84231[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 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	EEF2KMT, ELOB +917 more	Copy number gain	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 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	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 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 1696837	NC_000016.10:g.2047157_2220112del	BRICD5, CASKIN1 +28 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1696838	NC_000016.10:g.2066081_2241220del	BRICD5, CASKIN1 +33 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 495325	NC_000016.10:g.2077605_2284389dup	ABCA3, BRICD5 +44 more	Duplication	Endometrial carcinoma	GUncertain significance
Select item 1801084	NM_032271.3(TRAF7):c.1A>G (p.Met1Val)	TRAF7 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3251755	NM_032271.3(TRAF7):c.14A>G (p.Lys5Arg)	TRAF7 (K5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181797	NM_032271.3(TRAF7):c.15G>C (p.Lys5Asn)	TRAF7 (K5N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2371616	NM_032271.3(TRAF7):c.31C>T (p.Arg11Cys)	TRAF7 (R11C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3181801	NM_032271.3(TRAF7):c.32G>A (p.Arg11His)	TRAF7 (R11H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1723304	NM_032271.3(TRAF7):c.56T>C (p.Leu19Pro)	TRAF7 (L19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045378	NM_032271.3(TRAF7):c.64_75del (p.Pro22_Thr25del)	TRAF7	Deletion	not provided	GBenign
Select item 2581613	NM_032271.3(TRAF7):c.65C>A (p.Pro22Gln)	TRAF7 (P22Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736474	NM_032271.3(TRAF7):c.81+5_81+13del	TRAF7	Deletion (intron variant)	not provided	GBenign
Select item 2512027	NM_032271.3(TRAF7):c.109G>A (p.Ala37Thr)	TRAF7 (A37T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2324621	NM_032271.3(TRAF7):c.121G>A (p.Val41Ile)	TRAF7 (V41I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067281	NM_032271.3(TRAF7):c.135A>G (p.Thr45=)	TRAF7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602495	NM_032271.3(TRAF7):c.139+6C>T	TRAF7	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2388693	NM_032271.3(TRAF7):c.152G>A (p.Ser51Asn)	TRAF7 (S51N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1685183	NM_032271.3(TRAF7):c.159C>A (p.Tyr53Ter)	TRAF7 (Y53*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3242003	NM_032271.3(TRAF7):c.178C>T (p.Pro60Ser)	TRAF7 (P60S)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 2352785	NM_032271.3(TRAF7):c.200C>G (p.Ala67Gly)	TRAF7 (A67G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2328826	NM_032271.3(TRAF7):c.205T>C (p.Ser69Pro)	TRAF7 (S69P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3343160	NM_032271.3(TRAF7):c.236C>G (p.Pro79Arg)	TRAF7 (P79R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068783	NM_032271.3(TRAF7):c.244A>G (p.Thr82Ala)	TRAF7 (T82A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2442495	NM_032271.3(TRAF7):c.248C>T (p.Pro83Leu)	TRAF7 (P83L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3328439	NM_032271.3(TRAF7):c.256T>C (p.Ser86Pro)	TRAF7 (S86P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2646040	NM_032271.3(TRAF7):c.264C>T (p.Ser88=)	TRAF7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239493	NM_032271.3(TRAF7):c.268A>G (p.Ile90Val)	TRAF7 (I90V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481869	NM_032271.3(TRAF7):c.358G>A (p.Val120Met)	TRAF7 (V120M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365274	NM_032271.3(TRAF7):c.418G>A (p.Asp140Asn)	TRAF7 (D140N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646041	NM_032271.3(TRAF7):c.447G>A (p.Thr149=)	TRAF7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3048974	NM_032271.3(TRAF7):c.462C>T (p.Cys154=)	TRAF7	Single nucleotide variant (synonymous variant)	TRAF7-related disorder	GBenign
Select item 2646042	NM_032271.3(TRAF7):c.465C>T (p.Ala155=)	TRAF7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646043	NM_032271.3(TRAF7):c.468G>C (p.Leu156Phe)	TRAF7 (L156F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2278581	NM_032271.3(TRAF7):c.477G>C (p.Glu159Asp)	TRAF7 (E159D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585281	NM_032271.3(TRAF7):c.487G>A (p.Val163Met)	TRAF7 (V163M)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 2629255	NM_032271.3(TRAF7):c.511G>C (p.Val171Leu)	TRAF7 (V171L)	Single nucleotide variant (missense variant)	TRAF7-related disorder	GUncertain significance
Select item 2646044	NM_032271.3(TRAF7):c.546G>A (p.Gly182=)	TRAF7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2437224	NM_032271.3(TRAF7):c.584C>T (p.Ala195Val)	TRAF7 (A195V)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 2498641	NM_032271.3(TRAF7):c.591C>T (p.Ser197=)	TRAF7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646045	NM_032271.3(TRAF7):c.627G>A (p.Gly209=)	TRAF7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2630532	NM_032271.3(TRAF7):c.642C>G (p.Ile214Met)	TRAF7 (I214M)	Single nucleotide variant (missense variant)	TRAF7-related disorder	GUncertain significance
Select item 1700527	NM_032271.3(TRAF7):c.651C>G (p.Ser217Arg)	TRAF7 (S217R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2341862	NM_032271.3(TRAF7):c.652G>T (p.Ala218Ser)	TRAF7 (A218S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3250816	NM_032271.3(TRAF7):c.687G>A (p.Arg229=)	TRAF7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582097	NM_032271.3(TRAF7):c.687G>C (p.Arg229Ser)	TRAF7 (R229S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365224	NM_032271.3(TRAF7):c.718C>A (p.Pro240Thr)	TRAF7 (P240T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3181802	NM_032271.3(TRAF7):c.722C>T (p.Pro241Leu)	TRAF7 (P241L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3043714	NM_032271.3(TRAF7):c.723G>A (p.Pro241=)	TRAF7	Single nucleotide variant (synonymous variant)	TRAF7-related disorder	GLikely benign
Select item 3047155	NM_032271.3(TRAF7):c.727C>G (p.Leu243Val)	TRAF7 (L243V)	Single nucleotide variant (missense variant)	TRAF7-related disorder	GLikely benign
Select item 1810278	NM_032271.3(TRAF7):c.788A>C (p.Lys263Thr)	TRAF7 (K263T)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 774920	NM_032271.3(TRAF7):c.792C>T (p.Tyr264=)	TRAF7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2396851	NM_032271.3(TRAF7):c.800C>T (p.Thr267Met)	TRAF7 (T267M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042227	NM_032271.3(TRAF7):c.807C>T (p.Ile269=)	TRAF7	Single nucleotide variant (synonymous variant)	TRAF7-related disorder	GLikely benign
Select item 3046630	NM_032271.3(TRAF7):c.825C>T (p.Tyr275=)	TRAF7	Single nucleotide variant (synonymous variant)	TRAF7-related disorder	GLikely benign
Select item 2672608	NM_032271.3(TRAF7):c.835C>G (p.Leu279Val)	TRAF7 (L279V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2618819	NM_032271.3(TRAF7):c.842C>A (p.Thr281Asn)	TRAF7 (T281N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252598	NM_032271.3(TRAF7):c.880A>G (p.Thr294Ala)	TRAF7 (T294A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3181803	NM_032271.3(TRAF7):c.889C>T (p.Arg297Cys)	TRAF7 (R297C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2633150	NM_032271.3(TRAF7):c.897C>A (p.His299Gln)	TRAF7 (H299Q)	Single nucleotide variant (missense variant)	TRAF7-related disorder	GUncertain significance
Select item 3057662	NM_032271.3(TRAF7):c.918C>G (p.Ala306=)	TRAF7	Single nucleotide variant (synonymous variant)	TRAF7-related disorder	GLikely benign
Select item 3068405	NM_032271.3(TRAF7):c.943_944delinsGG (p.Leu315Gly)	TRAF7 (L315G)	Indel (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 2373988	NM_032271.3(TRAF7):c.946C>T (p.Arg316Cys)	TRAF7 (R316C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1176663	NM_032271.3(TRAF7):c.969G>A (p.Ser323=)	TRAF7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2255104	NM_032271.3(TRAF7):c.974A>G (p.Lys325Arg)	TRAF7 (K325R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879322	NM_032271.3(TRAF7):c.1013-5C>G	TRAF7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3346900	NM_032271.3(TRAF7):c.1013A>T (p.Asp338Val)	TRAF7 (D338V)	Single nucleotide variant (missense variant)	TRAF7-related disorder	GUncertain significance
Select item 1342342	NM_032271.3(TRAF7):c.1014C>T (p.Asp338=)	TRAF7	Single nucleotide variant (synonymous variant)	Cardiac, facial, and digital anomalies with developmental delay +1 more	GConflicting classifications of pathogenicity
Select item 587687	NM_032271.3(TRAF7):c.1036A>G (p.Lys346Glu)	TRAF7 (K346E)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GPathogenic
Select item 3365900	NM_032271.3(TRAF7):c.1037A>T (p.Lys346Met)	TRAF7 (K346M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700518	NM_032271.3(TRAF7):c.1061_1067delinsACCGGCC (p.Phe354_Arg356delinsTyrArgPro)	TRAF7	Indel (missense variant)	not provided	GUncertain significance
Select item 1030021	NM_032271.3(TRAF7):c.1063C>T (p.Arg355Trp)	TRAF7 (R355W)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 2255837	NM_032271.3(TRAF7):c.1072G>A (p.Ala358Thr)	TRAF7 (A358T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3033290	NM_032271.3(TRAF7):c.1089C>T (p.Asp363=)	TRAF7	Single nucleotide variant (synonymous variant)	TRAF7-related disorder	GLikely benign
Select item 1307013	NM_032271.3(TRAF7):c.1089C>A (p.Asp363Glu)	TRAF7 (D363E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380472	NM_032271.3(TRAF7):c.1111C>T (p.Arg371Trp)	TRAF7 (R371W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 587688	NM_032271.3(TRAF7):c.1111C>G (p.Arg371Gly)	TRAF7 (R371G)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GPathogenic
Select item 1707473	NM_032271.3(TRAF7):c.1112G>A (p.Arg371Gln)	TRAF7 (R371Q)	Single nucleotide variant (missense variant)	Cardiac, facial, and digital anomalies with developmental delay	GLikely pathogenic
Select item 2646046	NM_032271.3(TRAF7):c.1116G>C (p.Leu372=)	TRAF7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3328437	NM_032271.3(TRAF7):c.1121T>C (p.Met374Thr)	TRAF7 (M374T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2500518	NM_032271.3(TRAF7):c.1124G>A (p.Gly375Asp)	TRAF7 (G375D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1699445	NM_032271.3(TRAF7):c.1135+7A>G	TRAF7	Single nucleotide variant (intron variant)	Cardiac, facial, and digital anomalies with developmental delay	GUncertain significance
Select item 2570927	NM_032271.3(TRAF7):c.1135+18G>A	TRAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2646047	NM_032271.3(TRAF7):c.1135+40C>G	TRAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3253287	NM_032271.3(TRAF7):c.1148A>C (p.Gln383Pro)	TRAF7 (Q383P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327659	NM_032271.3(TRAF7):c.1204C>G (p.Leu402Val)	TRAF7 (L402V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2646048	NM_032271.3(TRAF7):c.1209C>T (p.Cys403=)	TRAF7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3253392	NM_032271.3(TRAF7):c.1210G>T (p.Val404Phe)	TRAF7 (V404F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365485	NM_032271.3(TRAF7):c.1229del (p.Leu410fs)	TRAF7 (L410fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 872319	NM_032271.3(TRAF7):c.1273A>T (p.Thr425Ser)	TRAF7 (T425S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1195332	NM_032271.3(TRAF7):c.1288A>G (p.Lys430Glu)	TRAF7 (K430E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2247252	NM_032271.3(TRAF7):c.1309G>A (p.Gly437Ser)	TRAF7 (G437S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3250867	NM_032271.3(TRAF7):c.1314T>C (p.His438=)	TRAF7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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