FAM83H[Gene Name] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	PARP10, PCAT1 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130000867, LOC130000868 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC130001282, LOC130001283 +1552 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	AARD, ABRA +1531 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1329 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001243, LOC130001244 +1204 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001328, LOC130001329 +1067 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC114827840, LOC121331310 +961 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC129390060, LOC129929031 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	LOC126860527, LOC126860528 +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	LOC130001259, LOC130001260 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	MIR10400, MIR1234 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 152355	GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	ADGRB1, ARC +172 more	Copy number loss	See cases	GPathogenic
Select item 146735	GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1	ADGRB1, ARC +140 more	Copy number loss	See cases	GPathogenic
Select item 60411	GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1	BOP1, CCDC166 +87 more	Copy number loss	See cases	GPathogenic
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 782519	NM_198488.5(FAM83H):c.3338C>T (p.Ala1113Val)	FAM83H (A1113V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1400641	NM_198488.5(FAM83H):c.3319C>T (p.Arg1107Cys)	FAM83H (R1107C)	Single nucleotide variant (missense variant)	not provided	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 2580470	NM_198488.5(FAM83H):c.3272C>T (p.Ser1091Leu)	FAM83H (S1091L)	Single nucleotide variant (missense variant)	not provided	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 3051740	NM_198488.5(FAM83H):c.3211C>G (p.Leu1071Val)	FAM83H (L1071V)	Single nucleotide variant (missense variant)	FAM83H-related condition	GLikely benign
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 792113	NM_198488.5(FAM83H):c.3192G>A (p.Pro1064=)	FAM83H	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 725599	NM_198488.5(FAM83H):c.3117C>T (p.Asp1039=)	FAM83H	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 263136	NM_198488.5(FAM83H):c.3059G>A (p.Arg1020Gln)	FAM83H (R1020Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
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 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 263135	NM_198488.5(FAM83H):c.2884C>T (p.Leu962=)	FAM83H	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
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 3040916	NM_198488.5(FAM83H):c.2770_2802del (p.Ser924_Arg934del)	FAM83H	Deletion (inframe deletion)	FAM83H-related condition	GBenign
Select item 2635472	NM_198488.5(FAM83H):c.2792C>T (p.Pro931Leu)	FAM83H (P931L)	Single nucleotide variant (missense variant)	FAM83H-related condition	GUncertain significance
Select item 3067323	NM_198488.5(FAM83H):c.2737_2769del (p.Gly913_Arg923del)	FAM83H	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 96981	NM_198488.5(FAM83H):c.2766C>T (p.Arg922=)	FAM83H	Single nucleotide variant (synonymous variant)	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	Gnot provided
Select item 96980	NM_198488.5(FAM83H):c.2765G>T (p.Arg922Leu)	FAM83H (R922L)	Single nucleotide variant (missense variant)	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	Gnot provided
Select item 1288358	NM_198488.5(FAM83H):c.2705G>A (p.Gly902Glu)	FAM83H (G902E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 780133	NM_198488.5(FAM83H):c.2678C>A (p.Pro893Gln)	FAM83H (P893Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3037691	NM_198488.5(FAM83H):c.2638G>A (p.Gly880Arg)	FAM83H (G880R)	Single nucleotide variant (missense variant)	FAM83H-related condition	GLikely benign
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 792114	NM_198488.5(FAM83H):c.2625C>T (p.Tyr875=)	FAM83H	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 743468	NM_198488.5(FAM83H):c.2616C>G (p.Thr872=)	FAM83H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2623699	NM_198488.5(FAM83H):c.2534C>A (p.Pro845Gln)	FAM83H (P845Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 795113	NM_198488.5(FAM83H):c.2505C>T (p.Phe835=)	FAM83H	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 718450	NM_198488.5(FAM83H):c.2457G>A (p.Leu819=)	FAM83H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1049341	NM_198488.5(FAM83H):c.2377del (p.Leu793fs)	FAM83H (L793fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1251629	NM_198488.5(FAM83H):c.2363G>A (p.Ser788Asn)	FAM83H (S788N)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2465585	NM_198488.5(FAM83H):c.2260G>A (p.Ala754Thr)	FAM83H (A754T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 96979	NM_198488.5(FAM83H):c.2250C>T (p.Gly750=)	FAM83H	Single nucleotide variant (synonymous variant)	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	Gnot provided
Select item 737442	NM_198488.5(FAM83H):c.2236C>T (p.Arg746Cys)	FAM83H (R746C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 792115	NM_198488.5(FAM83H):c.2158G>A (p.Gly720Arg)	FAM83H (G720R)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2256973	NM_198488.5(FAM83H):c.2089G>T (p.Ala697Ser)	FAM83H (A697S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717910	NM_198488.5(FAM83H):c.2081A>T (p.Glu694Val)	FAM83H (E694V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778	NM_198488.5(FAM83H):c.2080G>T (p.Glu694Ter)	FAM83H (E694*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta, hypocalcification type	GPathogenic
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 775	NM_198488.5(FAM83H):c.2029C>T (p.Gln677Ter)	FAM83H (Q677*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 2658907	NM_198488.5(FAM83H):c.1923G>A (p.Pro641=)	FAM83H	Single nucleotide variant (synonymous variant)	not provided	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

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