ClinVar for Gene (Select 51059) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277173	NM_015912.4(FAM135B):c.2795A>T (p.His932Leu)	FAM135B (H932L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277172	NM_015912.4(FAM135B):c.2800G>A (p.Val934Met)	FAM135B (V934M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277171	NM_015912.4(FAM135B):c.2449G>A (p.Gly817Ser)	FAM135B (G817S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277170	NM_015912.4(FAM135B):c.3896A>G (p.Lys1299Arg)	FAM135B (K1299R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277168	NM_015912.4(FAM135B):c.151C>A (p.Gln51Lys)	FAM135B (Q51K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277167	NM_015912.4(FAM135B):c.2756C>T (p.Ser919Phe)	FAM135B (S919F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277166	NM_015912.4(FAM135B):c.2897C>G (p.Thr966Arg)	FAM135B (T966R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277165	NM_015912.4(FAM135B):c.1486T>C (p.Ser496Pro)	FAM135B (S496P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277164	NM_015912.4(FAM135B):c.2899G>A (p.Ala967Thr)	FAM135B (A967T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277163	NM_015912.4(FAM135B):c.430C>G (p.Pro144Ala)	FAM135B (P144A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277162	NM_015912.4(FAM135B):c.3043A>C (p.Thr1015Pro)	FAM135B (T1015P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277161	NM_015912.4(FAM135B):c.2672C>T (p.Pro891Leu)	FAM135B (P891L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277160	NM_015912.4(FAM135B):c.3476A>G (p.Lys1159Arg)	FAM135B (K1159R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091833	NM_015912.4(FAM135B):c.659C>T (p.Thr220Ile)	FAM135B (T220I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091832	NM_015912.4(FAM135B):c.595G>A (p.Gly199Arg)	FAM135B (G199R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091831	NM_015912.4(FAM135B):c.553C>T (p.Pro185Ser)	FAM135B (P185S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091830	NM_015912.4(FAM135B):c.502G>A (p.Val168Ile)	FAM135B (V168I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3091829	NM_015912.4(FAM135B):c.469G>A (p.Asp157Asn)	FAM135B (D157N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091828	NM_015912.4(FAM135B):c.3868A>C (p.Lys1290Gln)	FAM135B (K1290Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091827	NM_015912.4(FAM135B):c.330A>C (p.Gln110His)	FAM135B (Q110H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091826	NM_015912.4(FAM135B):c.287G>T (p.Gly96Val)	FAM135B (G96V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091825	NM_015912.4(FAM135B):c.283T>G (p.Leu95Val)	FAM135B (L95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091824	NM_015912.4(FAM135B):c.2819C>T (p.Thr940Met)	FAM135B (T940M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091822	NM_015912.4(FAM135B):c.2615G>A (p.Gly872Asp)	FAM135B (G872D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091821	NM_015912.4(FAM135B):c.2443C>A (p.Leu815Ile)	FAM135B (L815I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091820	NM_015912.4(FAM135B):c.1609T>G (p.Ser537Ala)	FAM135B (S537A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091819	NM_015912.4(FAM135B):c.1561G>A (p.Gly521Ser)	FAM135B (G521S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091818	NM_015912.4(FAM135B):c.1474A>T (p.Met492Leu)	FAM135B (M492L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091817	NM_015912.4(FAM135B):c.1112C>T (p.Thr371Met)	FAM135B (T371M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	GSDMC, LY6D +173 more	Copy number gain	not provided	GPathogenic
Select item 2658849	NM_015912.4(FAM135B):c.750C>T (p.His250=)	FAM135B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658848	NM_015912.4(FAM135B):c.3096C>T (p.Asn1032=)	FAM135B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658847	NM_015912.4(FAM135B):c.3447T>C (p.Asp1149=)	FAM135B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618145	NM_015912.4(FAM135B):c.2163T>A (p.His721Gln)	FAM135B (H721Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617265	NM_015912.4(FAM135B):c.3088G>A (p.Val1030Ile)	FAM135B (V1030I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614272	NM_015912.4(FAM135B):c.1771G>A (p.Gly591Arg)	FAM135B (G591R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611935	NM_015912.4(FAM135B):c.2351A>G (p.Glu784Gly)	FAM135B (E784G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609522	NM_015912.4(FAM135B):c.2813G>A (p.Ser938Asn)	FAM135B (S938N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609076	NM_015912.4(FAM135B):c.47A>G (p.Lys16Arg)	FAM135B (K16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578018	GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913)	SLA, TRAPPC9 +29 more	Copy number gain	Distal trisomy 8q	GPathogenic
Select item 2569984	NM_015912.4(FAM135B):c.2546A>G (p.Lys849Arg)	FAM135B (K849R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547741	NM_015912.4(FAM135B):c.2810T>G (p.Leu937Trp)	FAM135B (L937W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536687	NM_015912.4(FAM135B):c.433C>T (p.Arg145Trp)	FAM135B (R145W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535873	NM_015912.4(FAM135B):c.1666G>A (p.Val556Ile)	FAM135B (V556I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519646	NM_015912.4(FAM135B):c.374G>C (p.Arg125Thr)	FAM135B (R125T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517335	NM_015912.4(FAM135B):c.2884A>T (p.Ile962Phe)	FAM135B (I962F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515286	NM_015912.4(FAM135B):c.496G>C (p.Val166Leu)	FAM135B (V166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515069	NM_015912.4(FAM135B):c.2156G>A (p.Arg719Gln)	FAM135B (R719Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512985	NM_015912.4(FAM135B):c.1358A>G (p.Asn453Ser)	FAM135B (N453S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505227	NM_015912.4(FAM135B):c.526C>T (p.Gln176Ter)	FAM135B (Q176*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2489122	NM_015912.4(FAM135B):c.2692A>G (p.Arg898Gly)	FAM135B (R898G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473636	NM_015912.4(FAM135B):c.1661T>C (p.Ile554Thr)	FAM135B (I554T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473635	NM_015912.4(FAM135B):c.1007C>A (p.Thr336Asn)	FAM135B (T336N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471711	NM_015912.4(FAM135B):c.1838A>T (p.His613Leu)	FAM135B (H613L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470409	NM_015912.4(FAM135B):c.2872G>A (p.Gly958Ser)	FAM135B (G958S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466248	NM_015912.4(FAM135B):c.230G>A (p.Arg77Gln)	FAM135B (R77Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464638	NM_015912.4(FAM135B):c.2488G>A (p.Val830Met)	FAM135B (V830M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463693	NM_015912.4(FAM135B):c.290G>A (p.Gly97Asp)	FAM135B (G97D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462926	NM_015912.4(FAM135B):c.1582A>G (p.Thr528Ala)	FAM135B (T528A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460107	NM_015912.4(FAM135B):c.1262A>G (p.His421Arg)	FAM135B (H421R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458559	NM_015912.4(FAM135B):c.199G>A (p.Val67Met)	FAM135B (V67M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411620	NM_015912.4(FAM135B):c.1933A>G (p.Ser645Gly)	FAM135B (S645G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406241	NM_015912.4(FAM135B):c.3616A>C (p.Asn1206His)	FAM135B (N1206H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397039	NM_015912.4(FAM135B):c.2296A>G (p.Lys766Glu)	FAM135B (K766E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394830	NM_015912.4(FAM135B):c.2657T>C (p.Ile886Thr)	FAM135B (I886T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393478	NM_015912.4(FAM135B):c.2752C>T (p.Leu918Phe)	FAM135B (L918F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393319	NM_015912.4(FAM135B):c.1451A>T (p.Glu484Val)	FAM135B (E484V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378847	NM_015912.4(FAM135B):c.145G>A (p.Ala49Thr)	FAM135B (A49T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374413	NM_015912.4(FAM135B):c.767G>A (p.Arg256His)	FAM135B (R256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374043	NM_015912.4(FAM135B):c.826G>T (p.Ala276Ser)	FAM135B (A276S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369781	NM_015912.4(FAM135B):c.1864A>G (p.Ile622Val)	FAM135B (I622V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361338	NM_015912.4(FAM135B):c.3152C>A (p.Thr1051Asn)	FAM135B (T1051N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358345	NM_015912.4(FAM135B):c.1354A>T (p.Ser452Cys)	FAM135B (S452C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353422	NM_015912.4(FAM135B):c.551G>A (p.Arg184His)	FAM135B (R184H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349027	NM_015912.4(FAM135B):c.2507C>T (p.Ala836Val)	FAM135B (A836V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333983	NM_015912.4(FAM135B):c.2927C>T (p.Pro976Leu)	FAM135B (P976L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2327351	NM_015912.4(FAM135B):c.1702C>T (p.Pro568Ser)	FAM135B (P568S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326203	NM_015912.4(FAM135B):c.2132G>A (p.Arg711Gln)	FAM135B (R711Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325521	NM_015912.4(FAM135B):c.1792G>A (p.Gly598Ser)	FAM135B (G598S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324777	NM_015912.4(FAM135B):c.3056C>T (p.Thr1019Ile)	FAM135B (T1019I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315826	NM_015912.4(FAM135B):c.1676G>A (p.Ser559Asn)	FAM135B (S559N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299250	NM_015912.4(FAM135B):c.3823G>A (p.Gly1275Arg)	FAM135B (G1275R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296038	NM_015912.4(FAM135B):c.335A>C (p.Lys112Thr)	FAM135B (K112T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287235	NM_015912.4(FAM135B):c.2374G>C (p.Asp792His)	FAM135B (D792H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277303	NM_015912.4(FAM135B):c.4094A>T (p.Asn1365Ile)	FAM135B (N1365I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263570	NM_015912.4(FAM135B):c.4171C>T (p.Leu1391Phe)	FAM135B (L1391F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255759	NM_015912.4(FAM135B):c.1749T>G (p.Asp583Glu)	FAM135B (D583E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251003	NM_015912.4(FAM135B):c.1937C>G (p.Ser646Cys)	FAM135B (S646C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244320	NM_015912.4(FAM135B):c.1778G>A (p.Ser593Asn)	FAM135B (S593N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238110	NM_015912.4(FAM135B):c.868C>A (p.Leu290Ile)	FAM135B (L290I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238109	NM_015912.4(FAM135B):c.2279G>A (p.Arg760Gln)	FAM135B (R760Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237686	NM_015912.4(FAM135B):c.649T>G (p.Cys217Gly)	FAM135B (C217G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235975	NM_015912.4(FAM135B):c.3082G>A (p.Val1028Met)	FAM135B (V1028M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235671	NM_015912.4(FAM135B):c.586C>T (p.Pro196Ser)	FAM135B (P196S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233583	NM_015912.4(FAM135B):c.241G>A (p.Val81Ile)	FAM135B (V81I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226976	NM_015912.4(FAM135B):c.2662C>G (p.Leu888Val)	FAM135B (L888V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217812	NM_015912.4(FAM135B):c.3248C>T (p.Thr1083Met)	FAM135B (T1083M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215745	NM_015912.4(FAM135B):c.1814T>G (p.Ile605Ser)	FAM135B (I605S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic

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