"Ambry Genetics"[submitter] AND "FAM83H"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2326258	NM_198488.5(FAM83H):c.3488A>G (p.Lys1163Arg)	FAM83H (K1163R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306273	NM_198488.5(FAM83H):c.3398A>G (p.Tyr1133Cys)	FAM83H (Y1133C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409859	NM_198488.5(FAM83H):c.3359T>A (p.Leu1120Gln)	FAM83H (L1120Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550368	NM_198488.5(FAM83H):c.3352C>T (p.Arg1118Trp)	FAM83H (R1118W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209462	NM_198488.5(FAM83H):c.3301A>G (p.Thr1101Ala)	FAM83H (T1101A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379906	NM_198488.5(FAM83H):c.3293G>T (p.Ser1098Ile)	FAM83H (S1098I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509979	NM_198488.5(FAM83H):c.3283C>T (p.Arg1095Cys)	FAM83H (R1095C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092663	NM_198488.5(FAM83H):c.3250A>T (p.Met1084Leu)	FAM83H (M1084L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362773	NM_198488.5(FAM83H):c.3224C>T (p.Pro1075Leu)	FAM83H (P1075L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240758	NM_198488.5(FAM83H):c.3214G>A (p.Gly1072Ser)	FAM83H (G1072S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092661	NM_198488.5(FAM83H):c.3194C>A (p.Thr1065Asn)	FAM83H (T1065N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250688	NM_198488.5(FAM83H):c.3193A>C (p.Thr1065Pro)	FAM83H (T1065P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270570	NM_198488.5(FAM83H):c.3187G>A (p.Gly1063Ser)	FAM83H (G1063S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248505	NM_198488.5(FAM83H):c.3164G>A (p.Arg1055His)	FAM83H (R1055H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302869	NM_198488.5(FAM83H):c.3163C>T (p.Arg1055Cys)	FAM83H (R1055C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466921	NM_198488.5(FAM83H):c.3152G>A (p.Gly1051Asp)	FAM83H (G1051D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2565854	NM_198488.5(FAM83H):c.3125C>T (p.Ala1042Val)	FAM83H (A1042V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288685	NM_198488.5(FAM83H):c.3086A>C (p.Asn1029Thr)	FAM83H (N1029T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259630	NM_198488.5(FAM83H):c.3071C>T (p.Ser1024Phe)	FAM83H (S1024F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547543	NM_198488.5(FAM83H):c.3065G>A (p.Arg1022His)	FAM83H (R1022H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598656	NM_198488.5(FAM83H):c.3026G>A (p.Ser1009Asn)	FAM83H (S1009N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208904	NM_198488.5(FAM83H):c.3025A>T (p.Ser1009Cys)	FAM83H (S1009C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211402	NM_198488.5(FAM83H):c.2998C>T (p.Arg1000Trp)	FAM83H (R1000W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361819	NM_198488.5(FAM83H):c.2995C>T (p.Pro999Ser)	FAM83H (P999S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092657	NM_198488.5(FAM83H):c.2980G>C (p.Gly994Arg)	FAM83H (G994R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324348	NM_198488.5(FAM83H):c.2946G>C (p.Glu982Asp)	FAM83H (E982D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380149	NM_198488.5(FAM83H):c.2945A>G (p.Glu982Gly)	FAM83H (E982G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2563444	NM_198488.5(FAM83H):c.2943G>A (p.Met981Ile)	FAM83H (M981I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456034	NM_198488.5(FAM83H):c.2938C>T (p.Arg980Cys)	FAM83H (R980C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282660	NM_198488.5(FAM83H):c.2852C>T (p.Ala951Val)	FAM83H (A951V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2375673	NM_198488.5(FAM83H):c.2842G>A (p.Ala948Thr)	FAM83H (A948T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2294967	NM_198488.5(FAM83H):c.2821A>G (p.Ile941Val)	FAM83H (I941V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092656	NM_198488.5(FAM83H):c.2674A>C (p.Ser892Arg)	FAM83H (S892R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454615	NM_198488.5(FAM83H):c.2633G>A (p.Arg878Gln)	FAM83H (R878Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457510	NM_198488.5(FAM83H):c.2627C>T (p.Pro876Leu)	FAM83H (P876L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259491	NM_198488.5(FAM83H):c.2567G>T (p.Gly856Val)	FAM83H (G856V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092655	NM_198488.5(FAM83H):c.2534C>T (p.Pro845Leu)	FAM83H (P845L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623699	NM_198488.5(FAM83H):c.2534C>A (p.Pro845Gln)	FAM83H (P845Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092654	NM_198488.5(FAM83H):c.2527A>G (p.Thr843Ala)	FAM83H (T843A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092653	NM_198488.5(FAM83H):c.2525C>T (p.Ser842Leu)	FAM83H (S842L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400182	NM_198488.5(FAM83H):c.2498C>T (p.Ser833Phe)	FAM83H (S833F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 725742	NM_198488.5(FAM83H):c.2489G>A (p.Arg830His)	FAM83H (R830H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3092652	NM_198488.5(FAM83H):c.2465C>T (p.Thr822Ile)	FAM83H (T822I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485122	NM_198488.5(FAM83H):c.2447C>T (p.Ala816Val)	FAM83H (A816V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248360	NM_198488.5(FAM83H):c.2383G>A (p.Asp795Asn)	FAM83H (D795N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305360	NM_198488.5(FAM83H):c.2341G>A (p.Gly781Ser)	FAM83H (G781S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3092651	NM_198488.5(FAM83H):c.2293G>A (p.Val765Met)	FAM83H (V765M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465585	NM_198488.5(FAM83H):c.2260G>A (p.Ala754Thr)	FAM83H (A754T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092650	NM_198488.5(FAM83H):c.2231C>G (p.Pro744Arg)	FAM83H (P744R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474865	NM_198488.5(FAM83H):c.2143G>T (p.Val715Phe)	FAM83H (V715F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404774	NM_198488.5(FAM83H):c.2117T>G (p.Val706Gly)	FAM83H (V706G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092649	NM_198488.5(FAM83H):c.2095G>A (p.Ala699Thr)	FAM83H (A699T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2256973	NM_198488.5(FAM83H):c.2089G>T (p.Ala697Ser)	FAM83H (A697S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242894	NM_198488.5(FAM83H):c.2077G>A (p.Ala693Thr)	FAM83H (A693T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367803	NM_198488.5(FAM83H):c.2009C>T (p.Ser670Leu)	FAM83H (S670L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478576	NM_198488.5(FAM83H):c.1934C>G (p.Pro645Arg)	FAM83H (P645R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248896	NM_198488.5(FAM83H):c.1933C>T (p.Pro645Ser)	FAM83H (P645S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2205960	NM_198488.5(FAM83H):c.1916A>T (p.Lys639Met)	FAM83H (K639M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366257	NM_198488.5(FAM83H):c.1908C>A (p.Phe636Leu)	FAM83H (F636L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376271	NM_198488.5(FAM83H):c.1901C>G (p.Ala634Gly)	FAM83H (A634G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410645	NM_198488.5(FAM83H):c.1897C>G (p.Pro633Ala)	FAM83H (P633A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092648	NM_198488.5(FAM83H):c.1895T>G (p.Val632Gly)	FAM83H (V632G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092647	NM_198488.5(FAM83H):c.1886C>T (p.Ala629Val)	FAM83H (A629V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092646	NM_198488.5(FAM83H):c.1883C>T (p.Ser628Leu)	FAM83H (S628L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312887	NM_198488.5(FAM83H):c.1870G>A (p.Asp624Asn)	FAM83H (D624N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543091	NM_198488.5(FAM83H):c.1738C>T (p.Arg580Cys)	FAM83H (R580C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092645	NM_198488.5(FAM83H):c.1709G>T (p.Gly570Val)	FAM83H (G570V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274795	NM_198488.5(FAM83H):c.1681G>A (p.Ala561Thr)	FAM83H (A561T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2521638	NM_198488.5(FAM83H):c.1661C>T (p.Ala554Val)	FAM83H (A554V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556802	NM_198488.5(FAM83H):c.1625C>T (p.Pro542Leu)	FAM83H (P542L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092644	NM_198488.5(FAM83H):c.1616C>T (p.Ala539Val)	FAM83H (A539V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602185	NM_198488.5(FAM83H):c.1595G>T (p.Arg532Leu)	FAM83H (R532L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397126	NM_198488.5(FAM83H):c.1583C>T (p.Ala528Val)	FAM83H (A528V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546893	NM_198488.5(FAM83H):c.1576G>A (p.Ala526Thr)	FAM83H (A526T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408592	NM_198488.5(FAM83H):c.1564G>A (p.Gly522Ser)	FAM83H (G522S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327831	NM_198488.5(FAM83H):c.1544C>G (p.Ala515Gly)	FAM83H (A515G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092643	NM_198488.5(FAM83H):c.1531G>C (p.Val511Leu)	FAM83H (V511L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092642	NM_198488.5(FAM83H):c.1519C>G (p.Arg507Gly)	FAM83H (R507G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092641	NM_198488.5(FAM83H):c.1501G>A (p.Gly501Arg)	FAM83H (G501R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472505	NM_198488.5(FAM83H):c.1435G>C (p.Gly479Arg)	FAM83H (G479R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215597	NM_198488.5(FAM83H):c.1334C>T (p.Thr445Ile)	FAM83H (T445I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297133	NM_198488.5(FAM83H):c.1323C>G (p.Phe441Leu)	FAM83H (F441L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588280	NM_198488.5(FAM83H):c.1292G>T (p.Arg431Leu)	FAM83H (R431L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092640	NM_198488.5(FAM83H):c.1246G>A (p.Gly416Ser)	FAM83H (G416S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516610	NM_198488.5(FAM83H):c.1217C>A (p.Ala406Asp)	FAM83H (A406D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390210	NM_198488.5(FAM83H):c.1213G>A (p.Asp405Asn)	FAM83H (D405N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092639	NM_198488.5(FAM83H):c.1186T>C (p.Phe396Leu)	FAM83H (F396L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596059	NM_198488.5(FAM83H):c.1184G>C (p.Gly395Ala)	FAM83H (G395A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538890	NM_198488.5(FAM83H):c.1184G>T (p.Gly395Val)	FAM83H (G395V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551935	NM_198488.5(FAM83H):c.1175G>C (p.Gly392Ala)	FAM83H (G392A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402340	NM_198488.5(FAM83H):c.1175G>A (p.Gly392Asp)	FAM83H (G392D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366705	NM_198488.5(FAM83H):c.1132C>T (p.Arg378Trp)	FAM83H (R378W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392255	NM_198488.5(FAM83H):c.1121G>A (p.Arg374Gln)	FAM83H (R374Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092637	NM_198488.5(FAM83H):c.1082G>T (p.Arg361Leu)	FAM83H (R361L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353753	NM_198488.5(FAM83H):c.1069G>A (p.Glu357Lys)	FAM83H (E357K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218624	NM_198488.5(FAM83H):c.1039G>C (p.Asp347His)	FAM83H (D347H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092636	NM_198488.5(FAM83H):c.1037C>T (p.Pro346Leu)	FAM83H (P346L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092635	NM_198488.5(FAM83H):c.1030C>T (p.Leu344Phe)	FAM83H (L344F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606416	NM_198488.5(FAM83H):c.1027T>C (p.Phe343Leu)	FAM83H (F343L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544543	NM_198488.5(FAM83H):c.1015G>A (p.Gly339Ser)	FAM83H (G339S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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