THG1L[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 3059739	NM_017872.5(THG1L):c.-10C>A	LOC129995144, THG1L	Single nucleotide variant (5 prime UTR variant)	THG1L-related disorder	GBenign
Select item 2430530	NM_017872.5(THG1L):c.10G>A (p.Ala4Thr)	LOC129995144, THG1L (A4T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2411255	NM_017872.5(THG1L):c.46A>G (p.Ile16Val)	LOC129995144, THG1L (I16V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358404	NM_017872.5(THG1L):c.130G>A (p.Asp44Asn)	LOC129995144, THG1L (D44N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1301747	NM_017872.5(THG1L):c.136A>T (p.Thr46Ser)	LOC129995144, THG1L (T46S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 547932	NM_017872.5(THG1L):c.137C>A (p.Thr46Asn)	THG1L, LOC129995144 (T46N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 441070	NM_017872.5(THG1L):c.164T>C (p.Val55Ala)	LOC129995144, THG1L (V55A)	Single nucleotide variant (5 prime UTR variant +1 more)	Spinocerebellar ataxia, autosomal recessive 28 +1 more	GLikely pathogenic
Select item 3177053	NM_017872.5(THG1L):c.166C>T (p.Arg56Trp)	LOC129995144, THG1L (R56W)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537673	NM_017872.5(THG1L):c.169C>G (p.Leu57Val)	LOC129995144, THG1L (L57V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1321970	NM_017872.5(THG1L):c.182A>C (p.Asn61Thr)	THG1L, LOC129995144 (N61T)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2315400	NM_017872.5(THG1L):c.230G>A (p.Ser77Asn)	THG1L (S15N +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1320730	NM_017872.5(THG1L):c.260C>T (p.Ala87Val)	THG1L (A25V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2656002	NM_017872.5(THG1L):c.285G>A (p.Glu95=)	THG1L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1210012	NM_017872.5(THG1L):c.287A>T (p.Asp96Val)	THG1L (D34V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1695145	NM_017872.5(THG1L):c.297C>T (p.Ile99=)	THG1L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3177055	NM_017872.5(THG1L):c.302A>G (p.Tyr101Cys)	THG1L (M1V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 547933	NM_017872.5(THG1L):c.313G>A (p.Asp105Asn)	THG1L (D105N +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2275596	NM_017872.5(THG1L):c.389C>T (p.Ala130Val)	THG1L (A130V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3177056	NM_017872.5(THG1L):c.424C>T (p.Arg142Trp)	THG1L (R142W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597665	NM_017872.5(THG1L):c.494G>A (p.Ser165Asn)	THG1L (S40N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483902	NM_017872.5(THG1L):c.517C>T (p.Leu173Phe)	THG1L (L173F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3364256	NM_017872.5(THG1L):c.521G>C (p.Ser174Thr)	THG1L (S112T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340281	NM_017872.5(THG1L):c.526C>T (p.Arg176Ter)	THG1L (R114* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1700739	NM_017872.5(THG1L):c.527G>A (p.Arg176Gln)	THG1L (R114Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1321961	NM_017872.5(THG1L):c.529C>T (p.Gln177Ter)	THG1L (Q115* +3 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GPathogenic
Select item 3024981	NM_017872.5(THG1L):c.621A>G (p.Arg207=)	THG1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1342289	NM_017872.5(THG1L):c.628-6T>C	THG1L	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive 28	GBenign
Select item 1233565	NM_017872.5(THG1L):c.695T>C (p.Leu232Pro)	THG1L (L100P +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2541856	NM_017872.5(THG1L):c.725T>C (p.Ile242Thr)	THG1L (I117T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535145	NM_017872.5(THG1L):c.745G>T (p.Val249Leu)	THG1L (V249L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278897	NM_017872.5(THG1L):c.778A>G (p.Met260Val)	THG1L (M128V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285609	NM_017872.5(THG1L):c.787A>G (p.Lys263Glu)	THG1L (K131E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460490	NM_017872.5(THG1L):c.847G>A (p.Gly283Arg)	THG1L (G151R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 818233	NM_017872.5(THG1L):c.881T>C (p.Leu294Pro)	THG1L (L294P +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive 28	GUncertain significance
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	PTTG1, UBLCP1 +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1339784	GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1	ADAM19, ADRA1B +33 more	Copy number loss	not provided	Gnot provided
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 563114	GRCh37/hg19 5q33.3(chr5:156911673-157225044)x3	LSM11, C5orf52 +4 more	Copy number gain	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic

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Items: 51