12033[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR493, MIR494 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056480, LOC130056481 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	IGHV1-46, IGHV1-58 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	MIR6765, MIR8071-1 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	ADSS1, AHNAK2 +416 more	Copy number loss	See cases	GPathogenic
Select item 57839	GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1	LOC105378183, LOC112163684 +164 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	ADSS1, AHNAK2 +397 more	Copy number loss	See cases	GPathogenic
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	LOC130056644, LOC130056645 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2429110	NC_000014.9:g.102573453_103575949del	AMN, BAG5 +87 more	Deletion	Mitochondrial complex 4 deficiency, nuclear type 17	GPathogenic
Select item 57840	GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1	ADSS1, AKT1 +177 more	Copy number loss	See cases	GPathogenic
Select item 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	ADSS1, AHNAK2 +367 more	Copy number loss	See cases	GPathogenic
Select item 540505	NC_000014.8:g.(?_103336519)_(103397037_?)dup	AMN, LOC126862065 +6 more	Duplication	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 532214	NC_000014.9:g.(?_102870182)_(102930700_?)del	AMN, LOC126862065 +6 more	Deletion	Imerslund-Grasbeck syndrome	GPathogenic
Select item 3018133	NM_145725.3(TRAF3):c.7T>C (p.Ser3Pro)	TRAF3 (S3P)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 1151848	NM_145725.3(TRAF3):c.9G>C (p.Ser3=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 1055198	NM_145725.3(TRAF3):c.16A>G (p.Lys6Glu)	TRAF3 (K6E)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2781651	NM_145725.3(TRAF3):c.25T>A (p.Ser9Thr)	TRAF3 (S9T)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2973055	NM_145725.3(TRAF3):c.28C>T (p.Pro10Ser)	TRAF3 (P10S)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 1431495	NM_145725.3(TRAF3):c.28C>A (p.Pro10Thr)	TRAF3 (P10T)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2100517	NM_145725.3(TRAF3):c.29C>T (p.Pro10Leu)	TRAF3 (P10L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 852804	NM_145725.3(TRAF3):c.34G>A (p.Ala12Thr)	TRAF3 (A12T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1007820	NM_145725.3(TRAF3):c.35C>T (p.Ala12Val)	TRAF3 (A12V)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 723895	NM_145725.3(TRAF3):c.36G>A (p.Ala12=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 837604	NM_145725.3(TRAF3):c.42G>C (p.Gln14His)	TRAF3 (Q14H)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 3013123	NM_145725.3(TRAF3):c.50C>T (p.Pro17Leu)	TRAF3 (P17L)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 1080373	NM_145725.3(TRAF3):c.51G>A (p.Pro17=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 3328410	NM_145725.3(TRAF3):c.53C>T (p.Pro18Leu)	TRAF3 (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 487799	NM_145725.3(TRAF3):c.53C>G (p.Pro18Arg)	TRAF3 (P18R)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 2055042	NM_145725.3(TRAF3):c.54G>A (p.Pro18=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 1550503	NM_145725.3(TRAF3):c.57A>G (p.Leu19=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2878599	NM_145725.3(TRAF3):c.67A>G (p.Thr23Ala)	TRAF3 (T23A)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 1045822	NM_145725.3(TRAF3):c.73C>T (p.Arg25Cys)	TRAF3 (R25C)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 863160	NM_145725.3(TRAF3):c.74G>T (p.Arg25Leu)	TRAF3 (R25L)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 853591	NM_145725.3(TRAF3):c.74G>A (p.Arg25His)	TRAF3 (R25H)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3 +1 more	GUncertain significance
Select item 2595924	NM_145725.3(TRAF3):c.76A>C (p.Ser26Arg)	TRAF3 (S26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2197071	NM_145725.3(TRAF3):c.79G>C (p.Ala27Pro)	TRAF3 (A27P)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 1501789	NM_145725.3(TRAF3):c.86C>T (p.Thr29Met)	TRAF3 (T29M)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2860413	NM_145725.3(TRAF3):c.87G>A (p.Thr29=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2957783	NM_145725.3(TRAF3):c.90A>G (p.Pro30=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2897380	NM_145725.3(TRAF3):c.111A>G (p.Gly37=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 1404622	NM_145725.3(TRAF3):c.118A>G (p.Lys40Glu)	TRAF3 (K40E)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2416215	NM_145725.3(TRAF3):c.124A>G (p.Lys42Glu)	TRAF3 (K42E)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2608153	NM_145725.3(TRAF3):c.126G>C (p.Lys42Asn)	TRAF3 (K42N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3016347	NM_145725.3(TRAF3):c.138C>A (p.Thr46=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 1613328	NM_145725.3(TRAF3):c.138C>G (p.Thr46=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 1558080	NM_145725.3(TRAF3):c.138C>T (p.Thr46=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 1060945	NM_145725.3(TRAF3):c.139G>A (p.Val47Met)	TRAF3 (V47M)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 1112656	NM_145725.3(TRAF3):c.153C>T (p.Tyr51=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 1392102	NM_145725.3(TRAF3):c.156G>T (p.Lys52Asn)	TRAF3 (K52N)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 540502	NM_145725.3(TRAF3):c.165G>A (p.Lys55=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 1393059	NM_145725.3(TRAF3):c.185G>A (p.Ser62Asn)	TRAF3 (S62N)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 939401	NM_145725.3(TRAF3):c.188C>T (p.Pro63Leu)	TRAF3 (P63L)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 473289	NM_145725.3(TRAF3):c.189G>A (p.Pro63=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3 +1 more	GBenign
Select item 1092574	NM_145725.3(TRAF3):c.198C>G (p.Thr66=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 581158	NM_145725.3(TRAF3):c.199G>A (p.Glu67Lys)	TRAF3 (E67K)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 1638369	NM_145725.3(TRAF3):c.210C>T (p.His70=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 1523878	NM_145725.3(TRAF3):c.212G>A (p.Arg71His)	TRAF3 (R71H)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 1384436	NM_145725.3(TRAF3):c.219C>T (p.Cys73=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 1422123	NM_145725.3(TRAF3):c.233C>T (p.Ala78Val)	TRAF3 (A78V)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 850227	NM_145725.3(TRAF3):c.245+6C>T	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 1644751	NM_145725.3(TRAF3):c.245+7G>A	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 473290	NM_145725.3(TRAF3):c.245+10_245+21del	TRAF3	Deletion (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GBenign
Select item 2050113	NM_145725.3(TRAF3):c.245+11T>A	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 1661768	NM_145725.3(TRAF3):c.245+22_245+33del	TRAF3	Deletion (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 1555916	NM_145725.3(TRAF3):c.245+12C>T	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2912816	NM_145725.3(TRAF3):c.245+14C>T	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 1170641	NM_145725.3(TRAF3):c.245+16C>T	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GBenign
Select item 2990860	NM_145725.3(TRAF3):c.245+17G>T	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2982055	NM_145725.3(TRAF3):c.245+17G>A	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 1596365	NM_145725.3(TRAF3):c.245+19C>T	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GBenign
Select item 2688345	NM_145725.3(TRAF3):c.245+21C>T	TRAF3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2166458	NM_145725.3(TRAF3):c.246-18A>G	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 1565558	NM_145725.3(TRAF3):c.246-17C>T	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2118842	NM_145725.3(TRAF3):c.246-12_246-11del	TRAF3	Microsatellite (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 1921836	NM_145725.3(TRAF3):c.246-14G>T	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2058977	NM_145725.3(TRAF3):c.246C>G (p.Ser82Arg)	TRAF3 (S82R)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2911322	NM_145725.3(TRAF3):c.253A>G (p.Ser85Gly)	TRAF3 (S85G)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 1434573	NM_145725.3(TRAF3):c.260A>C (p.Lys87Thr)	TRAF3 (K87T)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 1111548	NM_145725.3(TRAF3):c.267A>C (p.Thr89=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 933725	NM_145725.3(TRAF3):c.269C>T (p.Ala90Val)	TRAF3 (A90V)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3 +1 more	GUncertain significance
Select item 766042	NM_145725.3(TRAF3):c.270G>A (p.Ala90=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 765689	NM_145725.3(TRAF3):c.270G>T (p.Ala90=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 1540512	NM_145725.3(TRAF3):c.285C>T (p.Ile95=)	TRAF3	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 2113539	NM_145725.3(TRAF3):c.295A>G (p.Lys99Glu)	TRAF3 (K99E)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 665708	NM_145725.3(TRAF3):c.297+6del	TRAF3	Deletion (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 1598312	NM_145725.3(TRAF3):c.297+10G>A	TRAF3	Single nucleotide variant (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GLikely benign
Select item 3015975	NM_145725.3(TRAF3):c.297+19dup	TRAF3	Duplication (intron variant)	Herpes simplex encephalitis, susceptibility to, 3	GBenign

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