TMEM139-AS1[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	LOC129999653, LOC129999654 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	C7orf33, CALD1 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	LOC129999666, LOC129999667 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	TMEM140, TMEM176A +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC129999503, LOC129999504 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LINC00996, LINC01003 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	WDR86, WDR86-AS1 +944 more	Copy number loss	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 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	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	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 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	LOC129999649, LOC129999650 +737 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 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	ABCB8, ABCF2 +707 more	Copy number loss	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
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 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 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 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 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 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 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 2371475	NM_015917.3(GSTK1):c.291G>T (p.Leu97Phe)	GSTK1, TMEM139-AS1 (L97F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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 726354	NM_015917.3(GSTK1):c.558C>T (p.Thr186=)	GSTK1, TMEM139-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776267	NM_015917.3(GSTK1):c.632-4C>G	GSTK1, TMEM139-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 2322373	NM_001282876.2(TMEM139):c.38C>T (p.Pro13Leu)	LOC126860210, TMEM139 +1 more (P13L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2508453	NM_001282876.2(TMEM139):c.98C>T (p.Thr33Met)	LOC126860210, TMEM139 +1 more (T33M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3178797	NM_001282876.2(TMEM139):c.147C>G (p.Phe49Leu)	LOC126860210, TMEM139 +1 more (F49L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2610908	NM_001282876.2(TMEM139):c.183G>C (p.Trp61Cys)	LOC126860210, TMEM139 +1 more (W61C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2482231	NM_001282876.2(TMEM139):c.194C>G (p.Ser65Cys)	LOC126860210, TMEM139 +1 more (S65C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2318193	NM_001282876.2(TMEM139):c.223C>G (p.Pro75Ala)	LOC126860210, TMEM139 +1 more (P75A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2658110	NM_001282876.2(TMEM139):c.245G>A (p.Arg82Gln)	TMEM139, TMEM139-AS1 (R82Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

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Items: 46