ClinVar for Gene (Select 8455) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357535	NM_139321.3(ATRN):c.1361T>G (p.Leu454Arg)	ATRN (L338R +1 more)	Single nucleotide variant (missense variant)	ATRN-related disorder	GUncertain significance
Select item 3352615	NM_139321.3(ATRN):c.215TGC[5] (p.Leu77del)	ATRN, LOC130065331 (L77del)	Microsatellite (inframe_deletion +1 more)	ATRN-related disorder	GLikely benign
Select item 3349362	NM_139321.3(ATRN):c.3617A>G (p.Asn1206Ser)	ATRN (N1090S +1 more)	Single nucleotide variant (missense variant)	ATRN-related disorder	GUncertain significance
Select item 3347168	NM_139321.3(ATRN):c.251CGG[5] (p.Ala89del)	ATRN, LOC130065331 (A89del)	Microsatellite (inframe_deletion +1 more)	ATRN-related disorder	GBenign
Select item 3347044	NM_139321.3(ATRN):c.1234G>C (p.Asp412His)	ATRN (D296H +1 more)	Single nucleotide variant (missense variant)	ATRN-related disorder	GUncertain significance
Select item 3332554	NM_139321.3(ATRN):c.674A>G (p.Tyr225Cys)	ATRN (Y225C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332547	NM_139321.3(ATRN):c.1237T>A (p.Ser413Thr)	ATRN (S297T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332537	NM_139321.3(ATRN):c.1661G>C (p.Arg554Pro)	ATRN (R554P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332530	NM_139321.3(ATRN):c.881C>G (p.Pro294Arg)	ATRN (P178R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332521	NM_139321.3(ATRN):c.1367A>G (p.Asn456Ser)	ATRN (N340S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332510	NM_139321.3(ATRN):c.1914C>G (p.Ser638Arg)	ATRN (S638R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332501	NM_139321.3(ATRN):c.3737G>A (p.Arg1246His)	ATRN (R1130H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332491	NM_139321.3(ATRN):c.215T>C (p.Leu72Pro)	ATRN, LOC130065331 (L72P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3248364	NC_000020.10:g.(?_2361615)_(3903941_?)dup	ADAM33, ADISSP +36 more	Duplication	not provided	GUncertain significance
Select item 3248273	NC_000020.10:g.(?_3190198)_(6760201_?)del	DNAAF9, FERMT1 +35 more	Deletion	Inosine triphosphatase deficiency	GPathogenic
Select item 3132150	NM_139321.3(ATRN):c.82G>T (p.Gly28Trp)	ATRN, LOC130065331 (G28W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132149	NM_139321.3(ATRN):c.787A>C (p.Ser263Arg)	ATRN (S147R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132148	NM_139321.3(ATRN):c.755A>G (p.Asn252Ser)	ATRN (N252S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132147	NM_139321.3(ATRN):c.731C>T (p.Thr244Ile)	ATRN (T128I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132145	NM_139321.3(ATRN):c.4192G>C (p.Asp1398His)	ATRN (D1398H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132144	NM_139321.3(ATRN):c.4034T>C (p.Ile1345Thr)	ATRN (I1345T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132143	NM_139321.3(ATRN):c.3975C>G (p.Ser1325Arg)	ATRN (S1325R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132142	NM_139321.3(ATRN):c.386G>A (p.Cys129Tyr)	ATRN (C129Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132141	NM_139321.3(ATRN):c.3406G>A (p.Glu1136Lys)	ATRN (E1020K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132140	NM_139321.3(ATRN):c.3083C>T (p.Pro1028Leu)	ATRN (P1028L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132139	NM_139321.3(ATRN):c.3079A>G (p.Met1027Val)	ATRN (M911V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132138	NM_139321.3(ATRN):c.2812G>A (p.Ala938Thr)	ATRN (A938T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132137	NM_139321.3(ATRN):c.2651C>T (p.Pro884Leu)	ATRN (P884L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132136	NM_139321.3(ATRN):c.2549A>G (p.Lys850Arg)	ATRN (K734R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132134	NM_139321.3(ATRN):c.2407A>G (p.Thr803Ala)	ATRN (T803A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132133	NM_139321.3(ATRN):c.2153A>G (p.Asn718Ser)	ATRN (N602S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132132	NM_139321.3(ATRN):c.1624C>G (p.Gln542Glu)	ATRN (Q426E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132131	NM_139321.3(ATRN):c.1260G>C (p.Glu420Asp)	ATRN (E304D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132130	NM_139321.3(ATRN):c.1190T>C (p.Leu397Ser)	ATRN (L397S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062412	GRCh37/hg19 20p13(chr20:3169728-3642646)x1	ATRN, DDRGK1 +4 more	Copy number loss	not specified	GUncertain significance
Select item 3062409	GRCh37/hg19 20p13(chr20:2640674-4323312)x3	OXT, PANK2 +33 more	Copy number gain	not specified	GUncertain significance
Select item 3053188	NM_139321.3(ATRN):c.798C>T (p.Ser266=)	ATRN	Single nucleotide variant (synonymous variant)	ATRN-related disorder	GLikely benign
Select item 3052923	NM_139321.3(ATRN):c.4278G>C (p.Gly1426=)	ATRN	Single nucleotide variant (synonymous variant)	ATRN-related disorder	GLikely benign
Select item 3052390	NM_139321.3(ATRN):c.402C>T (p.Gly134=)	ATRN	Single nucleotide variant (synonymous variant +1 more)	ATRN-related disorder	GLikely benign
Select item 3047881	NM_139321.3(ATRN):c.177A>C (p.Pro59=)	ATRN, LOC130065331	Single nucleotide variant (synonymous variant +1 more)	ATRN-related disorder	GLikely benign
Select item 3041871	NM_139321.3(ATRN):c.-44T>G	ATRN, LOC130065331	Single nucleotide variant (5 prime UTR variant)	ATRN-related disorder	GLikely benign
Select item 3035309	NM_139321.3(ATRN):c.468G>A (p.Thr156=)	ATRN	Single nucleotide variant (synonymous variant)	ATRN-related disorder	GLikely benign
Select item 3035251	NM_139321.3(ATRN):c.1203+8A>G	ATRN	Single nucleotide variant (intron variant)	ATRN-related disorder	GLikely benign
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TMEM74B, TMX4 +114 more	Copy number gain	not provided	GPathogenic
Select item 3019577	NM_139321.3(ATRN):c.477G>A (p.Thr159=)	ATRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018537	NM_139321.3(ATRN):c.737+5G>C	ATRN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3017617	NM_139321.3(ATRN):c.1375G>C (p.Val459Leu)	ATRN (V343L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014640	NM_139321.3(ATRN):c.4094A>G (p.Lys1365Arg)	ATRN (K1365R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3008462	NM_139321.3(ATRN):c.246G>A (p.Glu82=)	ATRN, LOC130065331	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006671	NM_139321.3(ATRN):c.45G>A (p.Arg15=)	ATRN, LOC130065331	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006029	NM_139321.3(ATRN):c.1428T>C (p.Asn476=)	ATRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003994	NM_139321.3(ATRN):c.2416A>G (p.Lys806Glu)	ATRN (K690E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000307	NM_139321.3(ATRN):c.1984C>T (p.Pro662Ser)	ATRN (P546S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986292	NM_139321.3(ATRN):c.348C>T (p.Gly116=)	ATRN	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2986171	NM_139321.3(ATRN):c.2410A>G (p.Thr804Ala)	ATRN (T804A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984961	NM_139321.3(ATRN):c.1836C>T (p.Val612=)	ATRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984432	NM_139321.3(ATRN):c.4129C>G (p.Arg1377Gly)	ATRN (R1377G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980909	NM_139321.3(ATRN):c.4152T>C (p.Pro1384=)	ATRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980839	NM_139321.3(ATRN):c.1237T>C (p.Ser413Pro)	ATRN (S297P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979776	NM_139321.3(ATRN):c.1631+16T>C	ATRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979553	NM_139321.3(ATRN):c.1283A>G (p.Asn428Ser)	ATRN (N312S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970938	NM_139321.3(ATRN):c.3279A>C (p.Ile1093=)	ATRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970080	NM_139321.3(ATRN):c.1113-15_1113-14del	ATRN	Deletion (intron variant)	not provided	GUncertain significance
Select item 2960152	NM_139321.3(ATRN):c.884A>T (p.His295Leu)	ATRN (H179L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959668	NM_139321.3(ATRN):c.1063G>A (p.Val355Ile)	ATRN (V355I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957707	NM_139321.3(ATRN):c.4250G>A (p.Arg1417Gln)	ATRN (R1417Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956950	NM_139321.3(ATRN):c.4050+15C>A	ATRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909329	NM_139321.3(ATRN):c.3335A>G (p.Asn1112Ser)	ATRN (N996S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890673	NM_139321.3(ATRN):c.3726G>A (p.Lys1242=)	ATRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889885	NM_139321.3(ATRN):c.1631+3G>A	ATRN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2887938	NM_139321.3(ATRN):c.215TGC[8] (p.Leu77_Pro78insLeuLeu)	ATRN, LOC130065331	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2887851	NM_139321.3(ATRN):c.2951-6T>C	ATRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862935	NM_139321.3(ATRN):c.2342T>A (p.Ile781Asn)	ATRN (I665N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849984	NM_139321.3(ATRN):c.3417-3C>A	ATRN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2797450	NM_139321.3(ATRN):c.3417-8C>G	ATRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784893	NM_139321.3(ATRN):c.3121C>T (p.Leu1041=)	ATRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781269	NM_139321.3(ATRN):c.2765C>G (p.Ala922Gly)	ATRN (A806G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780764	NM_139321.3(ATRN):c.921C>T (p.Cys307=)	ATRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776866	NM_139321.3(ATRN):c.3136A>G (p.Met1046Val)	ATRN (M930V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752944	NM_139321.3(ATRN):c.2817T>C (p.Cys939=)	ATRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2742270	NM_139321.3(ATRN):c.3087G>A (p.Ser1029=)	ATRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723475	NM_139321.3(ATRN):c.384A>G (p.Gln128=)	ATRN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2707163	NM_139321.3(ATRN):c.4051-15G>C	ATRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2652174	NM_139321.3(ATRN):c.3561C>T (p.Asp1187=)	ATRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631059	NM_139321.3(ATRN):c.379G>T (p.Glu127Ter)	ATRN (E127*)	Single nucleotide variant (nonsense +1 more)	ATRN-related disorder	GUncertain significance
Select item 2629116	NM_139321.3(ATRN):c.491G>T (p.Gly164Val)	ATRN (G164V +1 more)	Single nucleotide variant (missense variant)	ATRN-related disorder +1 more	GUncertain significance
Select item 2621772	NM_139321.3(ATRN):c.14C>T (p.Ala5Val)	ATRN, LOC130065331 (R17W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620345	NM_139321.3(ATRN):c.4016A>G (p.Glu1339Gly)	ATRN (E1339G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614802	NM_139321.3(ATRN):c.4240G>T (p.Val1414Leu)	ATRN (V1414L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613360	NM_139321.3(ATRN):c.2099A>G (p.Asp700Gly)	ATRN (D700G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610186	NM_139321.3(ATRN):c.4091A>G (p.Asn1364Ser)	ATRN (N1364S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610185	NM_139321.3(ATRN):c.4090A>G (p.Asn1364Asp)	ATRN (N1364D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604862	NM_139321.3(ATRN):c.3049A>G (p.Ile1017Val)	ATRN (I1017V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601480	NM_139321.3(ATRN):c.2102A>G (p.His701Arg)	ATRN (H585R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595456	NM_139321.3(ATRN):c.1625A>G (p.Gln542Arg)	ATRN (Q426R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2571640	NM_139321.3(ATRN):c.396C>G (p.Cys132Trp)	ATRN (C132W)	Single nucleotide variant (missense variant +1 more)	Thrombocytopenia +2 more	GUncertain significance
Select item 2554658	NM_139321.3(ATRN):c.145C>T (p.Leu49Phe)	ATRN, LOC130065331 (L49F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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