TMEM79[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 149955	GRCh38/hg38 1q22(chr1:155834419-156434205)x3	ARHGEF2, ARHGEF2-AS2 +90 more	Copy number gain	See cases	GUncertain significance
Select item 149564	GRCh38/hg38 1q22-23.1(chr1:156256495-156681863)x1	BCAN, BCAN-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 2308147	NM_032323.3(TMEM79):c.53C>T (p.Pro18Leu)	SMG5, TMEM79 (P18L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 714098	NM_032323.3(TMEM79):c.92G>A (p.Arg31Gln)	SMG5, TMEM79 (R31Q)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2345720	NM_032323.3(TMEM79):c.212G>T (p.Ser71Ile)	SMG5, TMEM79 (S71I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2251559	NM_032323.3(TMEM79):c.260C>T (p.Pro87Leu)	SMG5, TMEM79 (P87L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2383839	NM_032323.3(TMEM79):c.268G>C (p.Asp90His)	SMG5, TMEM79 (D90H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2205970	NM_032323.3(TMEM79):c.374C>T (p.Ala125Val)	SMG5, TMEM79 (A125V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2554362	NM_032323.3(TMEM79):c.399C>G (p.Asp133Glu)	SMG5, TMEM79 (D133E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2346573	NM_032323.3(TMEM79):c.401T>G (p.Leu134Arg)	SMG5, TMEM79 (L134R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 746669	NM_032323.3(TMEM79):c.442C>T (p.Arg148Cys)	SMG5, TMEM79 (R148C)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 728138	NM_032323.3(TMEM79):c.453A>G (p.Ala151=)	SMG5, TMEM79	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2235902	NM_032323.3(TMEM79):c.481C>T (p.Pro161Ser)	SMG5, TMEM79 (P161S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2589629	NM_032323.3(TMEM79):c.521G>T (p.Trp174Leu)	SMG5, TMEM79 (W174L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2400729	NM_032323.3(TMEM79):c.535G>A (p.Val179Met)	SMG5, TMEM79 (V179M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2613785	NM_032323.3(TMEM79):c.554C>A (p.Ser185Tyr)	SMG5, TMEM79 (S185Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2390511	NM_032323.3(TMEM79):c.568G>A (p.Gly190Arg)	SMG5, TMEM79 (G190R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2229005	NM_032323.3(TMEM79):c.583C>T (p.Arg195Cys)	SMG5, TMEM79 (R195C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2475475	NM_032323.3(TMEM79):c.614G>A (p.Gly205Glu)	SMG5, TMEM79 (G205E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 780265	NM_032323.3(TMEM79):c.618C>G (p.Ala206=)	SMG5, TMEM79	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2281959	NM_032323.3(TMEM79):c.627T>G (p.Ile209Met)	SMG5, TMEM79 (I209M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2512553	NM_032323.3(TMEM79):c.658G>A (p.Ala220Thr)	SMG5, TMEM79 (A220T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2569779	NM_032323.3(TMEM79):c.668C>T (p.Pro223Leu)	SMG5, TMEM79 (P223L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2258098	NM_032323.3(TMEM79):c.694A>C (p.Met232Leu)	TMEM79, SMG5 (M232L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2532759	NM_032323.3(TMEM79):c.707T>C (p.Leu236Pro)	SMG5, TMEM79 (L236P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2559851	NM_032323.3(TMEM79):c.713A>G (p.Tyr238Cys)	SMG5, TMEM79 (Y238C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 741944	NM_032323.3(TMEM79):c.771C>T (p.Tyr257=)	TMEM79, SMG5	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2509457	NM_032323.3(TMEM79):c.802C>T (p.Arg268Trp)	TMEM79, SMG5 (R268W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2517997	NM_032323.3(TMEM79):c.823C>T (p.Arg275Trp)	SMG5, TMEM79 (R275W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2549996	NM_032323.3(TMEM79):c.844C>G (p.Arg282Gly)	SMG5, TMEM79 (R282G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2538933	NM_032323.3(TMEM79):c.845G>A (p.Arg282Gln)	SMG5, TMEM79 (R282Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2558487	NM_032323.3(TMEM79):c.910T>C (p.Tyr304His)	SMG5, TMEM79 (Y304H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2277297	NM_032323.3(TMEM79):c.970C>T (p.Arg324Trp)	SMG5, TMEM79 (R324W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 728139	NM_032323.3(TMEM79):c.996C>T (p.Ala332=)	LOC111828496, SMG5 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2305070	NM_032323.3(TMEM79):c.1028G>C (p.Gly343Ala)	LOC111828496, SMG5 +1 more (G343A)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2531554	NM_032323.3(TMEM79):c.1045C>G (p.Leu349Val)	LOC111828496, SMG5 +1 more (L349V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2363511	NM_032323.3(TMEM79):c.1078A>G (p.Met360Val)	TMEM79, LOC111828496 +1 more (M360V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2484600	NM_032323.3(TMEM79):c.1136C>T (p.Pro379Leu)	LOC111828496, TMEM79 (P379L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491767	NM_032323.3(TMEM79):c.1177T>A (p.Trp393Arg)	LOC111828496, TMEM79 (W393R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1460461	NC_000001.10:g.(?_155581953)_(156851434_?)del	CRABP2, DAP3 +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	MUC1, PMVK +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CKS1B, CLK2 +228 more	Duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 688120	GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3	ARHGEF2, BCAN +33 more	Copy number gain	not provided	GUncertain significance
Select item 685546	GRCh37/hg19 1q22(chr1:156037369-156463980)x3	BGLAP, CCT3 +17 more	Copy number gain	not provided	GUncertain significance
Select item 617477	LMNA-NTRK1 fusion	BCAN, BGLAP +31 more	Fusion	Congenital fibrosarcoma	GPathogenic
Select item 565184	GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3	BCAN, BGLAP +35 more	Copy number gain	not provided	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 58