TMEM190[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
Select item 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 153813	GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3	NAT14, NLRP11 +124 more	Copy number gain	See cases	GUncertain significance
Select item 3326899	NM_139172.3(TMEM190):c.41T>A (p.Leu14Gln)	TMEM190 (L14Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179062	NM_139172.3(TMEM190):c.122A>T (p.Glu41Val)	TMEM190 (E41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326903	NM_139172.3(TMEM190):c.131G>C (p.Gly44Ala)	TMEM190 (G44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408884	NM_139172.3(TMEM190):c.145A>G (p.Ile49Val)	TMEM190 (I49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354318	NM_139172.3(TMEM190):c.152G>T (p.Ser51Ile)	TMEM190 (S51I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508082	NM_139172.3(TMEM190):c.194G>A (p.Gly65Glu)	TMEM190 (G65E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607978	NM_139172.3(TMEM190):c.212G>A (p.Arg71His)	TMEM190 (R71H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326905	NM_139172.3(TMEM190):c.260C>T (p.Thr87Met)	TMEM190 (T87M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179063	NM_139172.3(TMEM190):c.316C>T (p.Arg106Cys)	TMEM190 (R106C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307539	NM_139172.3(TMEM190):c.317G>A (p.Arg106His)	TMEM190 (R106H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363169	NM_139172.3(TMEM190):c.325G>C (p.Val109Leu)	TMEM190 (V109L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2245245	NM_139172.3(TMEM190):c.325G>A (p.Val109Met)	TMEM190 (V109M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2540734	NM_139172.3(TMEM190):c.332A>G (p.His111Arg)	TMEM190 (H111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179064	NM_139172.3(TMEM190):c.356C>T (p.Pro119Leu)	TMEM190 (P119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179065	NM_139172.3(TMEM190):c.371A>G (p.Lys124Arg)	TMEM190 (K124R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2511876	NM_139172.3(TMEM190):c.376G>A (p.Val126Ile)	TMEM190 (V126I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179066	NM_139172.3(TMEM190):c.404C>T (p.Thr135Ile)	TMEM190 (T135I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326901	NM_139172.3(TMEM190):c.413C>T (p.Thr138Met)	TMEM190 (T138M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257976	NM_139172.3(TMEM190):c.422C>T (p.Thr141Met)	TMEM190 (T141M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179067	NM_139172.3(TMEM190):c.430G>A (p.Val144Met)	TMEM190 (V144M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179068	NM_139172.3(TMEM190):c.478G>A (p.Glu160Lys)	TMEM190 (E160K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179069	NM_139172.3(TMEM190):c.491C>G (p.Thr164Arg)	TMEM190 (T164R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179070	NM_139172.3(TMEM190):c.500G>A (p.Gly167Asp)	TMEM190 (G167D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326900	NM_139172.3(TMEM190):c.517G>A (p.Glu173Lys)	TMEM190 (E173K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326904	NM_139172.3(TMEM190):c.527A>T (p.Glu176Val)	TMEM190 (E176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808436	GRCh37/hg19 19q13.42(chr19:55642778-55932200)x3	BRSK1, COX6B2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1341981	GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1	CCDC106, COX6B2 +45 more	Copy number loss	not provided	GUncertain significance
Select item 1341017	GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1	BRSK1, CCDC106 +54 more	Copy number loss	not provided	GLikely pathogenic
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564600	GRCh37/hg19 19q13.42-13.43(chr19:55779884-56896574)x1	KMT5C, NLRP8 +39 more	Copy number loss	not provided	GUncertain significance
Select item 443658	GRCh37/hg19 19q13.42-13.43(chr19:55844155-57408007)x3	CCDC106, COX6B2 +47 more	Copy number gain	See cases	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443202	GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3	BRSK1, CCDC106 +61 more	Copy number gain	See cases	GUncertain significance
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic

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Items: 50