ClinVar for Gene (Select 4361) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3224879	NM_005591.4(MRE11):c.977C>G (p.Pro326Arg)	MRE11 (P326R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224878	NM_005591.4(MRE11):c.975T>C (p.Asn325=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224877	NM_005591.4(MRE11):c.957C>T (p.Asp319=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224875	NM_005591.4(MRE11):c.936T>C (p.Ile312=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224874	NM_005591.4(MRE11):c.928G>C (p.Glu310Gln)	MRE11 (E310Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224873	NM_005591.4(MRE11):c.927G>T (p.Met309Ile)	MRE11 (M309I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224872	NM_005591.4(MRE11):c.925A>G (p.Met309Val)	MRE11 (M309V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224871	NM_005591.4(MRE11):c.917A>G (p.Gln306Arg)	MRE11 (Q306R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224870	NM_005591.4(MRE11):c.86A>T (p.Asp29Val)	MRE11 (D29V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224869	NM_005591.4(MRE11):c.84A>C (p.Lys28Asn)	MRE11 (K28N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224868	NM_005591.4(MRE11):c.821T>A (p.Leu274His)	MRE11 (L274H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224867	NM_005591.4(MRE11):c.784T>A (p.Tyr262Asn)	MRE11 (Y262N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224866	NM_005591.4(MRE11):c.780G>A (p.Leu260=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224865	NM_005591.4(MRE11):c.76A>C (p.Met26Leu)	MRE11 (M26L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224864	NM_005591.4(MRE11):c.735T>C (p.His245=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224863	NM_005591.4(MRE11):c.668A>C (p.His223Pro)	MRE11 (H223P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224862	NM_005591.4(MRE11):c.584A>G (p.Asn195Ser)	MRE11 (N195S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224861	NM_005591.4(MRE11):c.562A>C (p.Arg188=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224859	NM_005591.4(MRE11):c.503T>C (p.Leu168Ser)	MRE11 (L168S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224858	NM_005591.4(MRE11):c.461G>C (p.Gly154Ala)	MRE11 (G154A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224857	NM_005591.4(MRE11):c.321A>T (p.Pro107=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224856	NM_005591.4(MRE11):c.268C>G (p.Gln90Glu)	MRE11 (Q90E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224854	NM_005591.4(MRE11):c.2102G>A (p.Ser701Asn)	MRE11 (S673N +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224853	NM_005591.4(MRE11):c.2044A>G (p.Lys682Glu)	MRE11 (K654E +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224852	NM_005591.4(MRE11):c.2016C>T (p.Ser672=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224851	NM_005591.4(MRE11):c.1929G>C (p.Val643=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224850	NM_005591.4(MRE11):c.1905C>T (p.Val635=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224849	NM_005591.4(MRE11):c.1891C>T (p.Pro631Ser)	MRE11 (P603S +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224848	NM_005591.4(MRE11):c.1877C>T (p.Ser626Phe)	MRE11 (S598F +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224847	NM_005591.4(MRE11):c.1858A>C (p.Ile620Leu)	MRE11 (I619L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224846	NM_005591.4(MRE11):c.1840G>C (p.Ala614Pro)	MRE11 (A613P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224845	NM_005591.4(MRE11):c.1816A>T (p.Arg606Trp)	MRE11 (R605W +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224844	NM_005591.4(MRE11):c.1813A>T (p.Ser605Cys)	MRE11 (S604C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224843	NM_005591.4(MRE11):c.180T>A (p.Asp60Glu)	MRE11 (D60E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224842	NM_005591.4(MRE11):c.1797G>A (p.Leu599=)	MRE11	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224841	NM_005591.4(MRE11):c.1767G>A (p.Gly589=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224840	NM_005591.4(MRE11):c.1740A>C (p.Arg580Ser)	MRE11 (R580S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224839	NM_005591.4(MRE11):c.1735G>C (p.Gly579Arg)	MRE11 (G579R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224837	NM_005591.4(MRE11):c.1717G>A (p.Gly573Arg)	MRE11 (G573R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224836	NM_005591.4(MRE11):c.1675G>A (p.Asp559Asn)	MRE11 (D559N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224835	NM_005591.4(MRE11):c.1635T>C (p.Leu545=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224834	NM_005591.4(MRE11):c.1635T>A (p.Leu545=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224833	NM_005591.4(MRE11):c.1633C>A (p.Leu545Ile)	MRE11 (L545I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224831	NM_005591.4(MRE11):c.1605G>T (p.Glu535Asp)	MRE11 (E535D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224830	NM_005591.4(MRE11):c.1581A>G (p.Arg527=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224829	NM_005591.4(MRE11):c.1571C>A (p.Thr524Asn)	MRE11 (T524N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224827	NM_005591.4(MRE11):c.1537A>G (p.Asn513Asp)	MRE11 (N513D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224826	NM_005591.4(MRE11):c.1532A>T (p.Asn511Ile)	MRE11 (N511I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224825	NM_005591.4(MRE11):c.1488A>T (p.Lys496Asn)	MRE11 (K496N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224824	NM_005591.4(MRE11):c.1409T>A (p.Ile470Asn)	MRE11 (I470N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224822	NM_005591.4(MRE11):c.1292A>C (p.Asp431Ala)	MRE11 (D431A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224821	NM_005591.3:c.1280_1281insALU	MRE11	Insertion	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3224820	NM_005591.4(MRE11):c.1234A>G (p.Ile412Val)	MRE11 (I412V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224818	NM_005591.4(MRE11):c.1196T>G (p.Phe399Cys)	MRE11 (F399C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224817	NM_005591.4(MRE11):c.1170T>C (p.Ala390=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3224816	NM_005591.4(MRE11):c.1102G>A (p.Asp368Asn)	MRE11 (D368N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224815	NM_005591.4(MRE11):c.1097G>C (p.Arg366Pro)	MRE11 (R366P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224814	NM_005591.4(MRE11):c.1080G>T (p.Lys360Asn)	MRE11 (K360N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224813	NM_005591.4(MRE11):c.1063T>G (p.Ser355Ala)	MRE11 (S355A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3224811	NM_005591.4(MRE11):c.1027A>G (p.Met343Val)	MRE11 (M343V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3204119	NM_005591.4(MRE11):c.726C>G (p.Ile242Met)	MRE11 (I242M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3126854	NM_017704.3(ANKRD49):c.460A>G (p.Thr154Ala)	ANKRD49, MRE11 (T154A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126853	NM_017704.3(ANKRD49):c.255T>A (p.Asn85Lys)	ANKRD49, MRE11 (N85K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063184	GRCh37/hg19 11q21(chr11:94130773-94280193)x1	ANKRD49, FUT4 +2 more	Copy number loss	not specified	GPathogenic
Select item 3022085	NM_005591.4(MRE11):c.1098+7C>T	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 3021080	NM_005591.4(MRE11):c.1363G>A (p.Gly455Ser)	MRE11 (G455S)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder	GUncertain significance
Select item 3018223	NM_005591.4(MRE11):c.1994+7G>T	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 3018141	NM_005591.4(MRE11):c.846-9C>T	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 3017743	NM_005591.4(MRE11):c.1995-25TGTTTT[4]	MRE11	Microsatellite (intron variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 3014081	NM_005591.4(MRE11):c.659+10T>C	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 3013723	NM_005591.4(MRE11):c.1863A>C (p.Ile621=)	MRE11	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3013425	NM_005591.4(MRE11):c.845+12A>G	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 3012128	NM_005591.4(MRE11):c.1327-11G>A	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 3011629	NM_005591.4(MRE11):c.1660A>G (p.Met554Val)	MRE11 (M554V)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder	GUncertain significance
Select item 3009950	NM_005591.4(MRE11):c.1926+14T>C	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 3008633	NM_005591.4(MRE11):c.659+10T>A	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 3006049	NM_005591.4(MRE11):c.576G>C (p.Met192Ile)	MRE11 (M192I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2999963	NM_005591.4(MRE11):c.696A>G (p.Gln232=)	MRE11	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 2990076	NM_005591.4(MRE11):c.1099-11T>C	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 2986634	NM_005591.4(MRE11):c.1226-17T>C	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 2985143	NM_005591.4(MRE11):c.659+7C>G	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 2984860	NM_005591.4(MRE11):c.2012C>G (p.Ser671Cys)	MRE11 (S670C +2 more)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder	GUncertain significance
Select item 2984561	NM_005591.4(MRE11):c.845+7_845+17dup	MRE11	Duplication (intron variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 2976135	NM_005591.4(MRE11):c.2070+13T>C	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 2970973	NM_005591.4(MRE11):c.368T>G (p.Phe123Cys)	MRE11 (F123C)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder	GUncertain significance
Select item 2968934	NM_005591.4(MRE11):c.1494T>C (p.Asp498=)	MRE11	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 2966929	NM_005591.4(MRE11):c.1101G>C (p.Val367=)	MRE11	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 2961662	NM_005591.4(MRE11):c.1106A>C (p.Tyr369Ser)	MRE11 (Y369S)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder	GUncertain significance
Select item 2960470	NM_005591.4(MRE11):c.659+18A>C	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 2920593	NM_005591.4(MRE11):c.2071-7A>G	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 2917828	NM_005591.4(MRE11):c.659+18A>T	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 2916948	NM_005591.4(MRE11):c.20+9C>T	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 2910591	NM_005591.4(MRE11):c.315-17A>G	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 2905056	NM_005591.4(MRE11):c.1371A>G (p.Ala457=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2903168	NM_005591.4(MRE11):c.1564-8C>T	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 2901843	NM_005591.4(MRE11):c.1563+18A>G	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 2899318	NM_005591.4(MRE11):c.1098+16A>G	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 2898799	NM_005591.4(MRE11):c.730G>A (p.Gly244Ser)	MRE11 (G244S)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder	GUncertain significance
Select item 2897237	NM_005591.4(MRE11):c.1868-4C>G	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder	GLikely benign
Select item 2891733	NM_005591.4(MRE11):c.153+5G>A	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder	GUncertain significance

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