ClinVar for Gene (Select 23196) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277123	NM_198841.4(FAM120AOS):c.498C>G (p.Ser166Arg)	FAM120A, FAM120AOS (S166R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3277122	NM_198841.4(FAM120AOS):c.468G>C (p.Leu156Phe)	FAM120A, FAM120AOS (L156F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3277121	NM_198841.4(FAM120AOS):c.462C>G (p.Cys154Trp)	FAM120A, FAM120AOS (C154W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3277120	NM_198841.4(FAM120AOS):c.393T>G (p.Phe131Leu)	FAM120A, FAM120AOS (F131L)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3277119	NM_198841.4(FAM120AOS):c.190T>C (p.Ser64Pro)	FAM120A, FAM120AOS +1 more (S64P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3277118	NM_198841.4(FAM120AOS):c.20T>C (p.Ile7Thr)	FAM120A, FAM120AOS (I7T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3277116	NM_014612.5(FAM120A):c.2600C>A (p.Pro867His)	FAM120A (P867H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277115	NM_014612.5(FAM120A):c.1283C>T (p.Thr428Met)	FAM120A (T428M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277114	NM_014612.5(FAM120A):c.2524G>A (p.Val842Ile)	FAM120A (V841I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3091739	NM_198841.4(FAM120AOS):c.304C>G (p.Arg102Gly)	FAM120A, FAM120AOS +1 more (R102G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3091738	NM_198841.4(FAM120AOS):c.163A>G (p.Ile55Val)	FAM120A, FAM120AOS +1 more (I55V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3091737	NM_014612.5(FAM120A):c.921C>G (p.Phe307Leu)	FAM120A (F307L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091735	NM_014612.5(FAM120A):c.872G>A (p.Arg291His)	FAM120A (R291H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091734	NM_014612.5(FAM120A):c.578A>G (p.Asn193Ser)	FAM120A (N193S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091733	NM_014612.5(FAM120A):c.3311G>A (p.Arg1104His)	FAM120A (R1103H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091732	NM_014612.5(FAM120A):c.3260C>T (p.Thr1087Met)	FAM120A (T1086M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091731	NM_014612.5(FAM120A):c.3169G>A (p.Glu1057Lys)	FAM120A (E1056K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091730	NM_014612.5(FAM120A):c.2899C>T (p.Arg967Trp)	FAM120A (R967W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091728	NM_014612.5(FAM120A):c.2609C>T (p.Ala870Val)	FAM120A (A869V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3091727	NM_014612.5(FAM120A):c.2434C>T (p.Leu812Phe)	FAM120A (L811F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091726	NM_014612.5(FAM120A):c.2222C>T (p.Ala741Val)	FAM120A (A741V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091725	NM_014612.5(FAM120A):c.1759A>G (p.Ile587Val)	FAM120A (I587V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091724	NM_014612.5(FAM120A):c.1411G>A (p.Ala471Thr)	FAM120A (A471T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 2659314	NM_014612.5(FAM120A):c.1518G>A (p.Ser506=)	FAM120A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659313	NM_014612.5(FAM120A):c.1164G>A (p.Pro388=)	FAM120A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659312	NM_014612.5(FAM120A):c.721+21A>T	FAM120A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2615854	NM_198841.4(FAM120AOS):c.194G>A (p.Arg65Gln)	FAM120A, FAM120AOS +1 more (R65Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2555055	NM_014612.5(FAM120A):c.3145C>G (p.Leu1049Val)	FAM120A (L1048V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553974	NM_198841.4(FAM120AOS):c.492C>A (p.Phe164Leu)	FAM120A, FAM120AOS (E101D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533054	NM_014612.5(FAM120A):c.107G>A (p.Arg36Gln)	FAM120A, FAM120AOS +1 more (R36Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510987	NM_014612.5(FAM120A):c.1238C>T (p.Thr413Met)	FAM120A (T412M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487727	NM_014612.5(FAM120A):c.1534G>A (p.Gly512Arg)	FAM120A (G511R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481559	NM_014612.5(FAM120A):c.2896G>C (p.Gly966Arg)	FAM120A (G965R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429029	NM_014612.5(FAM120A):c.2057G>T (p.Arg686Leu)	FAM120A (R685L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2389185	NM_014612.5(FAM120A):c.1246A>G (p.Asn416Asp)	FAM120A (N416D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380457	NM_014612.5(FAM120A):c.2831G>A (p.Gly944Glu)	FAM120A (G943E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358226	NM_014612.5(FAM120A):c.3211G>A (p.Ala1071Thr)	FAM120A (A1070T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2357522	NM_198841.4(FAM120AOS):c.132G>C (p.Trp44Cys)	FAM120A, FAM120AOS (W44C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2351936	NM_014612.5(FAM120A):c.2615C>T (p.Pro872Leu)	FAM120A (P871L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349522	NM_014612.5(FAM120A):c.2573C>T (p.Pro858Leu)	FAM120A (P857L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344482	NM_014612.5(FAM120A):c.1163C>T (p.Pro388Leu)	FAM120A (P387L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338427	NM_014612.5(FAM120A):c.1577T>C (p.Val526Ala)	FAM120A (V526A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338192	NM_014612.5(FAM120A):c.1309A>G (p.Ile437Val)	FAM120A (I437V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311680	NM_014612.5(FAM120A):c.113G>A (p.Arg38Gln)	FAM120A, FAM120AOS +1 more (R38Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307978	NM_014612.5(FAM120A):c.1741A>G (p.Ile581Val)	FAM120A (I580V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303834	NM_014612.5(FAM120A):c.2726C>T (p.Ala909Val)	FAM120A (A908V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303405	NM_014612.5(FAM120A):c.3071C>T (p.Ala1024Val)	FAM120A (A1023V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302987	NM_014612.5(FAM120A):c.962T>A (p.Phe321Tyr)	FAM120A (F321Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272483	NM_198841.4(FAM120AOS):c.305G>A (p.Arg102Gln)	FAM120A, FAM120AOS +1 more (R102Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2254155	NM_014612.5(FAM120A):c.1159G>A (p.Ala387Thr)	FAM120A (A387T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250393	NM_014612.5(FAM120A):c.1505A>C (p.Lys502Thr)	FAM120A (K502T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240149	NM_014612.5(FAM120A):c.2242C>T (p.Leu748Phe)	FAM120A (L747F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238214	NM_014612.5(FAM120A):c.2549G>A (p.Arg850Lys)	FAM120A (R849K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227602	NM_014612.5(FAM120A):c.3195C>G (p.Asn1065Lys)	FAM120A (N1064K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227424	NM_014612.5(FAM120A):c.2560A>G (p.Thr854Ala)	FAM120A (T854A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808833	GRCh37/hg19 9q22.31-22.32(chr9:95711603-98469214)x1	AOPEP, BARX1 +22 more	Copy number loss	not provided	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1676467	NM_014612.5(FAM120A):c.1988C>A (p.Ala663Asp)	FAM120A (A662D +1 more)	Single nucleotide variant	not provided	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1341973	GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1	ALDOB, ALG2 +87 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 1339998	GRCh37/hg19 9q22.31(chr9:96245902-96568421)x1	FAM120A, PHF2	Copy number loss	not provided	GUncertain significance
Select item 1290270	NM_014612.5(FAM120A):c.1418+121T>C	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284214	NM_014612.5(FAM120A):c.1419-168C>T	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281727	NM_014612.5(FAM120A):c.2669-155del	FAM120A	Deletion (intron variant)	not provided	GBenign
Select item 1280653	NM_014612.5(FAM120A):c.2274+39C>T	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280652	NM_014612.5(FAM120A):c.1734+304A>G	FAM120A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1278442	NM_014612.5(FAM120A):c.762C>T (p.His254=)	FAM120A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1275524	NM_014612.5(FAM120A):c.805-171C>T	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265266	NM_014612.5(FAM120A):c.1131+49C>T	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263092	NM_014612.5(FAM120A):c.1418+24G>A	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262418	NM_014612.5(FAM120A):c.3046-155G>A	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261852	NM_014612.5(FAM120A):c.1419-206G>A	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258475	NM_014612.5(FAM120A):c.2159+229T>C	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258446	NM_014612.5(FAM120A):c.*296T>A	FAM120A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1253383	NM_014612.5(FAM120A):c.2160-278G>A	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250350	NM_014612.5(FAM120A):c.1418+233T>G	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248411	NM_014612.5(FAM120A):c.1734+163A>T	FAM120A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1244777	NM_014612.5(FAM120A):c.804+111C>T	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242467	NM_014612.5(FAM120A):c.1341C>T (p.His447=)	FAM120A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1242459	NM_014612.5(FAM120A):c.3046-169_3046-155del	FAM120A	Deletion (intron variant)	not provided	GBenign
Select item 1241520	NC_000009.12:g.93451539C>T	FAM120A, FAM120AOS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1241147	NM_014612.5(FAM120A):c.933+13dup	FAM120A	Duplication (intron variant)	not provided	GBenign
Select item 1240451	NM_014612.5(FAM120A):c.1506+219C>T	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239120	NM_014612.5(FAM120A):c.474+192A>G	FAM120A, FAM120AOS	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1236423	NM_014612.5(FAM120A):c.1131+50G>A	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232779	NM_014612.5(FAM120A):c.1158C>T (p.Gly386=)	FAM120A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1227460	NM_014612.5(FAM120A):c.2484+270C>A	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180290	NC_000009.12:g.93451378G>T	FAM120A, FAM120AOS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1179903	NM_014612.5(FAM120A):c.1131+44G>C	FAM120A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178731	NM_014612.5(FAM120A):c.474+257G>A	FAM120A, FAM120AOS (L22F)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 929316	GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1	TSTD2, XPA +84 more	Copy number loss	See cases	GPathogenic
Select item 873324	Single allele	BARX1, FAM120A +11 more	Duplication	Delayed gross motor development +5 more	GLikely pathogenic
Select item 733835	NM_198841.4(FAM120AOS):c.270del (p.Ile90fs)	FAM120A, FAM120AOS +1 more (I90fs)	Deletion (frameshift variant +2 more)	not provided	GLikely benign
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic

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