2736[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 155658	GRCh38/hg38 2q14.2-14.3(chr2:118687829-121621814)x1	C1QL2, C2orf76 +92 more	Copy number loss	See cases	GPathogenic
Select item 154964	GRCh38/hg38 2q14.2(chr2:120621488-121102933)x3	GLI2, LOC110120692 +4 more	Copy number gain	See cases	GLikely pathogenic
Select item 1183319	NM_001374353.1(GLI2):c.-30-311T>C	GLI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226691	NM_001374353.1(GLI2):c.-30-214A>C	GLI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267464	NM_001374353.1(GLI2):c.-30-117A>G	GLI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202674	NM_001374353.1(GLI2):c.-30-97G>T	GLI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3053997	NM_001374353.1(GLI2):c.-8C>T	GLI2	Single nucleotide variant (5 prime UTR variant)	GLI2-related disorder	GLikely benign
Select item 259708	NM_001374353.1(GLI2):c.-7G>A	GLI2	Single nucleotide variant (5 prime UTR variant)	Holoprosencephaly 9 +1 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 2112984	NM_001374353.1(GLI2):c.9dup (p.Ser4fs)	GLI2 (S4fs)	Duplication (frameshift variant +1 more)	Holoprosencephaly 9 +1 more	GPathogenic
Select item 1354011	NM_001374353.1(GLI2):c.8C>T (p.Thr3Met)	GLI2 (T3M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 697438	NM_001374353.1(GLI2):c.9G>A (p.Thr3=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 750770	NM_001374353.1(GLI2):c.30C>T (p.Ser10=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 2636639	NM_001374353.1(GLI2):c.31G>C (p.Glu11Gln)	GLI2 (E11Q)	Single nucleotide variant (missense variant +1 more)	GLI2-related disorder	GUncertain significance
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 1313245	NM_001374353.1(GLI2):c.41A>G (p.Glu14Gly)	GLI2 (E14G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1371947	NM_001374353.1(GLI2):c.49del (p.Ser17fs)	GLI2 (S17fs)	Deletion (frameshift variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GPathogenic
Select item 3100184	NM_001374353.1(GLI2):c.47A>G (p.Lys16Arg)	GLI2 (K16R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1184351	NM_001374353.1(GLI2):c.56T>A (p.Ile19Asn)	GLI2 (I19N)	Single nucleotide variant (missense variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	GUncertain significance
Select item 982786	NM_001374353.1(GLI2):c.58C>G (p.Leu20Val)	GLI2 (L20V)	Single nucleotide variant (missense variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 1926748	NM_001374353.1(GLI2):c.66C>T (p.Ala22=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 9 +1 more	GBenign
Select item 1049892	NM_001374353.1(GLI2):c.67G>A (p.Ala23Thr)	GLI2 (A23T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2689135	NM_001374353.1(GLI2):c.71G>A (p.Gly24Asp)	GLI2 (G24D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2932251	NM_001374353.1(GLI2):c.75C>T (p.Phe25=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 432329	NM_001374353.1(GLI2):c.78del (p.Asp27fs)	GLI2 (D27fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 706011	NM_001374353.1(GLI2):c.78C>T (p.Pro26=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely benign
Select item 1804503	NM_001374353.1(GLI2):c.83_96del (p.Pro28fs)	GLI2 (P28fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1938117	NM_001374353.1(GLI2):c.83C>A (p.Pro28Gln)	GLI2 (P28Q)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 419104	NM_001374353.1(GLI2):c.88A>C (p.Lys30Gln)	GLI2 (K30Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3100188	NM_001374353.1(GLI2):c.94G>T (p.Ala32Ser)	GLI2 (A32S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2584663	NM_001374353.1(GLI2):c.94G>A (p.Ala32Thr)	GLI2 (A32T)	Single nucleotide variant (missense variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	GUncertain significance
Select item 2690613	NM_001374353.1(GLI2):c.104dup (p.Leu35fs)	GLI2 (L35fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2950296	NM_001374353.1(GLI2):c.109G>A (p.Val37Met)	GLI2 (V37M)	Single nucleotide variant (missense variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 1379957	NM_001374353.1(GLI2):c.118G>A (p.Ala40Thr)	GLI2 (A40T)	Single nucleotide variant (missense variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 1621508	NM_001374353.1(GLI2):c.120G>A (p.Ala40=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 9 +2 more	GLikely benign
Select item 755125	NM_001374353.1(GLI2):c.123A>G (p.Ala41=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 705917	NM_001374353.1(GLI2):c.129A>C (p.Ala43=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 9 +1 more	GBenign
Select item 893358	NM_001374353.1(GLI2):c.131C>T (p.Ala44Val)	GLI2 (A44V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 193310	NM_001374353.1(GLI2):c.132G>A (p.Ala44=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2202384	NM_001374353.1(GLI2):c.140C>T (p.Ala47Val)	GLI2 (A47V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1711506	NM_001374353.1(GLI2):c.142C>T (p.Gln48Ter)	GLI2 (Q48*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 930784	NM_001374353.1(GLI2):c.146G>A (p.Gly49Glu)	GLI2 (G49E)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 9	GUncertain significance
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 1576344	NM_001374353.1(GLI2):c.148+12T>A	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 259713	NM_001374353.1(GLI2):c.148+14C>T	GLI2	Single nucleotide variant (intron variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +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 2946633	NM_001374353.1(GLI2):c.148+20C>T	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 3033286	NM_001374353.1(GLI2):c.148+42_148+43insGGTG	GLI2	Insertion (intron variant)	GLI2-related disorder	GLikely benign
Select item 3057331	NM_001374353.1(GLI2):c.148+43T>C	GLI2	Single nucleotide variant (intron variant)	GLI2-related disorder	GLikely benign
Select item 3033653	NM_001374353.1(GLI2):c.148+45_148+46del	GLI2	Deletion (intron variant)	GLI2-related disorder	GLikely benign
Select item 1190231	NM_001374353.1(GLI2):c.148+143G>A	GLI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181011	NM_001374353.1(GLI2):c.148+194_148+196dup	GLI2	Duplication (intron variant)	not provided	GBenign
Select item 149112	GRCh38/hg38 2q14.2(chr2:120815240-120979362)x3	GLI2, LOC126806336	Copy number gain	See cases	GLikely pathogenic
Select item 2947133	NM_001374353.1(GLI2):c.149-877_238del	GLI2	Deletion (splice acceptor variant +1 more)	Holoprosencephaly 9 +1 more	GLikely pathogenic
Select item 801743	NM_001374353.1(GLI2):c.149-274C>G	GLI2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 817375	NM_001374353.1(GLI2):c.162_163del (p.Leu55fs)	GLI2 (L55fs)	Microsatellite (frameshift variant +1 more)	Holoprosencephaly 9 +2 more	GLikely pathogenic
Select item 2218137	NM_001374353.1(GLI2):c.160C>G (p.Leu54Val)	GLI2 (L54V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3051950	NM_001374353.1(GLI2):c.168A>G (p.Pro56=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	GLI2-related disorder	GLikely benign
Select item 1418872	NM_001374353.1(GLI2):c.176A>G (p.His59Arg)	GLI2 (H59R)	Single nucleotide variant (missense variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 2637439	NM_001374353.1(GLI2):c.178G>C (p.Ala60Pro)	GLI2 (A60P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3031886	NM_001374353.1(GLI2):c.180G>A (p.Ala60=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	GLI2-related disorder	GLikely benign
Select item 1677414	NM_001374353.1(GLI2):c.189G>A (p.Pro63=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 573009	NM_001374353.1(GLI2):c.192dup (p.Asp65Ter)	GLI2 (D65*)	Duplication (nonsense +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GPathogenic
Select item 2578131	NM_001374353.1(GLI2):c.193G>A (p.Asp65Asn)	GLI2 (D65N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2952573	NM_001374353.1(GLI2):c.195C>G (p.Asp65Glu)	GLI2 (D65E)	Single nucleotide variant (missense variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 598007	NM_001374353.1(GLI2):c.196A>G (p.Met66Val)	GLI2 (M66V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1701734	NM_001374353.1(GLI2):c.198G>A (p.Met66Ile)	GLI2 (M66I)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 1694964	NM_001374353.1(GLI2):c.199C>T (p.Arg67Ter)	GLI2 (R67*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3337149	NM_001374353.1(GLI2):c.217T>C (p.Tyr73His)	GLI2 (Y73H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 799111	NM_001374353.1(GLI2):c.219C>T (p.Tyr73=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3030636	NM_001374353.1(GLI2):c.220C>G (p.His74Asp)	GLI2 (H74D)	Single nucleotide variant (missense variant +1 more)	GLI2-related disorder	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 +1 more	GConflicting classifications of pathogenicity
Select item 195240	NM_001374353.1(GLI2):c.221A>G (p.His74Arg)	GLI2 (H74R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 3029259	NM_001374353.1(GLI2):c.225C>T (p.Tyr75=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	GLI2-related disorder	GLikely benign
Select item 3100171	NM_001374353.1(GLI2):c.226G>A (p.Glu76Lys)	GLI2 (E76K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 703189	NM_001374353.1(GLI2):c.243C>T (p.His81=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 9 +1 more	GLikely benign
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 2399119	NM_001374353.1(GLI2):c.248T>C (p.Val83Ala)	GLI2 (V83A)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 9 +2 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 373963	NM_001374353.1(GLI2):c.254G>C (p.Gly85Ala)	GLI2 (G85A)	Single nucleotide variant (missense variant +1 more)	Growth delay +10 more	GLikely benign
Select item 3253339	NM_001374353.1(GLI2):c.254+1G>A	GLI2	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 3236584	NM_001374353.1(GLI2):c.254+1G>T	GLI2	Single nucleotide variant (splice donor variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GLikely pathogenic
Select item 259726	NM_001374353.1(GLI2):c.254+32C>T	GLI2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1258509	NM_001374353.1(GLI2):c.254+66C>T	GLI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276786	NM_001374353.1(GLI2):c.254+175A>G	GLI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275344	NM_001374353.1(GLI2):c.254+211G>A	GLI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264610	NM_001374353.1(GLI2):c.255-235C>T	GLI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267394	NM_001374353.1(GLI2):c.255-230G>A	GLI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238485	NM_001374353.1(GLI2):c.255-223C>T	GLI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212142	NM_001374353.1(GLI2):c.255-202del	GLI2	Deletion (intron variant)	not provided	GLikely benign
Select item 1255142	NM_001374353.1(GLI2):c.255-156A>G	GLI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1608321	NM_001374353.1(GLI2):c.255-17G>T	GLI2	Single nucleotide variant (intron variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +2 more	GBenign
Select item 3340963	NM_001374353.1(GLI2):c.260dup (p.Ala88fs)	GLI2 (A88fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1488479	NM_001374353.1(GLI2):c.257C>T (p.Pro86Leu)	GLI2 (P86L)	Single nucleotide variant (missense variant +1 more)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 2942127	NM_001374353.1(GLI2):c.258C>T (p.Pro86=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 9 +1 more	GLikely benign
Select item 2631900	NM_001374353.1(GLI2):c.268A>C (p.Ser90Arg)	GLI2 (S90R)	Single nucleotide variant (missense variant +1 more)	GLI2-related disorder	GUncertain significance

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