ClinVar for MedGen (Select 327125) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374719	NM_000193.4(SHH):c.241A>T (p.Asn81Tyr)	SHH (N81Y)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with coloboma 5 +2 more	GUncertain significance
Select item 3358925	NM_000193.4(SHH):c.433G>C (p.Ala145Pro)	SHH (A145P +1 more)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
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	GBenign
Select item 2892612	NM_000193.4(SHH):c.1263C>T (p.Ala421=)	SHH	Single nucleotide variant (synonymous 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)	Holoprosencephaly 3	GLikely benign
Select item 2880605	NM_000193.4(SHH):c.905G>A (p.Arg302Gln)	SHH (R302Q)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 2880093	NC_000007.14:g.156789796C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2879963	NC_000007.14:g.156789649C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2879429	NC_000007.14:g.156796141T>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2879058	NC_000007.14:g.156795993C>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2878718	NC_000007.14:g.156764191G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2878473	NC_000007.14:g.156763865T>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2878179	NC_000007.14:g.156779594T>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2877959	NC_000007.14:g.156769119C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2877580	NC_000007.14:g.156779292_156779295del	LMBR1, SHH	Deletion (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2877504	NC_000007.14:g.156789444C>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2877432	NC_000007.14:g.156796255T>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2876370	NC_000007.14:g.156769341G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2876297	NC_000007.14:g.156795890A>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2875793	NC_000007.14:g.156763944T>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2875218	NC_000007.14:g.156764013A>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2874568	NC_000007.14:g.156764267C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2874156	NC_000007.14:g.156763955T>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2873949	NC_000007.14:g.156795970G>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2873764	NC_000007.14:g.156789644A>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2872618	NC_000007.14:g.156789696G>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2872246	NC_000007.14:g.156764178G>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2872179	NC_000007.14:g.156769094C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2872127	NC_000007.14:g.156796061C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2872090	NC_000007.14:g.156779521T>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2871369	NC_000007.14:g.156764050A>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2871052	NC_000007.14:g.156779534del	LMBR1, SHH	Deletion (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2870990	NC_000007.14:g.156789388T>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2870959	NC_000007.14:g.156769027_156769034del	LMBR1, SHH	Deletion (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2870921	NC_000007.14:g.156779248A>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2870671	NC_000007.14:g.156769022A>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2870151	NC_000007.14:g.156789600G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2870047	NC_000007.14:g.156764204G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2869838	NC_000007.14:g.156769050G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2869831	NC_000007.14:g.156789395_156789396del	LMBR1, SHH	Deletion (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2869557	NC_000007.14:g.156796074C>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2869175	NC_000007.14:g.156779204del	LMBR1, SHH	Deletion (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2869099	NC_000007.14:g.156796024C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2868929	NC_000007.14:g.156779204T>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2868753	NC_000007.14:g.156789543G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2868735	NC_000007.14:g.156789555A>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2868734	NC_000007.14:g.156779470G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GLikely benign
Select item 2868429	NC_000007.14:g.156769436G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2868395	NC_000007.14:g.156769404G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2868355	NC_000007.14:g.156769187G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2868303	NC_000007.14:g.156769446C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GBenign
Select item 2868217	NC_000007.14:g.156769301C>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2868165	NC_000007.14:g.156789596T>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2867394	NC_000007.14:g.156779374T>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2867382	NC_000007.14:g.156764218T>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2866127	NC_000007.14:g.156769416C>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GBenign
Select item 2864980	NC_000007.14:g.156764268G>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2864655	NC_000007.14:g.156779210T>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2861022	NC_000007.14:g.156789445G>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GLikely benign
Select item 2857951	NC_000007.14:g.156779376A>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2855586	NC_000007.14:g.156769464A>G	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	NC_000007.14:g.156779229T>C	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	NC_000007.14:g.156796109A>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2841609	NC_000007.14:g.156769418A>G	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	NC_000007.14:g.156796080T>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2818222	NC_000007.14:g.156796230G>A	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	NC_000007.14:g.156763947A>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2806239	NC_000007.14:g.156763928C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2805040	NC_000007.14:g.156763897A>G	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	NC_000007.14:g.156769332C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2797950	NC_000007.14:g.156795976T>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2797387	NC_000007.14:g.156779294C>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2796774	NC_000007.14:g.156795939T>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2796537	NC_000007.14:g.156769101A>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2795405	NC_000007.14:g.156764159T>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2794291	NC_000007.14:g.156769103C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2792730	NC_000007.14:g.156789444C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2792666	NC_000007.14:g.156789705T>C	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	NC_000007.14:g.156796142C>A	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2783552	NC_000007.14:g.156763931T>G	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2783460	NC_000007.14:g.156779575T>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2782801	NC_000007.14:g.156769257C>T	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance
Select item 2781903	NC_000007.14:g.156789611T>C	LMBR1, SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GUncertain significance

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