VEZF1[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 146083	GRCh38/hg38 17q22(chr17:56683505-58084939)x1	AKAP1, AKAP1-DT +83 more	Copy number loss	See cases	GPathogenic
Select item 59591	GRCh38/hg38 17q22(chr17:56958745-58171125)x1	AKAP1, AKAP1-DT +76 more	Copy number loss	See cases	GPathogenic
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 2462992	NM_007146.3(VEZF1):c.1496A>G (p.Asn499Ser)	VEZF1 (N499S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396282	NM_007146.3(VEZF1):c.1472C>A (p.Pro491His)	VEZF1 (P482H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339218	NM_007146.3(VEZF1):c.1444A>G (p.Ile482Val)	VEZF1 (I473V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607406	NM_007146.3(VEZF1):c.1318A>G (p.Met440Val)	VEZF1 (M431V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376793	NM_007146.3(VEZF1):c.1312A>G (p.Ser438Gly)	VEZF1 (S429G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188464	NM_007146.3(VEZF1):c.1198C>T (p.Pro400Ser)	VEZF1 (P391S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325889	NM_007146.3(VEZF1):c.1196C>G (p.Thr399Ser)	VEZF1 (T390S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553322	NM_007146.3(VEZF1):c.1192A>G (p.Thr398Ala)	VEZF1 (T389A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348333	NM_007146.3(VEZF1):c.1189C>G (p.Leu397Val)	VEZF1 (L388V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188463	NM_007146.3(VEZF1):c.1144G>T (p.Ala382Ser)	VEZF1 (A382S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033431	NM_007146.3(VEZF1):c.1008GCA[16] (p.Gln354_His355insGlnGlnGln)	VEZF1	Microsatellite (inframe insertion)	VEZF1-related disorder	GLikely benign
Select item 1686373	NM_007146.3(VEZF1):c.1046_1047insGCAACAACA (p.Gln352_Gln354dup)	VEZF1	Microsatellite (inframe_insertion)	not specified	GBenign
Select item 728195	NM_007146.3(VEZF1):c.1047A>G (p.Gln349=)	VEZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3042684	NM_007146.3(VEZF1):c.1008GCA[10] (p.Gln352_Gln354del)	VEZF1	Microsatellite (inframe deletion)	VEZF1-related disorder	GLikely benign
Select item 2647952	NM_007146.3(VEZF1):c.1008GCA[8] (p.Gln350_Gln354del)	VEZF1	Microsatellite (inframe_deletion)	not provided +1 more	GLikely benign
Select item 1685205	NM_007146.3(VEZF1):c.1008GCA[9] (p.Gln351_Gln354del)	VEZF1	Microsatellite (inframe_deletion)	not specified	GUncertain significance
Select item 3056872	NM_007146.3(VEZF1):c.1044del (p.Gln348fs)	VEZF1 (Q339fs +1 more)	Deletion (frameshift variant)	VEZF1-related disorder	GLikely benign
Select item 3056939	NM_007146.3(VEZF1):c.1041_1042del (p.Gln348fs)	VEZF1 (Q339fs +1 more)	Deletion (frameshift variant)	VEZF1-related disorder	GLikely benign
Select item 2647953	NM_007146.3(VEZF1):c.1041G>A (p.Gln347=)	VEZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2255354	NM_007146.3(VEZF1):c.689A>G (p.Lys230Arg)	VEZF1 (K221R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466583	NM_007146.3(VEZF1):c.686C>G (p.Thr229Ser)	VEZF1 (T220S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2633243	NM_007146.3(VEZF1):c.671A>C (p.His224Pro)	VEZF1 (H215P +1 more)	Single nucleotide variant (missense variant)	VEZF1-related disorder	GUncertain significance
Select item 2443871	NM_007146.3(VEZF1):c.490A>T (p.Lys164Ter)	VEZF1 (K164* +1 more)	Single nucleotide variant (nonsense)	Cardiomyopathy, dilated, 100	GPathogenic
Select item 2367797	NM_007146.3(VEZF1):c.472C>A (p.Pro158Thr)	VEZF1 (P149T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188466	NM_007146.3(VEZF1):c.434G>A (p.Gly145Asp)	VEZF1 (G136D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188465	NM_007146.3(VEZF1):c.214A>G (p.Thr72Ala)	VEZF1 (T72A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473268	NM_007146.3(VEZF1):c.134C>A (p.Pro45Gln)	VEZF1 (P36Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332031	NM_007146.3(VEZF1):c.110C>A (p.Pro37His)	VEZF1 (P28H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487433	NM_007146.3(VEZF1):c.19G>A (p.Ala7Thr)	LOC130061261, VEZF1 (A7T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2429783	NC_000017.10:g.(?_55806534)_(56540597_?)del	OR4D2, SUPT4H1 +14 more	Deletion	Neurodevelopmental delay +1 more	GPathogenic
Select item 2429780	NC_000017.10:g.(?_55442363)_(56309063_?)del	MRPS23, MSI2 +9 more	Deletion	Neurodevelopmental delay +1 more	GPathogenic
Select item 1710927	GRCh37/hg19 17q22(chr17:55043662-56728123)x1	LPO, MKS1 +21 more	Copy number loss	See cases	GPathogenic
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1328440	GRCh37/hg19 17q22(chr17:55840956-56090386)x1	CUEDC1, MRPS23 +2 more	Copy number loss	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 253345	GRCh37/hg19 17q22(chr17:55916829-56770618)x1	MKS1, DYNLL2 +19 more	Copy number loss	See cases	GLikely pathogenic

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Items: 45