBR1):c.424-15453T>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2870671	NM_022458.4(LMBR1):c.424-5227T>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2870151	NM_022458.4(LMBR1):c.423+6789C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2870047	NM_022458.4(LMBR1):c.424-409C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2869838	NM_022458.4(LMBR1):c.424-5255C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2869831	NM_022458.4(LMBR1):c.423+6993_423+6994del	LMBR1, SHH	Deletion (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2869557	NM_022458.4(LMBR1):c.423+315G>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2869175	NM_022458.4(LMBR1):c.424-15409del	LMBR1, SHH	Deletion (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2869099	NM_022458.4(LMBR1):c.423+365G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2868929	NM_022458.4(LMBR1):c.424-15409A>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2868753	NM_022458.4(LMBR1):c.423+6846C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2868735	NM_022458.4(LMBR1):c.423+6834T>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2868734	NM_022458.4(LMBR1):c.424-15675C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GLikely benign
Select item 2868429	NM_022458.4(LMBR1):c.424-5641C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2868395	NM_022458.4(LMBR1):c.424-5609C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2868355	NM_022458.4(LMBR1):c.424-5392C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2868303	NM_022458.4(LMBR1):c.424-5651G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GBenign
Select item 2868217	NM_022458.4(LMBR1):c.424-5506G>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2868165	NM_022458.4(LMBR1):c.423+6793A>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2867394	NM_022458.4(LMBR1):c.424-15579A>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2867382	NM_022458.4(LMBR1):c.424-423A>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2866127	NM_022458.4(LMBR1):c.424-5621G>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GBenign
Select item 2864980	NM_022458.4(LMBR1):c.424-473C>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2864655	NM_022458.4(LMBR1):c.424-15415A>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2861022	NM_022458.4(LMBR1):c.423+6944C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GLikely benign
Select item 2857951	NM_022458.4(LMBR1):c.424-15581T>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2855586	NM_022458.4(LMBR1):c.424-5669T>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2854749	NM_000193.4(SHH):c.1334G>A (p.Trp445Ter)	SHH (W445*)	Single nucleotide variant (nonsense +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 2850927	NM_022458.4(LMBR1):c.424-15434A>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2849865	NM_000193.4(SHH):c.770C>T (p.Thr257Met)	SHH (T257M)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 2842192	NM_022458.4(LMBR1):c.423+280T>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2841609	NM_022458.4(LMBR1):c.424-5623T>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2835904	NM_000193.4(SHH):c.1094C>T (p.Ala365Val)	SHH (A365V)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 2827625	NM_000193.4(SHH):c.150T>C (p.Asn50=)	SHH	Single nucleotide variant (synonymous variant)	Holoprosencephaly 3	GLikely benign
Select item 2819370	NM_022458.4(LMBR1):c.423+309A>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2818222	NM_022458.4(LMBR1):c.423+159C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2817314	NM_000193.4(SHH):c.719C>G (p.Thr240Ser)	SHH (T240S)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 2806607	NM_022458.4(LMBR1):c.424-152T>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2806239	NM_022458.4(LMBR1):c.424-133G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2805040	NM_022458.4(LMBR1):c.424-102T>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2803380	NM_000193.4(SHH):c.908C>T (p.Ala303Val)	SHH (A303V)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 2798386	NM_022458.4(LMBR1):c.424-5537G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2797950	NM_022458.4(LMBR1):c.423+413A>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2797387	NM_022458.4(LMBR1):c.424-15499G>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2796774	NM_022458.4(LMBR1):c.423+450A>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2796537	NM_022458.4(LMBR1):c.424-5306T>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2795405	NM_022458.4(LMBR1):c.424-364A>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2794291	NM_022458.4(LMBR1):c.424-5308G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2792730	NM_022458.4(LMBR1):c.423+6945G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2792666	NM_022458.4(LMBR1):c.423+6684A>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2786372	NM_000193.4(SHH):c.952G>A (p.Val318Met)	SHH (V318M)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 2786326	NM_022458.4(LMBR1):c.423+247G>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2783552	NM_022458.4(LMBR1):c.424-136A>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2783460	NM_022458.4(LMBR1):c.424-15780A>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2782801	NM_022458.4(LMBR1):c.424-5462G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2781903	NM_022458.4(LMBR1):c.423+6778A>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2781880	NM_022458.4(LMBR1):c.423+185GA[6]	LMBR1, SHH	Microsatellite (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2781021	NM_022458.4(LMBR1):c.424-5382G>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance

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