ClinVar for Gene (Select 373156) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283016	NM_015917.3(GSTK1):c.620C>T (p.Ala207Val)	GSTK1, TMEM139-AS1 (A263V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283015	NM_015917.3(GSTK1):c.607A>C (p.Met203Leu)	GSTK1, TMEM139-AS1 (M191L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3102975	NM_015917.3(GSTK1):c.437G>A (p.Gly146Asp)	GSTK1, TMEM139-AS1 (G134D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102974	NM_015917.3(GSTK1):c.350C>T (p.Ala117Val)	GSTK1, TMEM139-AS1 (A117V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3102973	NM_015917.3(GSTK1):c.313G>A (p.Ala105Thr)	GSTK1, TMEM139-AS1 (A105T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102972	NM_015917.3(GSTK1):c.203A>G (p.Asn68Ser)	GSTK1, TMEM139-AS1 (N68S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102971	NM_015917.3(GSTK1):c.13C>T (p.Pro5Ser)	GSTK1, LOC113687200 +1 more (P5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2684506	GRCh37/hg19 7q34-35(chr7:142833114-143218955)x3	CASP2, CLCN1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2599508	NM_015917.3(GSTK1):c.193T>C (p.Tyr65His)	GSTK1, TMEM139-AS1 (Y65H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	OR2A25, OR6B1 +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2549525	NM_015917.3(GSTK1):c.664G>A (p.Val222Met)	GSTK1, TMEM139-AS1 (V179M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511336	NM_015917.3(GSTK1):c.349G>C (p.Ala117Pro)	GSTK1, TMEM139-AS1 (A74P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494387	NM_015917.3(GSTK1):c.385-36C>G	GSTK1, TMEM139-AS1 (P173A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483076	NM_015917.3(GSTK1):c.17G>C (p.Arg6Pro)	GSTK1, LOC113687200 +1 more (R6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	ACTR3C, ADCK2 +141 more	Deletion	not provided	GPathogenic
Select item 2371475	NM_015917.3(GSTK1):c.291G>T (p.Leu97Phe)	GSTK1, TMEM139-AS1 (L97F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2309543	NM_015917.3(GSTK1):c.20C>T (p.Thr7Ile)	GSTK1, LOC113687200 +1 more (T7I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238993	NM_015917.3(GSTK1):c.181C>T (p.Arg61Cys)	GSTK1, TMEM139-AS1 (R61C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224927	NM_015917.3(GSTK1):c.60G>T (p.Trp20Cys)	GSTK1, LOC113687200 +1 more (W20C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527406	GRCh37/hg19 7q34-35(chr7:142691458-143193361)	CASP2, CLCN1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	BPGM, SLC35B4 +105 more	Copy number loss	Abnormal facial shape +7 more	GPathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 776267	NM_015917.3(GSTK1):c.632-4C>G	GSTK1, TMEM139-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 726354	NM_015917.3(GSTK1):c.558C>T (p.Thr186=)	GSTK1, TMEM139-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708871	NM_015917.3(GSTK1):c.382A>G (p.Arg128Gly)	GSTK1, TMEM139-AS1 (R128G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687979	GRCh37/hg19 7q34-35(chr7:141751875-147105208)x3	ARHGEF35, ARHGEF5 +44 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442595	GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1	ABCB8, ABCF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 144163	GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3	AGK, AGK-DT +192 more	Copy number gain	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 57046	GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1	ARHGEF35, ARHGEF35-AS1 +110 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 67