Related gene-specific medical variations for Gene (Select 2736) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062620	GRCh37/hg19 2q14.2(chr2:121570407-121739448)x3	GLI2	Copy number gain	not specified	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 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 2689134	NM_001374353.1(GLI2):c.1366C>T (p.Arg456Cys)	GLI2 (R331C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664060	NM_001374353.1(GLI2):c.4495A>G (p.Met1499Val)	GLI2 (M1374V +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	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 2582463	NM_001374353.1(GLI2):c.2509_2510del (p.Ser837fs)	GLI2 (S712fs +2 more)	Deletion (frameshift variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	GPathogenic
Select item 2581088	NM_001374353.1(GLI2):c.1317+1G>A	GLI2	Single nucleotide variant (splice donor variant)	Pituitary stalk interruption syndrome	GUncertain significance
Select item 2579153	NM_001374353.1(GLI2):c.1183-45del	GLI2 (V397fs)	Deletion (frameshift variant +1 more)	Holoprosencephaly 9	GLikely pathogenic
Select item 2441742	NM_001374353.1(GLI2):c.2454del (p.Ser819fs)	GLI2 (S694fs +2 more)	Deletion (frameshift variant)	Holoprosencephaly 9 +1 more	GPathogenic
Select item 2432146	NM_001374353.1(GLI2):c.4300A>T (p.Ile1434Phe)	GLI2 (I1309F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432145	NM_001374353.1(GLI2):c.3950A>G (p.Gln1317Arg)	GLI2 (Q1192R +2 more)	Single nucleotide variant (missense variant)	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 1701654	NM_001374353.1(GLI2):c.1906-4G>A	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 1526895	GRCh37/hg19 2q14.2(chr2:121733319-121923165)	GLI2	Copy number gain	not specified	GUncertain significance
Select item 1526894	GRCh37/hg19 2q14.2(chr2:121728275-121792474)	GLI2	Copy number gain	not specified	GUncertain significance
Select item 1526892	GRCh37/hg19 2q14.2(chr2:121728206-121799987)	GLI2	Copy number gain	not specified	GUncertain significance
Select item 1344680	NM_001374353.1(GLI2):c.1600G>A (p.Ala534Thr)	GLI2 (A409T +2 more)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome	GLikely pathogenic
Select item 1342641	NM_001374353.1(GLI2):c.3810A>C (p.Glu1270Asp)	GLI2 (E1145D +2 more)	Single nucleotide variant (missense variant)	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome +1 more	GUncertain significance
Select item 1341896	NM_001374353.1(GLI2):c.1183-54C>T	GLI2	Single nucleotide variant (intron variant)	Holoprosencephaly 9 +1 more	GUncertain significance
Select item 1319874	NM_001374353.1(GLI2):c.4339G>A (p.Gly1447Arg)	GLI2 (G1322R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319873	NM_001374353.1(GLI2):c.457+1G>A	GLI2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1184376	NM_001374353.1(GLI2):c.4466A>G (p.Glu1489Gly)	GLI2 (E1364G +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9	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 1012463	NM_001374353.1(GLI2):c.348C>T (p.Asn116=)	GLI2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 993942	NM_001374353.1(GLI2):c.1157C>T (p.Pro386Leu)	GLI2 (P261L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993758	NM_001374353.1(GLI2):c.2353del (p.Leu785fs)	GLI2 (L660fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 931811	NM_001374353.1(GLI2):c.4291T>C (p.Tyr1431His)	GLI2 (Y1306H +2 more)	Single nucleotide variant (missense variant)	Holoprosencephaly 9	GUncertain significance
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 870688	NM_001374353.1(GLI2):c.3616C>T (p.Gln1206Ter)	GLI2 (Q1081* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 813530	NM_001374353.1(GLI2):c.4576C>T (p.Arg1526Cys)	GLI2 (R1526C +2 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 808796	NM_001374353.1(GLI2):c.3601A>G (p.Arg1201Gly)	GLI2 (R1201G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 562519	GRCh37/hg19 2q14.2(chr2:121612201-121734527)x1	GLI2	Copy number loss	not provided	GPathogenic
Select item 441898	GRCh37/hg19 2q14.2(chr2:121728206-121792474)x3	GLI2	Copy number gain	See cases	GUncertain significance
Select item 259734	NM_001374353.1(GLI2):c.644-28G>C	GLI2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 259727	NM_001374353.1(GLI2):c.3500C>A (p.Pro1167Gln)	GLI2 (P1184Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 259715	NM_001374353.1(GLI2):c.1632+36G>A	GLI2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 259712	NM_001374353.1(GLI2):c.1317+40G>A	GLI2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 253854	GRCh37/hg19 2q14.2(chr2:121635607-121732989)x3	GLI2	Copy number gain	See cases	GUncertain significance
Select item 226137	GRCh37/hg19 2q14.2(chr2:121588391-121754337)	GLI2	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 139428	GLI2, 1256TER	GLI2	Single nucleotide variant	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	GPathogenic
Select item 13834	GLI2, 1-BP DEL, NT2274	GLI2	Deletion	Holoprosencephaly 9	GPathogenic

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Links from Gene

Items: 42