C1835819[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 140

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 259708	NM_001374353.1(GLI2):c.-7G>A	GLI2	Single nucleotide variant (5 prime UTR variant)	GLI2-related condition +2 more	GBenign/Likely benign
Select item 330960	NM_001374353.1(GLI2):c.-1G>C	GLI2	Single nucleotide variant (5 prime UTR variant)	Holoprosencephaly 9	GBenign
Select item 330961	NM_001374353.1(GLI2):c.31G>A (p.Glu11Lys)	GLI2 (E11K)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 9	GUncertain significance
Select item 419104	NM_001374353.1(GLI2):c.88A>C (p.Lys30Gln)	GLI2 (K30Q)	Single nucleotide variant (missense variant +1 more)	GLI2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 893358	NM_001374353.1(GLI2):c.131C>T (p.Ala44Val)	GLI2 (A44V)	Single nucleotide variant (missense variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +2 more	GBenign/Likely benign
Select item 330962	NM_001374353.1(GLI2):c.148+5T>C	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9 +3 more	GBenign/Likely benign
Select item 259713	NM_001374353.1(GLI2):c.148+14C>T	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9 +2 more	GBenign/Likely benign
Select item 330963	NM_001374353.1(GLI2):c.148+15G>A	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9	GLikely benign
Select item 893359	NM_001374353.1(GLI2):c.149-14C>G	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9	GUncertain significance
Select item 893360	NM_001374353.1(GLI2):c.152C>G (p.Pro51Arg)	GLI2 (P51R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 330964	NM_001374353.1(GLI2):c.220C>T (p.His74Tyr)	GLI2 (H74Y)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 9 +2 more	GConflicting classifications of pathogenicity
Select item 330965	NM_001374353.1(GLI2):c.244G>A (p.Gly82Ser)	GLI2 (G82S)	Single nucleotide variant (missense variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 330966	NM_001374353.1(GLI2):c.252C>T (p.His84=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 894190	NM_001374353.1(GLI2):c.270C>T (p.Ser90=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 9	GLikely benign
Select item 702846	NM_001374353.1(GLI2):c.291C>T (p.Asp97=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	GLI2-related condition +2 more	GBenign
Select item 598536	NM_001374353.1(GLI2):c.315G>A (p.Pro105=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 894191	NM_001374353.1(GLI2):c.413C>T (p.Thr138Met)	GLI2 (T13M +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9	GConflicting classifications of pathogenicity
Select item 330967	NM_001374353.1(GLI2):c.595G>A (p.Gly199Ser)	GLI2 (G199S +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +2 more	GBenign/Likely benign
Select item 282300	NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr)	GLI2 (A203T +1 more)	Single nucleotide variant (missense variant)	GLI2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 452760	NM_001374353.1(GLI2):c.661C>T (p.Pro221Ser)	GLI2 (P221S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 894600	NM_001374353.1(GLI2):c.671C>T (p.Thr224Met)	GLI2 (T224M +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 665586	NM_001374353.1(GLI2):c.677G>A (p.Arg226His)	GLI2 (R226H +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +2 more	GUncertain significance
Select item 894601	NM_001374353.1(GLI2):c.686G>A (p.Arg229His)	GLI2 (R104H +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9	GUncertain significance
Select item 259735	NM_001374353.1(GLI2):c.720C>T (p.Asp240=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +3 more	GBenign/Likely benign
Select item 259736	NM_001374353.1(GLI2):c.801G>A (p.Ser267=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +3 more	GBenign
Select item 330968	NM_001374353.1(GLI2):c.845+10G>A	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9 +2 more	GLikely benign
Select item 259738	NM_001374353.1(GLI2):c.963C>G (p.Pro321=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +3 more	GBenign/Likely benign
Select item 498082	NM_001374353.1(GLI2):c.1080G>A (p.Ser360=)	GLI2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 892574	NM_001374353.1(GLI2):c.1106T>C (p.Val369Ala)	GLI2 (V244A +1 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +2 more	GLikely benign
Select item 330969	NM_001374353.1(GLI2):c.1173G>A (p.Ala391=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related condition +1 more	GLikely benign
Select item 892575	NM_001374353.1(GLI2):c.1195G>A (p.Asp399Asn)	GLI2 (D416N +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9	GUncertain significance
Select item 198817	NM_001374353.1(GLI2):c.1243G>A (p.Val415Met)	GLI2 (V432M +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +2 more	GBenign
Select item 707067	NM_001374353.1(GLI2):c.1260C>T (p.Thr420=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related condition +3 more	GBenign/Likely benign
Select item 892576	NM_001374353.1(GLI2):c.1309C>G (p.Leu437Val)	GLI2 (L454V +2 more)	Single nucleotide variant (missense variant)	GLI2-related condition +1 more	GUncertain significance
Select item 330970	NM_001374353.1(GLI2):c.1317+6C>G	GLI2	Single nucleotide variant (intron variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 330971	NM_001374353.1(GLI2):c.1633-7T>A	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9	GUncertain significance
Select item 259719	NM_001374353.1(GLI2):c.1710G>A (p.Thr570=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +3 more	GBenign/Likely benign
Select item 330972	NM_001374353.1(GLI2):c.1751A>G (p.Asn584Ser)	GLI2 (N601S +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 330973	NM_001374353.1(GLI2):c.1755C>T (p.Asp585=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 221952	NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met)	GLI2 (T620M +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +5 more	GConflicting classifications of pathogenicity
Select item 259720	NM_001374353.1(GLI2):c.1818C>A (p.Gly606=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related condition +3 more	GBenign
Select item 37083	NM_001374353.1(GLI2):c.1834G>A (p.Glu612Lys)	GLI2 (E629K +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 330974	NM_001374353.1(GLI2):c.1890G>A (p.Lys630=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 259721	NM_001374353.1(GLI2):c.1893C>T (p.Thr631=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +3 more	GBenign
Select item 783095	NM_001374353.1(GLI2):c.1905+7G>A	GLI2	Single nucleotide variant (intron variant)	GLI2-related condition +2 more	GLikely benign
Select item 330975	NM_001374353.1(GLI2):c.1917C>T (p.Ser639=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9	GUncertain significance
Select item 894223	NM_001374353.1(GLI2):c.1924G>A (p.Gly642Arg)	GLI2 (G642R +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9	GUncertain significance
Select item 194065	NM_001374353.1(GLI2):c.1935G>A (p.Ser645=)	GLI2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 894224	NM_001374353.1(GLI2):c.1947C>T (p.Ser649=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +2 more	GBenign/Likely benign
Select item 287567	NM_001374353.1(GLI2):c.2034G>A (p.Thr678=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +3 more	GLikely benign
Select item 259722	NM_001374353.1(GLI2):c.2037A>G (p.Ala679=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +3 more	GBenign/Likely benign
Select item 330976	NM_001374353.1(GLI2):c.2062G>A (p.Asp688Asn)	GLI2 (D705N +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 894623	NM_001374353.1(GLI2):c.2131C>T (p.Arg711Trp)	GLI2 (R586W +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9	GUncertain significance
Select item 285395	NM_001374353.1(GLI2):c.2136C>A (p.Phe712Leu)	GLI2 (F729L +2 more)	Single nucleotide variant (missense variant)	GLI2-related condition +4 more	GBenign/Likely benign
Select item 330977	NM_001374353.1(GLI2):c.2199T>G (p.Thr733=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 894624	NM_001374353.1(GLI2):c.2261T>G (p.Phe754Cys)	GLI2 (F754C +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9	GUncertain significance
Select item 330978	NM_001374353.1(GLI2):c.2267G>A (p.Gly756Asp)	GLI2 (G773D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 330979	NM_001374353.1(GLI2):c.2395G>T (p.Ala799Ser)	GLI2 (A816S +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9	GUncertain significance
Select item 772295	NM_001374353.1(GLI2):c.2486C>T (p.Pro829Leu)	GLI2 (P829L +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GConflicting classifications of pathogenicity
Select item 330980	NM_001374353.1(GLI2):c.2598G>A (p.Pro866=)	GLI2	Single nucleotide variant (synonymous variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 285394	NM_001374353.1(GLI2):c.2657C>G (p.Thr886Ser)	GLI2 (T903S +2 more)	Single nucleotide variant (missense variant)	GLI2-related condition +4 more	GBenign/Likely benign
Select item 892597	NM_001374353.1(GLI2):c.2666C>T (p.Pro889Leu)	GLI2 (P889L +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 892598	NM_001374353.1(GLI2):c.2683A>G (p.Ser895Gly)	GLI2 (S770G +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9	GUncertain significance
Select item 813658	NM_001374353.1(GLI2):c.2689C>T (p.Arg897Trp)	GLI2 (R772W +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9	GUncertain significance
Select item 330981	NM_001374353.1(GLI2):c.2690G>A (p.Arg897Gln)	GLI2 (R914Q +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +3 more	GUncertain significance
Select item 330982	NM_001374353.1(GLI2):c.2865T>A (p.Pro955=)	GLI2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 893414	NM_001374353.1(GLI2):c.2873G>T (p.Arg958Leu)	GLI2 (R833L +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9	GUncertain significance
Select item 194228	NM_001374353.1(GLI2):c.2889C>T (p.Ser963=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +3 more	GBenign/Likely benign
Select item 330983	NM_001374353.1(GLI2):c.2955C>G (p.Ala985=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9	GUncertain significance
Select item 194227	NM_001374353.1(GLI2):c.2967C>T (p.Gly989=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related condition +4 more	GBenign/Likely benign
Select item 194220	NM_001374353.1(GLI2):c.2997C>T (p.Asp999=)	GLI2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 893415	NM_001374353.1(GLI2):c.3123C>T (p.Asp1041=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +1 more	GBenign/Likely benign
Select item 330984	NM_001374353.1(GLI2):c.3186C>T (p.Asp1062=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9	GUncertain significance
Select item 330985	NM_001374353.1(GLI2):c.3228C>T (p.Phe1076=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9	GUncertain significance
Select item 95270	NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu)	GLI2 (V1117L +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 894254	NM_001374353.1(GLI2):c.3371A>T (p.Asn1124Ile)	GLI2 (N1124I +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 330986	NM_001374353.1(GLI2):c.3409G>A (p.Val1137Ile)	GLI2 (V1154I +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +2 more	GBenign
Select item 95271	NM_001374353.1(GLI2):c.3415G>T (p.Ala1139Ser)	GLI2 (A1156S +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 330987	NM_001374353.1(GLI2):c.3416C>T (p.Ala1139Val)	GLI2 (A1156V +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 194224	NM_001374353.1(GLI2):c.3418C>T (p.Leu1140=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +2 more	GConflicting classifications of pathogenicity
Select item 194223	NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp)	GLI2 (G1197D +2 more)	Single nucleotide variant (missense variant)	GLI2-related condition +4 more	GBenign/Likely benign
Select item 784880	NM_001374353.1(GLI2):c.3572G>A (p.Arg1191His)	GLI2 (R1066H +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 767113	NM_001374353.1(GLI2):c.3575G>T (p.Ser1192Ile)	GLI2 (S1192I +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 330988	NM_001374353.1(GLI2):c.3596T>A (p.Ile1199Asn)	GLI2 (I1216N +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9	GUncertain significance
Select item 330989	NM_001374353.1(GLI2):c.3647A>G (p.Gln1216Arg)	GLI2 (Q1233R +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 259728	NM_001374353.1(GLI2):c.3831G>A (p.Thr1277=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +3 more	GBenign
Select item 95272	NM_001374353.1(GLI2):c.3865G>A (p.Asp1289Asn)	GLI2 (D1306N +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 330990	NM_001374353.1(GLI2):c.3886C>A (p.Pro1296Thr)	GLI2 (P1313T +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 95273	NM_001374353.1(GLI2):c.3888A>G (p.Pro1296=)	GLI2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 95274	NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser)	GLI2 (P1315S +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 282213	NM_001374353.1(GLI2):c.3979C>T (p.Leu1327=)	GLI2	Single nucleotide variant (synonymous variant)	GLI2-related condition +4 more	GBenign/Likely benign
Select item 194231	NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val)	GLI2 (M1352V +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +3 more	GBenign/Likely benign
Select item 330991	NM_001374353.1(GLI2):c.4014A>G (p.Gln1338=)	GLI2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 706119	NM_001374353.1(GLI2):c.4030G>T (p.Val1344Leu)	GLI2 (V1361L +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 892641	NM_001374353.1(GLI2):c.4064G>A (p.Arg1355Gln)	GLI2 (R1355Q +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 893443	NM_001374353.1(GLI2):c.4094G>A (p.Arg1365His)	GLI2 (R1382H +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +2 more	GConflicting classifications of pathogenicity
Select item 475119	NM_001374353.1(GLI2):c.4147G>T (p.Gly1383Cys)	GLI2 (G1400C +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +2 more	GConflicting classifications of pathogenicity
Select item 330992	NM_001374353.1(GLI2):c.4156A>G (p.Met1386Val)	GLI2 (M1403V +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9 +2 more	GBenign/Likely benign
Select item 330993	NM_001374353.1(GLI2):c.4170G>A (p.Pro1390=)	GLI2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 9 +2 more	GBenign/Likely benign
Select item 330994	NM_001374353.1(GLI2):c.4208C>G (p.Ala1403Gly)	GLI2 (A1420G +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GBenign/Likely benign

<< First< Prev

Page of 2