7424[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	MTNR1A, NAF1 +535 more	Copy number gain	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993482, LOC129993483 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	LOC129993424, LOC129993425 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	MIR4455, MIR548T +466 more	Copy number loss	See cases	GPathogenic
Select item 153168	GRCh38/hg38 4q32.3-34.3(chr4:166630207-179820960)	AADAT, ADAM29 +178 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993469, LOC129993470 +455 more	Copy number loss	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	LOC129993480, LOC129993481 +451 more	Copy number gain	See cases	GPathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +386 more	Copy number loss	See cases	GPathogenic
Select item 151692	GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	AADAT, ACSL1 +399 more	Copy number loss	See cases	GPathogenic
Select item 149543	GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	SAP30-DT, SCRG1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LOC126807230, LOC126807231 +383 more	Copy number loss	See cases	GPathogenic
Select item 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	UFSP2, VEGFC +375 more	Copy number loss	See cases	GPathogenic
Select item 59508	GRCh38/hg38 4q34.1-34.3(chr4:171851295-178772816)x1	ADAM29, AGA +85 more	Copy number loss	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	MIR4455, MIR548T +369 more	Copy number gain	See cases	GPathogenic
Select item 59510	GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	ACSL1, ADAM29 +369 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	ACSL1, ADAM29 +372 more	Copy number loss	See cases	GPathogenic
Select item 57133	GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1	ACSL1, ADAM29 +322 more	Copy number loss	See cases	GPathogenic
Select item 59511	GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 146879	GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 152991	GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1	FLJ38576, FRG1 +339 more	Copy number loss	See cases	GPathogenic
Select item 59512	GRCh38/hg38 4q34.1-35.1(chr4:174080892-183195538)x1	ADAM29, AGA +103 more	Copy number loss	See cases	GPathogenic
Select item 59513	GRCh38/hg38 4q34.1-34.3(chr4:175013055-181652375)x1	AGA, AGA-DT +59 more	Copy number loss	See cases	GPathogenic
Select item 57505	GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1	ACSL1, AGA +324 more	Copy number loss	See cases	GPathogenic
Select item 3040254	NM_005429.5(VEGFC):c.1167G>A (p.Thr389=)	HAFML, VEGFC	Single nucleotide variant (synonymous variant)	VEGFC-related disorder	GLikely benign
Select item 3353786	NM_005429.5(VEGFC):c.1157G>A (p.Arg386Gln)	HAFML, VEGFC (R386Q)	Single nucleotide variant (missense variant)	VEGFC-related disorder	GUncertain significance
Select item 1509251	NM_005429.5(VEGFC):c.1156C>T (p.Arg386Trp)	HAFML, VEGFC (R386W)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1287592	NM_005429.5(VEGFC):c.1145+277A>T	HAFML, VEGFC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1686363	NM_005429.5(VEGFC):c.1123A>C (p.Lys375Gln)	HAFML, VEGFC (K375Q)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3188443	NM_005429.5(VEGFC):c.1064C>G (p.Pro355Arg)	HAFML, VEGFC (P355R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398877	NM_005429.5(VEGFC):c.992A>C (p.Asn331Thr)	HAFML, VEGFC (N331T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483702	NM_005429.5(VEGFC):c.981A>C (p.Gln327His)	HAFML, VEGFC (Q327H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1686365	NM_005429.5(VEGFC):c.974C>T (p.Pro325Leu)	HAFML, VEGFC (P325L)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2345675	NM_005429.5(VEGFC):c.952G>T (p.Val318Phe)	HAFML, VEGFC (V318F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2629790	NM_005429.5(VEGFC):c.913G>T (p.Gly305Ter)	HAFML, VEGFC (G305*)	Single nucleotide variant (nonsense)	VEGFC-related disorder	GUncertain significance
Select item 3331999	NM_005429.5(VEGFC):c.898C>T (p.Arg300Trp)	HAFML, VEGFC (R300W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310267	NM_005429.5(VEGFC):c.880G>T (p.Val294Phe)	HAFML, VEGFC (V294F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213177	NM_005429.5(VEGFC):c.860A>G (p.Asp287Gly)	HAFML, VEGFC (D287G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1231039	NM_005429.5(VEGFC):c.812-101A>G	HAFML, VEGFC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291631	NM_005429.5(VEGFC):c.811+100T>G	HAFML, VEGFC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1686366	NM_005429.5(VEGFC):c.805G>A (p.Gly269Arg)	HAFML, VEGFC (G269R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1806219	NM_005429.5(VEGFC):c.781G>A (p.Asp261Asn)	VEGFC, HAFML (D261N)	Single nucleotide variant (missense variant)	Lymphatic malformation 4	GLikely benign
Select item 3188451	NM_005429.5(VEGFC):c.715G>A (p.Ala239Thr)	HAFML, VEGFC (A239T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1250186	NM_005429.5(VEGFC):c.705-122C>T	HAFML, VEGFC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273980	NM_005429.5(VEGFC):c.705-178G>A	HAFML, VEGFC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291748	NM_005429.5(VEGFC):c.705-183G>A	HAFML, VEGFC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3188450	NM_005429.5(VEGFC):c.659A>G (p.Gln220Arg)	VEGFC (Q220R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188449	NM_005429.5(VEGFC):c.644T>A (p.Leu215Gln)	VEGFC (L215Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1686367	NM_005429.5(VEGFC):c.629G>A (p.Arg210Gln)	VEGFC (R210Q)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 140737	NM_005429.5(VEGFC):c.628C>T (p.Arg210Ter)	VEGFC (R210*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3188448	NM_005429.5(VEGFC):c.605G>A (p.Ser202Asn)	VEGFC (S202N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1686368	NM_005429.5(VEGFC):c.572C>G (p.Pro191Arg)	VEGFC (P191R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 140736	NM_005429.5(VEGFC):c.571_572insTT (p.Pro191fs)	VEGFC (P191fs)	Insertion (frameshift variant)	Lymphatic malformation 4	GPathogenic
Select item 1686369	NM_005429.5(VEGFC):c.571C>G (p.Pro191Ala)	VEGFC (P191A)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2215187	NM_005429.5(VEGFC):c.558T>G (p.Phe186Leu)	VEGFC (F186L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1686370	NM_005429.5(VEGFC):c.553-15G>T	VEGFC	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1178259	NM_005429.5(VEGFC):c.552+268G>A	VEGFC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282366	NM_005429.5(VEGFC):c.552+119_552+120insTT	VEGFC	Insertion (intron variant)	not provided	GBenign
Select item 1010318	NM_005429.5(VEGFC):c.524A>T (p.Asn175Ile)	VEGFC (N175I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3049599	NM_005429.5(VEGFC):c.501T>C (p.Asn167=)	VEGFC	Single nucleotide variant (synonymous variant)	VEGFC-related disorder	GLikely benign
Select item 3034798	NM_005429.5(VEGFC):c.495C>T (p.Cys165=)	VEGFC	Single nucleotide variant (synonymous variant)	VEGFC-related disorder	GLikely benign
Select item 392821	NM_005429.5(VEGFC):c.375G>C (p.Glu125Asp)	VEGFC (E125D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993883	NM_005429.5(VEGFC):c.364A>G (p.Ile122Val)	VEGFC (I122V)	Single nucleotide variant (missense variant)	Lymphatic malformation 4 +1 more	GBenign
Select item 392820	NM_005429.5(VEGFC):c.362-2A>T	VEGFC	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1230322	NM_005429.5(VEGFC):c.361+70dup	VEGFC	Duplication (intron variant)	not provided	GBenign
Select item 2257978	NM_005429.5(VEGFC):c.334G>A (p.Ala112Thr)	VEGFC (A112T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188447	NM_005429.5(VEGFC):c.313G>C (p.Glu105Gln)	VEGFC (E105Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188446	NM_005429.5(VEGFC):c.199G>A (p.Asp67Asn)	VEGFC (D67N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188445	NM_005429.5(VEGFC):c.193A>G (p.Ser65Gly)	VEGFC (S65G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 994064	NM_005429.5(VEGFC):c.182G>A (p.Arg61Gln)	VEGFC (R61Q)	Single nucleotide variant (missense variant)	Lymphatic malformation 4	GBenign
Select item 1686371	NM_005429.5(VEGFC):c.172G>A (p.Glu58Lys)	VEGFC (E58K)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3036644	NM_005429.5(VEGFC):c.148-9C>T	VEGFC	Single nucleotide variant (intron variant)	VEGFC-related disorder	GLikely benign
Select item 3043806	NM_005429.5(VEGFC):c.148-10T>C	VEGFC	Single nucleotide variant (intron variant)	VEGFC-related disorder	GLikely benign
Select item 155559	GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1	ACSL1, AGA +293 more	Copy number loss	See cases	GLikely pathogenic
Select item 1330598	NM_005429.5(VEGFC):c.140A>T (p.Glu47Val)	VEGFC (E47V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3332000	NM_005429.5(VEGFC):c.121G>C (p.Ala41Pro)	VEGFC (A41P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1686372	NM_005429.5(VEGFC):c.79GCC[6] (p.Ala31dup)	VEGFC	Microsatellite (inframe_insertion)	not specified	GBenign
Select item 3037341	NM_005429.5(VEGFC):c.79GCC[4] (p.Ala31del)	VEGFC (A31del)	Microsatellite	VEGFC-related disorder	GLikely benign
Select item 3253250	NM_005429.5(VEGFC):c.61G>C (p.Gly21Arg)	VEGFC (G21R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2456172	NM_005429.5(VEGFC):c.59C>T (p.Pro20Leu)	VEGFC (P20L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 775220	NM_005429.5(VEGFC):c.36T>A (p.Ser12=)	VEGFC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3188444	NM_005429.5(VEGFC):c.17T>G (p.Phe6Cys)	VEGFC (F6C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148912	GRCh37/hg19 4q34.1-34.3(chr4:172781617-182798652)x3	ADAM29, AGA +17 more	Copy number gain	not provided	GPathogenic
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062775	GRCh37/hg19 4q34.1-35.1(chr4:175496275-186495932)x1	ACSL1, ADAM29 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	ENPP6, F11 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685134	GRCh37/hg19 4q33-35.1(chr4:171476330-184998011)x1	GLRA3, GPM6A +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684399	GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	AADAT, ACSL1 +69 more	Copy number gain	not provided	GPathogenic
Select item 1711166	GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1	AADAT, ACSL1 +69 more	Copy number loss	See cases	GPathogenic
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	CYP4V2, HAND2 +93 more	Copy number loss	See cases	GPathogenic

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