ClinVar for Gene (Select 170825) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350423	NM_133267.3(GSX2):c.525C>T (p.Ala175=)	GSX2	Single nucleotide variant (synonymous variant)	GSX2-related disorder	GLikely benign
Select item 3103014	NM_133267.3(GSX2):c.801C>A (p.Asn267Lys)	GSX2 (N267K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103013	NM_133267.3(GSX2):c.46T>A (p.Ser16Thr)	GSX2 (S16T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103012	NM_133267.3(GSX2):c.358C>A (p.Pro120Thr)	GSX2 (P120T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048774	NM_133267.3(GSX2):c.459A>C (p.Ala153=)	GSX2	Single nucleotide variant (synonymous variant)	GSX2-related disorder	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SEC24D, CLDN22 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685968	GRCh37/hg19 4q12(chr4:54280346-55271175)x3	CHIC2, FIP1L1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2685108	GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 2654758	NM_133267.3(GSX2):c.135G>A (p.Val45=)	GSX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654757	NM_133267.3(GSX2):c.34A>G (p.Ile12Val)	GSX2 (I12V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2622331	NM_133267.3(GSX2):c.595G>A (p.Val199Ile)	GSX2 (V199I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609398	NM_133267.3(GSX2):c.883G>A (p.Ala295Thr)	GSX2 (A295T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596586	NM_133267.3(GSX2):c.635C>T (p.Thr212Met)	GSX2 (T212M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2561026	NM_133267.3(GSX2):c.214T>C (p.Ser72Pro)	GSX2 (S72P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544549	NM_133267.3(GSX2):c.512C>T (p.Pro171Leu)	GSX2 (P171L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521403	NM_133267.3(GSX2):c.118C>G (p.Pro40Ala)	GSX2 (P40A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398826	NM_133267.3(GSX2):c.495C>G (p.His165Gln)	GSX2 (H165Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331514	NM_133267.3(GSX2):c.389A>C (p.His130Pro)	GSX2 (H130P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301024	NM_133267.3(GSX2):c.283G>T (p.Val95Leu)	GSX2 (V95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288872	NM_133267.3(GSX2):c.272G>A (p.Gly91Glu)	GSX2 (G91E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250755	NM_133267.3(GSX2):c.896A>G (p.Lys299Arg)	GSX2 (K299R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229424	NM_133267.3(GSX2):c.344A>G (p.Asp115Gly)	GSX2 (D115G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224087	NM_133267.3(GSX2):c.343G>T (p.Asp115Tyr)	GSX2 (D115Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808462	GRCh37/hg19 4q11-12(chr4:52685980-59272025)x3	AASDH, ARL9 +36 more	Copy number gain	not provided	GUncertain significance
Select item 1808079	GRCh37/hg19 4q12(chr4:54623716-55204256)x3	CHIC2, GSX2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1703552	GRCh37/hg19 4q12(chr4:53688710-56491447)	CHIC2, CLOCK +12 more	Copy number loss	Piebaldism	GPathogenic
Select item 1340920	GRCh37/hg19 4q11-12(chr4:52685685-58104722)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1285310	NM_133267.3(GSX2):c.319G>A (p.Gly107Ser)	GSX2 (G107S)	Single nucleotide variant (missense variant)	Diencephalic-mesencephalic junction dysplasia syndrome 2 +1 more	GBenign
Select item 1255326	NM_133267.3(GSX2):c.575-40C>A	GSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252242	NM_133267.3(GSX2):c.574+129C>T	GSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241231	NM_133267.3(GSX2):c.575-119A>T	GSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228986	NC_000004.12:g.54099937G>A	GSX2	Single nucleotide variant	not provided	GBenign
Select item 1223318	NM_133267.3(GSX2):c.408T>C (p.His136=)	GSX2	Single nucleotide variant (synonymous variant)	Diencephalic-mesencephalic junction dysplasia syndrome 2 +1 more	GBenign
Select item 1182813	NM_133267.3(GSX2):c.156C>T (p.Ser52=)	GSX2	Single nucleotide variant (synonymous variant)	Diencephalic-mesencephalic junction dysplasia syndrome 2 +1 more	GBenign
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 694063	NM_133267.3(GSX2):c.752A>G (p.Gln251Arg)	GSX2 (Q251R)	Single nucleotide variant (missense variant)	Diencephalic-mesencephalic junction dysplasia syndrome 2	GPathogenic
Select item 694062	NM_133267.3(GSX2):c.26C>A (p.Ser9Ter)	GSX2 (S9*)	Single nucleotide variant (nonsense)	Diencephalic-mesencephalic junction dysplasia syndrome 2	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 57309	GRCh38/hg38 4q12(chr4:51870025-55102392)x1	CHIC2, DANCR +65 more	Copy number loss	See cases	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 49