286077[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 298

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 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	LOC130001144, LOC130001145 +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	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +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 3233960	NM_198488.5(FAM83H):c.3403C>T (p.Arg1135Cys)	FAM83H (R1135C)	Single nucleotide variant (missense variant)	not specified	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 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 3051740	NM_198488.5(FAM83H):c.3211C>G (p.Leu1071Val)	FAM83H (L1071V)	Single nucleotide variant (missense variant)	FAM83H-related disorder	GLikely benign
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 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 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 3277540	NM_198488.5(FAM83H):c.2941A>C (p.Met981Leu)	FAM83H (M981L)	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 +2 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	FAM83H-related disorder	GBenign
Select item 2635472	NM_198488.5(FAM83H):c.2792C>T (p.Pro931Leu)	FAM83H (P931L)	Single nucleotide variant (missense variant)	FAM83H-related disorder	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	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 3092656	NM_198488.5(FAM83H):c.2674A>C (p.Ser892Arg)	FAM83H (S892R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037691	NM_198488.5(FAM83H):c.2638G>A (p.Gly880Arg)	FAM83H (G880R)	Single nucleotide variant (missense variant)	FAM83H-related disorder	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 3277548	NM_198488.5(FAM83H):c.2590C>T (p.His864Tyr)	FAM83H (H864Y)	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 3277546	NM_198488.5(FAM83H):c.2554C>G (p.Leu852Val)	FAM83H (L852V)	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 3277545	NM_198488.5(FAM83H):c.2510C>T (p.Ser837Phe)	FAM83H (S837F)	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)	not provided +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 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 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 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

<< First< Prev

Page of 3