ClinVar for Gene (Select 55164) - ClinVar

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Links from Gene

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3441575	NM_018130.3(SHQ1):c.1439T>A (p.Leu480His)	SHQ1 (L480H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3441574	NM_018130.3(SHQ1):c.1247G>A (p.Gly416Glu)	SHQ1 (G416E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3441573	NM_018130.3(SHQ1):c.1502C>T (p.Ala501Val)	SHQ1 (A501V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3441572	NM_018130.3(SHQ1):c.1624C>G (p.Leu542Val)	SHQ1 (L542V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3441571	NM_018130.3(SHQ1):c.1044A>G (p.Ile348Met)	SHQ1 (I348M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3441570	NM_018130.3(SHQ1):c.1147A>G (p.Ile383Val)	SHQ1 (I383V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3441569	NM_018130.3(SHQ1):c.860G>A (p.Arg287His)	SHQ1 (R287H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3441567	NM_018130.3(SHQ1):c.385A>T (p.Ile129Phe)	SHQ1 (I129F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3441566	NM_018130.3(SHQ1):c.485A>C (p.Gln162Pro)	SHQ1 (Q162P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3364449	NM_018130.3(SHQ1):c.835C>T (p.Leu279Phe)	SHQ1 (L279F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363566	NM_018130.3(SHQ1):c.850T>C (p.Tyr284His)	SHQ1 (Y284H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3318367	NM_018130.3(SHQ1):c.761G>A (p.Arg254Gln)	SHQ1 (R254Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318366	NM_018130.3(SHQ1):c.859C>T (p.Arg287Cys)	SHQ1 (R287C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318364	NM_018130.3(SHQ1):c.1184C>T (p.Ser395Phe)	SHQ1 (S395F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318363	NM_018130.3(SHQ1):c.202G>A (p.Asp68Asn)	SHQ1 (D68N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318362	NM_018130.3(SHQ1):c.713A>G (p.Asn238Ser)	SHQ1 (N238S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318361	NM_018130.3(SHQ1):c.1520G>A (p.Gly507Asp)	SHQ1 (G507D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161920	NM_018130.3(SHQ1):c.90C>A (p.Asp30Glu)	SHQ1 (D30E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161918	NM_018130.3(SHQ1):c.644A>C (p.Tyr215Ser)	SHQ1 (Y215S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161917	NM_018130.3(SHQ1):c.557G>A (p.Arg186His)	SHQ1 (R186H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161916	NM_018130.3(SHQ1):c.37G>A (p.Asp13Asn)	SHQ1 (D13N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161915	NM_018130.3(SHQ1):c.241C>G (p.Pro81Ala)	SHQ1 (P81A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161914	NM_018130.3(SHQ1):c.1580C>T (p.Ala527Val)	SHQ1 (A527V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161913	NM_018130.3(SHQ1):c.1483T>G (p.Phe495Val)	SHQ1 (F495V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161911	NM_018130.3(SHQ1):c.144A>G (p.Arg48=)	SHQ1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3161910	NM_018130.3(SHQ1):c.1370C>T (p.Ser457Leu)	SHQ1 (S457L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064893	NM_018130.3(SHQ1):c.833T>C (p.Ile278Thr)	SHQ1 (I278T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dystonia and seizures	GUncertain significance
Select item 3040458	NM_018130.3(SHQ1):c.1708_1709dup (p.Asp570fs)	SHQ1 (D570fs)	Microsatellite (frameshift variant)	SHQ1-related disorder	GUncertain significance
Select item 3031702	NM_018130.3(SHQ1):c.882+2_882+12del	SHQ1	Deletion (splice donor variant)	SHQ1-related disorder	GUncertain significance
Select item 2687777	NM_018130.3(SHQ1):c.997C>G (p.Leu333Val)	SHQ1 (L333V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dystonia and seizures	GLikely pathogenic
Select item 2662622	NM_018130.3(SHQ1):c.937-3C>G	SHQ1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2619004	NM_018130.3(SHQ1):c.1234A>G (p.Lys412Glu)	SHQ1 (K412E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610025	NM_018130.3(SHQ1):c.608T>G (p.Phe203Cys)	SHQ1 (F203C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605182	NM_018130.3(SHQ1):c.1613T>G (p.Leu538Arg)	SHQ1 (L538R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592160	NM_018130.3(SHQ1):c.587C>A (p.Pro196His)	SHQ1 (P196H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574306	NM_018130.3(SHQ1):c.1675A>C (p.Thr559Pro)	SHQ1 (T559P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572766	NM_018130.3(SHQ1):c.851A>G (p.Tyr284Cys)	SHQ1 (Y284C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2554111	NM_018130.3(SHQ1):c.1462G>T (p.Val488Phe)	SHQ1 (V488F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549539	NM_018130.3(SHQ1):c.1396T>C (p.Ser466Pro)	SHQ1 (S466P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520586	NM_018130.3(SHQ1):c.179G>A (p.Ser60Asn)	SHQ1 (S60N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506761	NM_018130.3(SHQ1):c.478C>T (p.Arg160Trp)	SHQ1 (R160W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506760	NM_018130.3(SHQ1):c.34C>T (p.Pro12Ser)	SHQ1 (P12S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2480554	NM_018130.3(SHQ1):c.502G>A (p.Val168Ile)	SHQ1 (V168I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467553	NM_018130.3(SHQ1):c.644A>G (p.Tyr215Cys)	SHQ1 (Y215C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461320	NM_018130.3(SHQ1):c.625A>G (p.Ile209Val)	SHQ1 (I209V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376314	NM_018130.3(SHQ1):c.1528C>T (p.Arg510Cys)	SHQ1 (R510C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352377	NM_018130.3(SHQ1):c.1688G>A (p.Arg563His)	SHQ1 (R563H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349552	NM_018130.3(SHQ1):c.37G>C (p.Asp13His)	SHQ1 (D13H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332866	NM_018130.3(SHQ1):c.71C>G (p.Ala24Gly)	SHQ1 (A24G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319985	NM_018130.3(SHQ1):c.1115A>G (p.Asn372Ser)	SHQ1 (N372S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295597	NM_018130.3(SHQ1):c.22C>T (p.Leu8Phe)	SHQ1 (L8F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269057	NM_018130.3(SHQ1):c.1478G>T (p.Gly493Val)	SHQ1 (G493V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261783	NM_018130.3(SHQ1):c.704A>G (p.Glu235Gly)	SHQ1 (E235G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259766	NM_018130.3(SHQ1):c.1226C>G (p.Ser409Cys)	SHQ1 (S409C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251152	NM_018130.3(SHQ1):c.175G>A (p.Gly59Arg)	SHQ1 (G59R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229814	NM_018130.3(SHQ1):c.55A>G (p.Ile19Val)	SHQ1 (I19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223480	NM_018130.3(SHQ1):c.71C>A (p.Ala24Asp)	SHQ1 (A24D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213362	NM_018130.3(SHQ1):c.80C>T (p.Ser27Phe)	SHQ1 (S27F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2136259	NM_018130.3(SHQ1):c.114dup (p.Lys39fs)	SHQ1 (K39fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2136220	NM_018130.3(SHQ1):c.443A>G (p.Tyr148Cys)	SHQ1 (Y148C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804536	NM_018130.3(SHQ1):c.29A>G (p.Gln10Arg)	SHQ1 (Q10R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804512	NM_018130.3(SHQ1):c.1687C>T (p.Arg563Cys)	SHQ1 (R563C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1693527	NM_018130.3(SHQ1):c.874G>A (p.Glu292Lys)	SHQ1 (E292K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dystonia and seizures	GPathogenic
Select item 1693526	NM_018130.3(SHQ1):c.523G>T (p.Asp175Tyr)	SHQ1 (D175Y)	Single nucleotide variant (missense variant)	Dystonia 35, childhood-onset +1 more	GConflicting classifications of pathogenicity
Select item 1693525	NM_018130.3(SHQ1):c.828_831del (p.Asp277fs)	SHQ1 (D277fs)	Microsatellite (frameshift variant)	SHQ1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 980499	GRCh37/hg19 3p13-12.3(chr3:70938608-74660846)x3	CNTN3, EBLN2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 791528	NM_018130.3(SHQ1):c.505A>G (p.Ile169Val)	SHQ1 (I169V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789989	NM_018130.3(SHQ1):c.401G>A (p.Cys134Tyr)	SHQ1 (C134Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787019	NM_018130.3(SHQ1):c.1621G>A (p.Glu541Lys)	SHQ1 (E541K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783397	NM_018130.3(SHQ1):c.262C>T (p.Leu88=)	SHQ1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775886	NM_018130.3(SHQ1):c.25A>G (p.Ser9Gly)	SHQ1 (S9G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 715596	NM_018130.3(SHQ1):c.1051T>C (p.Leu351=)	SHQ1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710656	NM_018130.3(SHQ1):c.33T>G (p.Asp11Glu)	SHQ1 (D11E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 562784	GRCh37/hg19 3p13(chr3:72866811-72955847)x1	GXYLT2, SHQ1	Copy number loss	not provided	GLikely benign
Select item 562781	GRCh37/hg19 3p14.1-12.3(chr3:66133719-75076440)x1	ARL6IP5, CNTN3 +22 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441945	GRCh37/hg19 3p13-12.3(chr3:70433832-77012164)x1	RYBP, SHQ1 +13 more	Copy number loss	See cases	GPathogenic
Select item 394175	GRCh37/hg19 3p13-12.3(chr3:70127345-74508912)x3	CNTN3, EBLN2 +10 more	Copy number gain	See cases	GUncertain significance
Select item 154582	GRCh38/hg38 3p13-12.3(chr3:71317346-74324671)x1	LOC115995512, LOC121009679 +94 more	Copy number loss	See cases	GPathogenic
Select item 151504	GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3	ARL6IP5, CNTN3 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 144339	GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)x1	ARL6IP5, EBLN2 +142 more	Copy number loss	See cases	GPathogenic
Select item 57773	GRCh38/hg38 3p13-12.3(chr3:70296167-74865078)x1	LOC129937044, LOC129937045 +110 more	Copy number loss	See cases	GPathogenic
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 86