ClinVar for Gene (Select 114827) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278770	NM_001391957.1(FHAD1):c.27A>C (p.Glu9Asp)	FHAD1 (E9D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278769	NM_001391957.1(FHAD1):c.3230G>C (p.Ser1077Thr)	FHAD1 (S1055T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278768	NM_001391957.1(FHAD1):c.4031A>G (p.Lys1344Arg)	FHAD1 (K1344R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278767	NM_001391957.1(FHAD1):c.106G>A (p.Asp36Asn)	FHAD1 (D36N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278766	NM_001391957.1(FHAD1):c.2035G>A (p.Glu679Lys)	FHAD1, FHAD1-AS1 (E679K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278765	NM_001391957.1(FHAD1):c.3826G>A (p.Gly1276Arg)	FHAD1 (G1276R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278764	NM_001391957.1(FHAD1):c.2905A>T (p.Thr969Ser)	FHAD1 (T947S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3094896	NM_001391957.1(FHAD1):c.68A>T (p.His23Leu)	FHAD1 (H23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094895	NM_001391957.1(FHAD1):c.608C>G (p.Ala203Gly)	FHAD1 (A203G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094893	NM_001391957.1(FHAD1):c.4135G>A (p.Glu1379Lys)	FHAD1 (E1357K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094892	NM_001391957.1(FHAD1):c.3887A>G (p.Gln1296Arg)	FHAD1 (Q1296R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094891	NM_001391957.1(FHAD1):c.3790A>G (p.Ser1264Gly)	FHAD1 (S1242G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094890	NM_001391957.1(FHAD1):c.3736G>A (p.Gly1246Ser)	FHAD1 (G1224S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094888	NM_001391957.1(FHAD1):c.3479G>A (p.Cys1160Tyr)	FHAD1 (C1160Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094887	NM_001391957.1(FHAD1):c.3128C>A (p.Ala1043Asp)	FHAD1 (A1043D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094886	NM_001391957.1(FHAD1):c.3007A>T (p.Thr1003Ser)	FHAD1 (T1003S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094885	NM_001391957.1(FHAD1):c.2981C>T (p.Pro994Leu)	FHAD1 (P994L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094884	NM_001391957.1(FHAD1):c.2932G>A (p.Glu978Lys)	FHAD1 (E978K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094883	NM_001391957.1(FHAD1):c.2814C>A (p.His938Gln)	FHAD1 (H916Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094881	NM_001391957.1(FHAD1):c.2683G>T (p.Ala895Ser)	FHAD1 (A895S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094880	NM_001391957.1(FHAD1):c.2503A>T (p.Met835Leu)	FHAD1, LOC126805631 (M835L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094879	NM_001391957.1(FHAD1):c.2383G>A (p.Ala795Thr)	FHAD1 (A773T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094877	NM_001391957.1(FHAD1):c.2326C>G (p.Arg776Gly)	FHAD1 (R776G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094876	NM_001391957.1(FHAD1):c.2217C>G (p.Ser739Arg)	FHAD1 (S717R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094874	NM_001391957.1(FHAD1):c.2140G>A (p.Glu714Lys)	FHAD1 (E692K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094873	NM_001391957.1(FHAD1):c.2118G>C (p.Thr706=)	FHAD1, FHAD1-AS1 (G683R)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3094872	NM_001391957.1(FHAD1):c.181G>A (p.Gly61Ser)	FHAD1 (G61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094871	NM_001391957.1(FHAD1):c.1438G>A (p.Val480Ile)	FHAD1 (V480I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094870	NM_001391957.1(FHAD1):c.1002G>C (p.Glu334Asp)	FHAD1 (E334D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062911	GRCh37/hg19 1p36.21(chr1:13922015-16013972)x1	AGMAT, CASP9 +13 more	Copy number loss	not specified	GUncertain significance
Select item 3025661	NM_001391957.1(FHAD1):c.1182A>G (p.Leu394=)	FHAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638291	NM_001391957.1(FHAD1):c.2982G>A (p.Pro994=)	FHAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620291	NM_001391957.1(FHAD1):c.1649C>T (p.Ser550Phe)	FHAD1, FHAD1-AS1 (S550F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2600237	NM_001391957.1(FHAD1):c.715C>T (p.Arg239Cys)	FHAD1 (R239C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600232	NM_001391957.1(FHAD1):c.3704C>A (p.Ala1235Glu)	FHAD1 (A1235E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600134	NM_001391957.1(FHAD1):c.4178G>A (p.Arg1393Gln)	FHAD1 (R1393Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594133	NM_001391957.1(FHAD1):c.4024C>T (p.Arg1342Trp)	FHAD1 (R1342W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588112	NM_001391957.1(FHAD1):c.610G>A (p.Glu204Lys)	FHAD1 (E204K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569600	NM_001391957.1(FHAD1):c.2079G>A (p.Glu693=)	FHAD1, FHAD1-AS1 (A670T)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2569040	NM_001391957.1(FHAD1):c.2884G>A (p.Glu962Lys)	FHAD1 (E962K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535942	NM_001391957.1(FHAD1):c.3477G>T (p.Arg1159Ser)	FHAD1 (R1137S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532381	NM_001391957.1(FHAD1):c.2739C>G (p.Ile913Met)	FHAD1 (I891M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528555	NM_001391957.1(FHAD1):c.2281G>A (p.Glu761Lys)	FHAD1 (E739K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526353	NM_001391957.1(FHAD1):c.848A>T (p.Gln283Leu)	FHAD1 (Q283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523223	NM_001391957.1(FHAD1):c.1531C>T (p.Arg511Trp)	FHAD1, FHAD1-AS1 (R511W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2519153	NM_001391957.1(FHAD1):c.56C>G (p.Thr19Arg)	FHAD1 (T19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517015	NM_001391957.1(FHAD1):c.3548T>C (p.Ile1183Thr)	FHAD1 (I1161T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515479	NM_001391957.1(FHAD1):c.3463G>A (p.Asp1155Asn)	FHAD1 (D1133N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490557	NM_001391957.1(FHAD1):c.176G>T (p.Arg59Leu)	FHAD1 (R59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489973	NM_001391957.1(FHAD1):c.2627T>C (p.Met876Thr)	FHAD1 (M854T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488149	NM_001391957.1(FHAD1):c.2159G>A (p.Arg720Lys)	FHAD1 (R720K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2481374	NM_001391957.1(FHAD1):c.20G>C (p.Ser7Thr)	FHAD1 (S7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471028	NM_001391957.1(FHAD1):c.2815G>A (p.Gly939Arg)	FHAD1 (G917R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462291	NM_001391957.1(FHAD1):c.3249G>A (p.Met1083Ile)	FHAD1 (M1083I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458789	NM_001391957.1(FHAD1):c.544C>T (p.Arg182Cys)	FHAD1, LOC126805629 (R182C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455429	NM_001391957.1(FHAD1):c.3578A>G (p.Asp1193Gly)	FHAD1 (D1193G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2410346	NM_001391957.1(FHAD1):c.1691C>T (p.Thr564Met)	FHAD1, FHAD1-AS1 (T564M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2409340	NM_001391957.1(FHAD1):c.3707C>T (p.Pro1236Leu)	FHAD1 (P1236L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407908	NM_001391957.1(FHAD1):c.3581A>G (p.His1194Arg)	FHAD1 (H1172R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407724	NM_001391957.1(FHAD1):c.1660G>A (p.Glu554Lys)	FHAD1, FHAD1-AS1 (E554K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2406214	NM_001391957.1(FHAD1):c.2192G>A (p.Arg731Gln)	FHAD1 (R709Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2397002	NM_001391957.1(FHAD1):c.364C>G (p.Gln122Glu)	FHAD1, LOC126805629 (Q122E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387724	NM_001391957.1(FHAD1):c.2474C>A (p.Ala825Glu)	FHAD1, LOC126805631 (A803E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385605	NM_001391957.1(FHAD1):c.1159C>T (p.Leu387Phe)	FHAD1 (L387F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381335	NM_001391957.1(FHAD1):c.802G>A (p.Val268Met)	FHAD1 (V268M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380549	NM_001391957.1(FHAD1):c.2335C>T (p.Arg779Cys)	FHAD1 (R757C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379007	NM_001391957.1(FHAD1):c.2618C>G (p.Ala873Gly)	FHAD1 (A873G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376498	NM_001391957.1(FHAD1):c.3440G>A (p.Ser1147Asn)	FHAD1 (S1147N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372977	NM_001391957.1(FHAD1):c.971G>A (p.Arg324Gln)	FHAD1 (R324Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370048	NM_001391957.1(FHAD1):c.2486G>A (p.Arg829His)	FHAD1, LOC126805631 (R829H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2368248	NM_001391957.1(FHAD1):c.2521A>C (p.Lys841Gln)	FHAD1, LOC126805631 (K841Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366400	NM_001391957.1(FHAD1):c.2833A>G (p.Met945Val)	FHAD1 (M923V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364757	NM_001391957.1(FHAD1):c.1669G>A (p.Glu557Lys)	FHAD1, FHAD1-AS1 (E557K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2361081	NM_001391957.1(FHAD1):c.2750A>G (p.Glu917Gly)	FHAD1 (E895G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360085	NM_001391957.1(FHAD1):c.959C>T (p.Thr320Ile)	FHAD1 (T320I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359044	NM_001391957.1(FHAD1):c.92A>G (p.Gln31Arg)	FHAD1 (Q31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358346	NM_001391957.1(FHAD1):c.3491G>A (p.Arg1164Gln)	FHAD1 (R1164Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351787	NM_001391957.1(FHAD1):c.3542C>T (p.Ala1181Val)	FHAD1 (A1181V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341014	NM_001391957.1(FHAD1):c.3745A>C (p.Met1249Leu)	FHAD1 (M1227L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328151	NM_001391957.1(FHAD1):c.2200A>G (p.Met734Val)	FHAD1 (M712V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2326816	NM_001391957.1(FHAD1):c.671A>C (p.Gln224Pro)	FHAD1 (Q224P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319222	NM_001391957.1(FHAD1):c.3208C>G (p.Gln1070Glu)	FHAD1 (Q1048E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310441	NM_001391957.1(FHAD1):c.4433A>G (p.Lys1478Arg)	FHAD1 (K1411R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2306889	NM_001391957.1(FHAD1):c.2474C>G (p.Ala825Gly)	FHAD1, LOC126805631 (A825G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295663	NM_001391957.1(FHAD1):c.2246C>T (p.Ala749Val)	FHAD1 (A727V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290631	NM_001391957.1(FHAD1):c.2311C>G (p.Gln771Glu)	FHAD1 (Q771E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286778	NM_001391957.1(FHAD1):c.428C>T (p.Pro143Leu)	FHAD1, LOC126805629 (P143L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281946	NM_001391957.1(FHAD1):c.2308G>A (p.Val770Ile)	FHAD1 (V748I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279602	NM_001391957.1(FHAD1):c.2818T>G (p.Phe940Val)	FHAD1 (F918V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277575	NM_001391957.1(FHAD1):c.1259C>T (p.Thr420Ile)	FHAD1 (T420I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277345	NM_001391957.1(FHAD1):c.4174A>G (p.Ile1392Val)	FHAD1 (I1370V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275828	NM_001391957.1(FHAD1):c.2034G>A (p.Arg678=)	FHAD1, FHAD1-AS1 (G655R)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2269694	NM_001391957.1(FHAD1):c.479C>T (p.Pro160Leu)	FHAD1, LOC126805629 (P160L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252972	NM_001391957.1(FHAD1):c.3030G>A (p.Met1010Ile)	FHAD1 (M988I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251317	NM_001391957.1(FHAD1):c.727T>C (p.Tyr243His)	FHAD1 (Y243H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248139	NM_001391957.1(FHAD1):c.2988C>G (p.Asp996Glu)	FHAD1 (D996E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244445	NM_001391957.1(FHAD1):c.1807A>G (p.Lys603Glu)	FHAD1, FHAD1-AS1 (K603E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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