TMEM130[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	UFSP1, VGF +299 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +229 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 2591178	NM_152913.3(TMEM130):c.1241T>G (p.Leu414Arg)	LOC126860120, TMEM130 (L312R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329929	NM_152913.3(TMEM130):c.1147T>A (p.Cys383Ser)	LOC126860120, TMEM130 (C281S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410616	NM_152913.3(TMEM130):c.1021G>C (p.Val341Leu)	LOC126860120, TMEM130 (V239L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2566109	NM_152913.3(TMEM130):c.952G>A (p.Glu318Lys)	TMEM130 (E318K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279613	NM_152913.3(TMEM130):c.893C>T (p.Ala298Val)	TMEM130 (A298V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366227	NM_152913.3(TMEM130):c.880G>A (p.Val294Met)	TMEM130 (V192M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264694	NM_152913.3(TMEM130):c.656C>T (p.Pro219Leu)	TMEM130 (P219L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613613	NM_152913.3(TMEM130):c.627A>C (p.Lys209Asn)	TMEM130 (K209N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261890	NM_152913.3(TMEM130):c.592T>C (p.Tyr198His)	TMEM130 (Y96H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222602	NM_152913.3(TMEM130):c.463A>T (p.Thr155Ser)	TMEM130 (T155S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298677	NM_152913.3(TMEM130):c.437C>A (p.Pro146His)	TMEM130 (P44H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316654	NM_152913.3(TMEM130):c.379C>T (p.Leu127Phe)	TMEM130 (L127F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324287	NM_152913.3(TMEM130):c.367G>A (p.Gly123Ser)	TMEM130 (G123S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2315847	NM_152913.3(TMEM130):c.301G>A (p.Gly101Arg)	TMEM130 (G101R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454893	NM_152913.3(TMEM130):c.289G>A (p.Gly97Ser)	TMEM130 (G97S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553636	NM_152913.3(TMEM130):c.248G>A (p.Gly83Asp)	TMEM130 (G83D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312918	NM_152913.3(TMEM130):c.212G>A (p.Arg71His)	TMEM130 (R71H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409934	NM_152913.3(TMEM130):c.205C>T (p.Leu69Phe)	TMEM130 (L69F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590606	NM_152913.3(TMEM130):c.134C>A (p.Ala45Glu)	TMEM130 (A45E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594462	NM_152913.3(TMEM130):c.14T>C (p.Val5Ala)	TMEM130 (V5A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062993	GRCh37/hg19 7q22.1(chr7:98400618-98684060)x3	SMURF1, TMEM130 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
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 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 979636	GRCh37/hg19 7q22.1(chr7:98277871-98483457)x3	TRRAP, TMEM130	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 687152	GRCh37/hg19 7q22.1(chr7:98373794-98676268)x3	SMURF1, TMEM130 +1 more	Copy number gain	not provided	GUncertain significance
Select item 545583	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	ARPC1A, ARPC1B +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 37