ClinVar for Gene (Select 6469) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384113	NM_000193.4(SHH):c.1308del (p.Gln437fs)	SHH (Q437fs)	Deletion (frameshift variant +1 more)	Holoprosencephaly 3	GPathogenic
Select item 3377926	NM_000193.4(SHH):c.855dup (p.Glu286fs)	SHH (E286fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3377157	NM_000193.4(SHH):c.1093G>A (p.Ala365Thr)	SHH (A365T)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GLikely pathogenic
Select item 3375948	NM_000193.4(SHH):c.586G>A (p.Gly196Arg)	SHH (G196R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3374881	NM_000193.4(SHH):c.200C>G (p.Ser67Cys)	SHH (S67C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3370145	NM_000193.4(SHH):c.85G>C (p.Gly29Arg)	SHH (G29R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370006	NM_000193.4(SHH):c.1361C>A (p.Pro454Gln)	SHH (P454Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368457	NM_000193.4(SHH):c.931C>A (p.Pro311Thr)	SHH (P311T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366218	NM_000193.4(SHH):c.67G>C (p.Ala23Pro)	SHH (A23P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365827	NM_000193.4(SHH):c.1165G>A (p.Ala389Thr)	SHH (A389T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365111	NM_000193.4(SHH):c.122C>G (p.Pro41Arg)	SHH (P41R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361050	NM_000193.4(SHH):c.170G>A (p.Gly57Asp)	SHH (G57D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360076	NM_000193.4(SHH):c.502G>A (p.Ala168Thr)	SHH (A168T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360010	NM_000193.4(SHH):c.835G>A (p.Asp279Asn)	SHH (D279N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359761	NM_000193.4(SHH):c.1295T>C (p.Ile432Thr)	SHH (I432T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3358962	NM_000193.4(SHH):c.37del (p.Val13fs)	SHH (V13fs)	Deletion (frameshift variant)	Solitary median maxillary central incisor syndrome	GLikely pathogenic
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 3355679	NC_000007.14:g.156791417G>A	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	SHH-related disorder	GLikely benign
Select item 3355130	NM_000193.4(SHH):c.*2871T>G	SHH (L173*)	Single nucleotide variant (3 prime UTR variant +2 more)	SHH-related disorder	GUncertain significance
Select item 3355117	NC_000007.14:g.156791418G>A	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	SHH-related disorder	GLikely benign
Select item 3350965	NC_000007.14:g.156268805G>A	SBE2, SHH	Single nucleotide variant	SHH-related disorder	GUncertain significance
Select item 3347643	NM_000193.4(SHH):c.1109A>G (p.His370Arg)	SHH (H370R)	Single nucleotide variant (missense variant +1 more)	SHH-related disorder	GUncertain significance
Select item 3346566	NM_000193.4(SHH):c.1121A>C (p.His374Pro)	SHH (H374P)	Single nucleotide variant (missense variant +1 more)	SHH-related disorder	GUncertain significance
Select item 3345617	NM_000193.4(SHH):c.1040C>A (p.Pro347Gln)	SHH (P347Q)	Single nucleotide variant (missense variant +1 more)	SHH-related disorder	GLikely pathogenic
Select item 3344390	NM_000193.4(SHH):c.660dup (p.Gly221fs)	SHH (G221fs)	Duplication (frameshift variant +1 more)	SHH-related disorder	GLikely pathogenic
Select item 3344248	NC_000007.14:g.156791471A>G	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	SHH-related disorder	GLikely pathogenic
Select item 3344217	NM_000193.4(SHH):c.*2745C>T	SHH (S131L)	Single nucleotide variant (3 prime UTR variant +2 more)	SHH-related disorder	GUncertain significance
Select item 3342934	NM_000193.4(SHH):c.850_876del (p.Glu284_Gly292del)	SHH	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3341857	NM_000193.4(SHH):c.1224C>G (p.Gly408=)	SHH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3340528	NC_000007.14:g.156791257G>A	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	Polydactyly of a triphalangeal thumb	GPathogenic
Select item 3340406	NM_000193.4(SHH):c.839C>A (p.Ser280Ter)	SHH (S280*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3318278	NM_000193.4(SHH):c.838T>C (p.Ser280Pro)	SHH (S280P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3318277	NM_000193.4(SHH):c.1075G>A (p.Val359Met)	SHH (V359M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3318276	NM_000193.4(SHH):c.622G>C (p.Glu208Gln)	SHH (E208Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 3253511	NM_000193.4(SHH):c.1055G>T (p.Gly352Val)	SHH (G352V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3253271	NM_000193.4(SHH):c.707G>A (p.Ser236Asn)	SHH (S236N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252253	NM_000193.4(SHH):c.1127C>A (p.Ala376Asp)	SHH (A376D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3237470	NM_000193.4(SHH):c.736G>T (p.Asp246Tyr)	SHH (D246Y)	Single nucleotide variant (missense variant +1 more)	Schizencephaly	GUncertain significance
Select item 3161692	NM_000193.4(SHH):c.823G>A (p.Ala275Thr)	SHH (A275T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161691	NM_000193.4(SHH):c.733G>A (p.Asp245Asn)	SHH (D245N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161689	NM_000193.4(SHH):c.587G>A (p.Gly196Glu)	SHH (G196E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
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 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
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 3061578	NM_000193.4(SHH):c.1290G>A (p.Ala430=)	SHH	Single nucleotide variant (synonymous variant +1 more)	SHH-related disorder	GLikely benign
Select item 3061428	NM_000193.4(SHH):c.944T>A (p.Val315Glu)	SHH (V315E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3055048	NM_000193.4(SHH):c.930C>T (p.Arg310=)	SHH	Single nucleotide variant (synonymous variant +1 more)	SHH-related disorder	GLikely benign
Select item 3054726	NC_000007.14:g.156791588T>C	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	SHH-related disorder	GLikely benign
Select item 3053709	NM_000193.4(SHH):c.*5G>A	SHH	Single nucleotide variant (3 prime UTR variant +1 more)	SHH-related disorder	GLikely benign
Select item 3053417	NM_000193.4(SHH):c.*2722G>A	SHH	Single nucleotide variant (3 prime UTR variant +2 more)	SHH-related disorder	GLikely benign
Select item 3051037	NM_000193.4(SHH):c.1086G>C (p.Ser362=)	SHH	Single nucleotide variant (synonymous variant +1 more)	SHH-related disorder	GLikely benign
Select item 3048377	NM_000193.4(SHH):c.*2737C>T	SHH	Single nucleotide variant (3 prime UTR variant +2 more)	SHH-related disorder	GLikely benign
Select item 3048216	NC_000007.14:g.156792242T>C	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	SHH-related disorder	GUncertain significance
Select item 3046477	NM_000193.4(SHH):c.*2741T>C	SHH (F130L)	Single nucleotide variant (3 prime UTR variant +2 more)	SHH-related disorder	GLikely benign
Select item 3045218	NC_000007.14:g.156791184T>G	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	SHH-related disorder	GLikely benign
Select item 3036136	NM_000193.4(SHH):c.789C>G (p.Arg263=)	SHH	Single nucleotide variant (synonymous variant +1 more)	SHH-related disorder	GLikely benign
Select item 3035855	NC_000007.14:g.156791034T>C	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	SHH-related disorder	GLikely benign
Select item 3031737	NM_000193.4(SHH):c.1206C>T (p.Gly402=)	SHH	Single nucleotide variant (synonymous variant +1 more)	SHH-related disorder	GLikely benign
Select item 3031729	NM_000193.4(SHH):c.*2758C>T	SHH	Single nucleotide variant (3 prime UTR variant +2 more)	SHH-related disorder	GLikely benign
Select item 3031464	NM_000193.4(SHH):c.27G>C (p.Leu9=)	SHH	Single nucleotide variant (synonymous variant)	SHH-related disorder	GLikely benign
Select item 3031007	NC_000007.14:g.156791112T>C	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	SHH-related disorder	GUncertain significance
Select item 3029691	NC_000007.14:g.156791462T>C	SHH, ZRS +1 more	Single nucleotide variant (intron variant)	SHH-related disorder	GLikely benign
Select item 3029279	NC_000007.14:g.156792767C>A	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	SHH-related disorder	GLikely benign
Select item 3027107	NM_000193.4(SHH):c.286A>G (p.Arg96Gly)	SHH (R96G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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

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