TMEM131[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 109

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
Select item 155611	GRCh38/hg38 2q11.2(chr2:97422165-98203456)x3	ACTR1B, ANKRD36B +32 more	Copy number gain	See cases	GLikely benign
Select item 58877	GRCh38/hg38 2q11.2(chr2:97634165-97841153)x3	ACTR1B, C2orf92 +13 more	Copy number gain	See cases	GUncertain significance
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 2476067	NM_015348.2(TMEM131):c.5646G>T (p.Glu1882Asp)	TMEM131 (E1882D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283226	NM_015348.2(TMEM131):c.5645A>G (p.Glu1882Gly)	TMEM131 (E1882G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358710	NM_015348.2(TMEM131):c.5630C>T (p.Ser1877Leu)	TMEM131 (S1877L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178587	NM_015348.2(TMEM131):c.5348C>G (p.Ser1783Cys)	TMEM131 (S1783C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178586	NM_015348.2(TMEM131):c.5224G>A (p.Gly1742Arg)	TMEM131 (G1742R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651173	NM_015348.2(TMEM131):c.5223C>T (p.Leu1741=)	TMEM131	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3178585	NM_015348.2(TMEM131):c.5204G>T (p.Gly1735Val)	TMEM131 (G1735V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222867	NM_015348.2(TMEM131):c.5176G>A (p.Ala1726Thr)	TMEM131 (A1726T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543040	NM_015348.2(TMEM131):c.5114G>C (p.Gly1705Ala)	TMEM131 (G1705A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562976	NM_015348.2(TMEM131):c.5087T>G (p.Val1696Gly)	TMEM131 (V1696G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233131	NM_015348.2(TMEM131):c.5081C>T (p.Ala1694Val)	TMEM131 (A1694V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302968	NM_015348.2(TMEM131):c.5017A>C (p.Asn1673His)	TMEM131 (N1673H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236600	NM_015348.2(TMEM131):c.5014G>A (p.Gly1672Arg)	TMEM131 (G1672R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550975	NM_015348.2(TMEM131):c.4981G>T (p.Ala1661Ser)	TMEM131 (A1661S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178583	NM_015348.2(TMEM131):c.4970C>G (p.Pro1657Arg)	TMEM131 (P1657R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623503	NM_015348.2(TMEM131):c.4946C>T (p.Ser1649Leu)	TMEM131 (S1649L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522586	NM_015348.2(TMEM131):c.4938G>T (p.Lys1646Asn)	TMEM131 (K1646N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232644	NM_015348.2(TMEM131):c.4913A>G (p.Asn1638Ser)	TMEM131 (N1638S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3178582	NM_015348.2(TMEM131):c.4853G>A (p.Gly1618Asp)	TMEM131 (G1618D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473062	NM_015348.2(TMEM131):c.4850G>A (p.Arg1617Gln)	TMEM131 (R1617Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369085	NM_015348.2(TMEM131):c.4814C>T (p.Pro1605Leu)	TMEM131 (P1605L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622596	NM_015348.2(TMEM131):c.4811C>G (p.Ser1604Cys)	TMEM131 (S1604C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308146	NM_015348.2(TMEM131):c.4756A>G (p.Thr1586Ala)	TMEM131 (T1586A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306225	NM_015348.2(TMEM131):c.4699G>A (p.Val1567Ile)	TMEM131 (V1567I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316935	NM_015348.2(TMEM131):c.4634A>G (p.Gln1545Arg)	TMEM131 (Q1545R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178581	NM_015348.2(TMEM131):c.4625C>T (p.Pro1542Leu)	TMEM131 (P1542L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313943	NM_015348.2(TMEM131):c.4612G>A (p.Ala1538Thr)	TMEM131 (A1538T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248382	NM_015348.2(TMEM131):c.4574G>A (p.Gly1525Asp)	TMEM131 (G1525D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596151	NM_015348.2(TMEM131):c.4562A>G (p.Gln1521Arg)	TMEM131 (Q1521R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270118	NM_015348.2(TMEM131):c.4500T>A (p.Asn1500Lys)	TMEM131 (N1500K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289285	NM_015348.2(TMEM131):c.4069G>C (p.Asp1357His)	TMEM131 (D1357H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471160	NM_015348.2(TMEM131):c.4051A>G (p.Ile1351Val)	TMEM131 (I1351V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178580	NM_015348.2(TMEM131):c.3971C>T (p.Ala1324Val)	TMEM131 (A1324V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312826	NM_015348.2(TMEM131):c.3943G>A (p.Glu1315Lys)	TMEM131 (E1315K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178579	NM_015348.2(TMEM131):c.3922C>G (p.Pro1308Ala)	TMEM131 (P1308A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545652	NM_015348.2(TMEM131):c.3911C>T (p.Pro1304Leu)	TMEM131 (P1304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236444	NM_015348.2(TMEM131):c.3890C>G (p.Pro1297Arg)	TMEM131 (P1297R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178577	NM_015348.2(TMEM131):c.3823A>T (p.Thr1275Ser)	TMEM131 (T1275S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609968	NM_015348.2(TMEM131):c.3671A>G (p.His1224Arg)	TMEM131 (H1224R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298362	NM_015348.2(TMEM131):c.3582G>T (p.Arg1194Ser)	TMEM131 (R1194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217455	NM_015348.2(TMEM131):c.3490G>A (p.Asp1164Asn)	TMEM131 (D1164N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178576	NM_015348.2(TMEM131):c.3370A>G (p.Ile1124Val)	TMEM131 (I1124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651174	NM_015348.2(TMEM131):c.3231T>C (p.Val1077=)	TMEM131	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2366139	NM_015348.2(TMEM131):c.3076C>A (p.Gln1026Lys)	TMEM131 (Q1026K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178574	NM_015348.2(TMEM131):c.3034A>G (p.Asn1012Asp)	TMEM131 (N1012D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178573	NM_015348.2(TMEM131):c.2966C>T (p.Ser989Phe)	TMEM131 (S989F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178571	NM_015348.2(TMEM131):c.2716A>C (p.Ser906Arg)	TMEM131 (S906R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475332	NM_015348.2(TMEM131):c.2585A>G (p.Tyr862Cys)	TMEM131 (Y862C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410596	NM_015348.2(TMEM131):c.2570C>T (p.Ala857Val)	TMEM131 (A857V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178570	NM_015348.2(TMEM131):c.2522C>A (p.Thr841Asn)	TMEM131 (T841N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218925	NM_015348.2(TMEM131):c.2510A>G (p.Lys837Arg)	TMEM131 (K837R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519082	NM_015348.2(TMEM131):c.2501G>A (p.Arg834Gln)	TMEM131 (R834Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178569	NM_015348.2(TMEM131):c.2500C>T (p.Arg834Trp)	TMEM131 (R834W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319280	NM_015348.2(TMEM131):c.2488C>G (p.Leu830Val)	TMEM131 (L830V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178568	NM_015348.2(TMEM131):c.2474C>T (p.Ser825Phe)	TMEM131 (S825F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388633	NM_015348.2(TMEM131):c.2444A>G (p.Asn815Ser)	TMEM131 (N815S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283713	NM_015348.2(TMEM131):c.2437C>A (p.Gln813Lys)	TMEM131 (Q813K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401380	NM_015348.2(TMEM131):c.2147G>A (p.Arg716Gln)	TMEM131 (R716Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280648	NM_015348.2(TMEM131):c.2101C>G (p.Gln701Glu)	TMEM131 (Q701E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542737	NM_015348.2(TMEM131):c.2060A>G (p.Lys687Arg)	TMEM131 (K687R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375653	NM_015348.2(TMEM131):c.2035G>A (p.Val679Ile)	TMEM131 (V679I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277180	NM_015348.2(TMEM131):c.1991C>G (p.Ala664Gly)	TMEM131 (A664G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178566	NM_015348.2(TMEM131):c.1946T>A (p.Ile649Asn)	TMEM131 (I649N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240855	NM_015348.2(TMEM131):c.1918A>G (p.Lys640Glu)	TMEM131 (K640E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178565	NM_015348.2(TMEM131):c.1883A>G (p.Tyr628Cys)	TMEM131 (Y628C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651175	NM_015348.2(TMEM131):c.1872A>G (p.Leu624=)	TMEM131	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3178564	NM_015348.2(TMEM131):c.1821C>A (p.Ser607Arg)	TMEM131 (S607R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178563	NM_015348.2(TMEM131):c.1799A>G (p.Asn600Ser)	TMEM131 (N600S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178562	NM_015348.2(TMEM131):c.1793G>T (p.Arg598Ile)	TMEM131 (R598I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592515	NM_015348.2(TMEM131):c.1762G>A (p.Gly588Ser)	TMEM131 (G588S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232643	NM_015348.2(TMEM131):c.1654A>G (p.Ile552Val)	TMEM131 (I552V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257975	NM_015348.2(TMEM131):c.1651T>C (p.Phe551Leu)	TMEM131 (F551L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178561	NM_015348.2(TMEM131):c.1534A>G (p.Met512Val)	TMEM131 (M512V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454767	NM_015348.2(TMEM131):c.1307A>T (p.Asp436Val)	TMEM131 (D436V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178556	NM_015348.2(TMEM131):c.1208A>G (p.Gln403Arg)	TMEM131 (Q403R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207639	NM_015348.2(TMEM131):c.1109C>T (p.Thr370Met)	TMEM131 (T370M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406038	NM_015348.2(TMEM131):c.1105A>G (p.Ile369Val)	TMEM131 (I369V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549013	NM_015348.2(TMEM131):c.1082G>A (p.Arg361Gln)	TMEM131 (R361Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178588	NM_015348.2(TMEM131):c.581A>G (p.His194Arg)	TMEM131 (H194R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262420	NM_015348.2(TMEM131):c.305G>A (p.Arg102Gln)	TMEM131 (R102Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178575	NM_015348.2(TMEM131):c.304C>T (p.Arg102Trp)	TMEM131 (R102W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517500	NM_015348.2(TMEM131):c.277T>C (p.Tyr93His)	TMEM131 (Y93H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178567	NM_015348.2(TMEM131):c.217G>T (p.Val73Leu)	TMEM131 (V73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769569	NM_015348.2(TMEM131):c.193G>A (p.Val65Ile)	TMEM131 (V65I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3178560	NM_015348.2(TMEM131):c.152C>G (p.Thr51Ser)	TMEM131 (T51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178557	NM_015348.2(TMEM131):c.134C>T (p.Ala45Val)	TMEM131 (A45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531385	NM_015348.2(TMEM131):c.83C>T (p.Ala28Val)	TMEM131 (A28V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347537	NM_015348.2(TMEM131):c.38C>A (p.Thr13Asn)	TMEM131 (T13N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178559	NM_015348.2(TMEM131):c.13G>C (p.Ala5Pro)	TMEM131 (A5P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685860	GRCh37/hg19 2q11.2(chr2:98165095-98974536)x3	ACTR1B, ANKRD36B +5 more	Copy number gain	not provided	GUncertain significance
Select item 2685859	GRCh37/hg19 2q11.1-11.2(chr2:96732520-99142320)x3	ACTR1B, ADRA2B +27 more	Copy number gain	not provided	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic

<< First< Prev

Page of 2