21169[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 148917	GRCh38/hg38 16p13.3(chr16:46766-882211)x1	NHLRC4, NME4 +119 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 152879	GRCh38/hg38 16p13.3(chr16:59980-1221651)x1	ANTKMT, ARHGDIG +130 more	Copy number loss	See cases	GPathogenic
Select item 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	See cases	GPathogenic
Select item 150513	GRCh38/hg38 16p13.3(chr16:412341-925326)x3	ANTKMT, CAPN15 +76 more	Copy number gain	See cases	GUncertain significance
Select item 151645	GRCh38/hg38 16p13.3(chr16:534395-722554)x3	ANTKMT, CAPN15 +47 more	Copy number gain	See cases	GBenign
Select item 145938	GRCh38/hg38 16p13.3(chr16:551385-722554)x3	ANTKMT, CAPN15 +45 more	Copy number gain	See cases	GLikely benign
Select item 151633	GRCh38/hg38 16p13.3(chr16:636673-786508)x3	ANTKMT, CCDC78 +40 more	Copy number gain	See cases	GBenign
Select item 145245	GRCh38/hg38 16p13.3(chr16:636673-722554)x1	ANTKMT, FBXL16 +26 more	Copy number loss	See cases	GBenign
Select item 145243	GRCh38/hg38 16p13.3(chr16:636673-722554)x3	LOC130058119, LOC130058120 +26 more	Copy number gain	See cases	GBenign
Select item 152593	GRCh38/hg38 16p13.3(chr16:650260-722554)x1	ANTKMT, FBXL16 +18 more	Copy number loss	See cases	GBenign
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 3154108	NM_138769.3(RHOT2):c.44T>G (p.Val15Gly)	RHOT2 (V15G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2538007	NM_138769.3(RHOT2):c.74T>G (p.Val25Gly)	RHOT2 (V25G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3154099	NM_138769.3(RHOT2):c.118A>T (p.Ile40Phe)	RHOT2 (I40F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2522542	NM_138769.3(RHOT2):c.151G>A (p.Val51Met)	LOC130058118, RHOT2 (V51M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2366047	NM_138769.3(RHOT2):c.206G>A (p.Arg69Gln)	RHOT2 (R69Q)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2243051	NM_138769.3(RHOT2):c.211G>A (p.Glu71Lys)	RHOT2 (E71K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3154104	NM_138769.3(RHOT2):c.239T>C (p.Val80Ala)	RHOT2 (V80A)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3154105	NM_138769.3(RHOT2):c.263C>T (p.Ala88Val)	RHOT2 (A88V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 777019	NM_138769.3(RHOT2):c.276+6C>T	RHOT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2292343	NM_138769.3(RHOT2):c.280C>G (p.Arg94Gly)	RHOT2 (R94G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2520126	NM_138769.3(RHOT2):c.283A>G (p.Thr95Ala)	RHOT2 (T95A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3154106	NM_138769.3(RHOT2):c.319C>G (p.Gln107Glu)	RHOT2 (Q107E +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2320230	NM_138769.3(RHOT2):c.334C>T (p.Pro112Ser)	RHOT2 (P112S +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2518347	NM_138769.3(RHOT2):c.340A>C (p.Ile114Leu)	RHOT2 (I114L +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2266831	NM_138769.3(RHOT2):c.374G>A (p.Gly125Glu)	RHOT2 (G18E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3154107	NM_138769.3(RHOT2):c.422T>C (p.Ile141Thr)	RHOT2 (I141T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2312181	NM_138769.3(RHOT2):c.431G>A (p.Cys144Tyr)	RHOT2 (C17Y +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362949	NM_138769.3(RHOT2):c.443C>T (p.Ser148Leu)	RHOT2 (S21L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2600191	NM_138769.3(RHOT2):c.463A>G (p.Ile155Val)	RHOT2 (I137V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3154109	NM_138769.3(RHOT2):c.496G>A (p.Val166Ile)	RHOT2 (V148I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467918	NM_138769.3(RHOT2):c.500T>G (p.Leu167Arg)	RHOT2 (L149R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 776951	NM_138769.3(RHOT2):c.549C>T (p.Pro183=)	RHOT2	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 2254706	NM_138769.3(RHOT2):c.551C>T (p.Ala184Val)	RHOT2 (A77V +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2411649	NM_138769.3(RHOT2):c.556G>A (p.Ala186Thr)	RHOT2 (A59T +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2478933	NM_138769.3(RHOT2):c.557C>T (p.Ala186Val)	RHOT2 (A186V +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3154110	NM_138769.3(RHOT2):c.611T>C (p.Leu204Pro)	RHOT2 (L186P +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2213730	NM_138769.3(RHOT2):c.619G>A (p.Glu207Lys)	RHOT2 (E189K +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3154111	NM_138769.3(RHOT2):c.671A>G (p.Gln224Arg)	RHOT2 (Q191R +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463702	NM_138769.3(RHOT2):c.725G>A (p.Arg242Gln)	RHOT2 (R102Q +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3154112	NM_138769.3(RHOT2):c.731A>G (p.Asp244Gly)	RHOT2 (D104G +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2268645	NM_138769.3(RHOT2):c.766A>G (p.Thr256Ala)	RHOT2 (T238A +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776952	NM_138769.3(RHOT2):c.852G>A (p.Ala284=)	RHOT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 723601	NM_138769.3(RHOT2):c.861C>A (p.Leu287=)	RHOT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2317692	NM_138769.3(RHOT2):c.866C>T (p.Pro289Leu)	RHOT2 (P130L +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154114	NM_138769.3(RHOT2):c.926T>G (p.Val309Gly)	RHOT2 (V150G +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540211	NM_138769.3(RHOT2):c.949G>A (p.Asp317Asn)	RHOT2 (D158N +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213713	NM_138769.3(RHOT2):c.959G>A (p.Arg320His)	RHOT2 (R214H +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3154115	NM_138769.3(RHOT2):c.979G>A (p.Val327Met)	RHOT2 (V188M +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2603529	NM_138769.3(RHOT2):c.1046T>G (p.Val349Gly)	RHOT2 (V190G +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511702	NM_138769.3(RHOT2):c.1049G>A (p.Arg350His)	RHOT2 (R191H +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 723693	NM_138769.3(RHOT2):c.1137C>T (p.His379=)	RHOT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2555190	NM_138769.3(RHOT2):c.1228G>A (p.Gly410Arg)	RHOT2 (G270R +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357019	NM_138769.3(RHOT2):c.1240C>T (p.Arg414Trp)	RHOT2 (R193W +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261471	NM_138769.3(RHOT2):c.1315C>T (p.Arg439Cys)	RHOT2 (R218C +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619443	NM_138769.3(RHOT2):c.1316G>T (p.Arg439Leu)	RHOT2 (R218L +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363111	NM_138769.3(RHOT2):c.1318G>A (p.Gly440Ser)	RHOT2 (G281S +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2389635	NM_138769.3(RHOT2):c.1360G>A (p.Ala454Thr)	RHOT2 (A233T +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3154100	NM_138769.3(RHOT2):c.1370C>T (p.Thr457Met)	RHOT2 (T236M +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609612	NM_138769.3(RHOT2):c.1424A>G (p.Asp475Gly)	RHOT2 (D348G +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479036	NM_138769.3(RHOT2):c.1450G>A (p.Ala484Thr)	RHOT2 (A263T +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307862	NM_138769.3(RHOT2):c.1508A>G (p.His503Arg)	RHOT2 (H344R +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226877	NM_138769.3(RHOT2):c.1526A>C (p.Lys509Thr)	RHOT2 (K350T +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476922	NM_138769.3(RHOT2):c.1550C>A (p.Thr517Asn)	RHOT2 (T358N +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776953	NM_138769.3(RHOT2):c.1597G>A (p.Ala533Thr)	RHOT2 (A312T +12 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 711161	NM_138769.3(RHOT2):c.1617G>A (p.Pro539=)	RHOT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 781317	NM_138769.3(RHOT2):c.1621G>A (p.Glu541Lys)	RHOT2 (E401K +12 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3154101	NM_138769.3(RHOT2):c.1639C>T (p.Arg547Trp)	RHOT2 (R326W +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386996	NM_138769.3(RHOT2):c.1681G>A (p.Glu561Lys)	RHOT2 (E402K +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645843	NM_138769.3(RHOT2):c.1710C>T (p.Leu570=)	RHOT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2294204	NM_138769.3(RHOT2):c.1711G>A (p.Ala571Thr)	RHOT2 (A520T +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491352	NM_138769.3(RHOT2):c.1737G>T (p.Leu579Phe)	RHOT2 (L358F +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380767	NM_138769.3(RHOT2):c.1741C>T (p.His581Tyr)	RHOT2 (H360Y +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154102	NM_138769.3(RHOT2):c.1778G>T (p.Gly593Val)	RHOT2 (G466V +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3154103	NM_138769.3(RHOT2):c.1792G>C (p.Val598Leu)	RHOT2 (V439L +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
Select item 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	UNKL, UQCC4 +64 more	Deletion	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	ANTKMT, ARHGDIG +67 more	Deletion	not provided	GUncertain significance
Select item 2425969	NC_000016.9:g.(?_256302)_(1657267_?)del	ANTKMT, ARHGDIG +55 more	Deletion	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	PRSS21, PRSS22 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 1808731	GRCh37/hg19 16p13.3(chr16:85881-1350186)x1	ANTKMT, ARHGDIG +53 more	Copy number loss	not provided	GPathogenic
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526481	GRCh37/hg19 16p13.3(chr16:85880-1468828)	ANTKMT, MRPL28 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526480	GRCh37/hg19 16p13.3(chr16:85880-754083)	WDR90, WFIKKN1 +34 more	Copy number loss	not specified	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	EME2, FAHD1 +71 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	ABCA3, ANTKMT +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 832709	NC_000016.9:g.(?_624055)_(2148005_?)del	ANTKMT, BAIAP3 +71 more	Deletion	Tuberous sclerosis 2	GPathogenic

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