ClinVar for Gene (Select 1857) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360193	NM_004423.4(DVL3):c.1751A>G (p.Asp584Gly)	DVL3 (D584G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3345423	NM_004423.4(DVL3):c.596G>A (p.Ser199Asn)	DVL3 (S199N)	Single nucleotide variant (missense variant)	DVL3-related disorder	GUncertain significance
Select item 3338369	NM_004423.4(DVL3):c.1947_1950del (p.His650fs)	DVL3 (H650fs)	Microsatellite (frameshift variant)	Autosomal dominant Robinow syndrome 3	GUncertain significance
Select item 3274127	NM_004423.4(DVL3):c.2027T>C (p.Met676Thr)	DVL3 (M676T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274125	NM_004423.4(DVL3):c.1104G>A (p.Met368Ile)	DVL3 (M368I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274124	NM_004423.4(DVL3):c.1796G>A (p.Gly599Glu)	DVL3 (G599E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274123	NM_004423.4(DVL3):c.621G>C (p.Gln207His)	DVL3 (Q207H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3250884	NM_004423.4(DVL3):c.1433G>A (p.Arg478His)	DVL3 (R478H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC121048724, LOC121048725 +160 more	Copy number loss	Esodeviation +7 more	GPathogenic
Select item 3235814	NM_004423.4(DVL3):c.1639T>C (p.Tyr547His)	DVL3 (Y547H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233373	NM_004423.4(DVL3):c.903G>C (p.Gln301His)	DVL3 (Q301H)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 3	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3086407	NM_004423.4(DVL3):c.503G>A (p.Arg168Gln)	DVL3 (R168Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086406	NM_004423.4(DVL3):c.446G>A (p.Arg149Lys)	DVL3 (R149K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086405	NM_004423.4(DVL3):c.388G>C (p.Asp130His)	DVL3 (D130H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086404	NM_004423.4(DVL3):c.1828C>T (p.Arg610Cys)	DVL3 (R610C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086403	NM_004423.4(DVL3):c.1238C>G (p.Ala413Gly)	DVL3 (A413G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086402	NM_004423.4(DVL3):c.1025G>A (p.Arg342His)	DVL3 (R342H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086401	NM_004423.4(DVL3):c.1024C>T (p.Arg342Cys)	DVL3 (R342C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062690	GRCh37/hg19 3q27.1-27.2(chr3:183822591-185678620)x3	ABCF3, ALG3 +26 more	Copy number gain	not specified	GUncertain significance
Select item 3049029	NM_004423.4(DVL3):c.1530T>G (p.Asp510Glu)	DVL3 (D510E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048202	NM_004423.4(DVL3):c.339A>T (p.Arg113=)	DVL3	Single nucleotide variant (synonymous variant)	DVL3-related disorder	GLikely benign
Select item 3041666	NM_004423.4(DVL3):c.354-6C>T	DVL3	Single nucleotide variant (intron variant)	DVL3-related disorder	GLikely benign
Select item 3038425	NM_004423.4(DVL3):c.1857G>T (p.Arg619=)	DVL3	Single nucleotide variant (synonymous variant)	DVL3-related disorder	GLikely benign
Select item 3030578	NM_004423.4(DVL3):c.763+9G>A	DVL3	Single nucleotide variant (intron variant)	DVL3-related disorder	GLikely benign
Select item 3030190	NM_004423.4(DVL3):c.747G>A (p.Thr249=)	DVL3	Single nucleotide variant (synonymous variant)	DVL3-related disorder	GLikely benign
Select item 3003746	NM_004423.4(DVL3):c.1764G>A (p.Glu588=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997334	NM_004423.4(DVL3):c.1779C>T (p.Ala593=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997147	NM_004423.4(DVL3):c.1330+9G>T	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986677	NM_004423.4(DVL3):c.600-17G>C	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986157	NM_004423.4(DVL3):c.500G>A (p.Arg167Gln)	DVL3 (R167Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2985708	NM_004423.4(DVL3):c.808G>A (p.Glu270Lys)	DVL3 (E270K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983401	NM_004423.4(DVL3):c.903+12C>T	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978852	NM_004423.4(DVL3):c.1432C>T (p.Arg478Cys)	DVL3 (R478C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978134	NM_004423.4(DVL3):c.1616A>G (p.Gln539Arg)	DVL3 (Q539R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975261	NM_004423.4(DVL3):c.1743C>T (p.Ser581=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973064	NM_004423.4(DVL3):c.716C>T (p.Thr239Met)	DVL3 (T239M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2972899	NM_004423.4(DVL3):c.887G>C (p.Gly296Ala)	DVL3 (G296A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972054	NM_004423.4(DVL3):c.870T>C (p.Asp290=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969398	NM_004423.4(DVL3):c.1429A>G (p.Ile477Val)	DVL3 (I477V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964655	NM_004423.4(DVL3):c.659G>A (p.Arg220Gln)	DVL3 (R220Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964427	NM_004423.4(DVL3):c.929_936del (p.Met310fs)	DVL3 (M310fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2961941	NM_004423.4(DVL3):c.153C>T (p.Asp51=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960080	NM_004423.4(DVL3):c.353+19T>C	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957532	NM_004423.4(DVL3):c.1821C>T (p.His607=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956500	NM_004423.4(DVL3):c.2107A>G (p.Met703Val)	DVL3 (M703V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954996	NM_004423.4(DVL3):c.1125C>T (p.Tyr375=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919735	NM_004423.4(DVL3):c.5G>C (p.Gly2Ala)	DVL3 (G2A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910179	NM_004423.4(DVL3):c.1207G>A (p.Asp403Asn)	DVL3 (D403N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896802	NM_004423.4(DVL3):c.980+8T>C	DVL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2891054	NM_004423.4(DVL3):c.658C>T (p.Arg220Trp)	DVL3 (R220W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881752	NM_004423.4(DVL3):c.1117C>T (p.Pro373Ser)	DVL3 (P373S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2877461	NM_004423.4(DVL3):c.152A>G (p.Asp51Gly)	DVL3 (D51G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875098	NM_004423.4(DVL3):c.722C>T (p.Ser241Phe)	DVL3 (S241F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872995	NM_004423.4(DVL3):c.1076C>T (p.Ala359Val)	DVL3 (A359V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871792	NM_004423.4(DVL3):c.2076G>A (p.Pro692=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869624	NM_004423.4(DVL3):c.909C>G (p.Asn303Lys)	DVL3 (N303K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868970	NM_004423.4(DVL3):c.1376C>T (p.Thr459Met)	DVL3 (T459M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857445	NM_004423.4(DVL3):c.1914T>G (p.His638Gln)	DVL3 (H638Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856741	NM_004423.4(DVL3):c.981-12C>G	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854002	NM_004423.4(DVL3):c.687T>C (p.Ile229=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847207	NM_004423.4(DVL3):c.3G>T (p.Met1Ile)	DVL3 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2845944	NM_004423.4(DVL3):c.998T>C (p.Val333Ala)	DVL3 (V333A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835066	NM_004423.4(DVL3):c.1958A>G (p.Tyr653Cys)	DVL3 (Y653C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831203	NM_004423.4(DVL3):c.1701T>C (p.Ser567=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824066	NM_004423.4(DVL3):c.843C>A (p.Ile281=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824065	NM_004423.4(DVL3):c.693+18C>T	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822723	NM_004423.4(DVL3):c.468C>G (p.Thr156=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814405	NM_004423.4(DVL3):c.337C>T (p.Arg113Ter)	DVL3 (R113*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2814295	NM_004423.4(DVL3):c.407A>C (p.Asp136Ala)	DVL3 (D136A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812312	NM_004423.4(DVL3):c.341C>T (p.Pro114Leu)	DVL3 (P114L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806848	NM_004423.4(DVL3):c.1933C>T (p.Arg645Cys)	DVL3 (R645C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800513	NM_004423.4(DVL3):c.162-16C>G	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800242	NM_004423.4(DVL3):c.322G>A (p.Gly108Ser)	DVL3 (G108S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795439	NM_004423.4(DVL3):c.1446C>T (p.Asn482=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793622	NM_004423.4(DVL3):c.277G>A (p.Ala93Thr)	DVL3 (A93T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786811	NM_004423.4(DVL3):c.54T>C (p.Leu18=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784815	NM_004423.4(DVL3):c.187del (p.Asp63fs)	DVL3 (D63fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2778847	NM_004423.4(DVL3):c.27C>T (p.His9=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778072	NM_004423.4(DVL3):c.232-19C>T	DVL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754914	NM_004423.4(DVL3):c.1329C>T (p.Ile443=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2741324	NM_004423.4(DVL3):c.1875A>T (p.Ser625=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2741215	NM_004423.4(DVL3):c.1680C>T (p.Tyr560=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2726525	NM_004423.4(DVL3):c.6C>T (p.Gly2=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695661	NM_004423.4(DVL3):c.2126G>T (p.Ser709Ile)	DVL3 (S709I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672969	NM_004423.4(DVL3):c.2072_2073insGGGGGCACTGAGGCCAGGTCGCGG (p.Pro691_Pro692insGlyAlaLeuArgProGlyArgGly)	DVL3	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2664033	NM_004423.4(DVL3):c.292del (p.Glu98fs)	DVL3 (E98fs)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 3	GLikely pathogenic
Select item 2654307	NM_004423.4(DVL3):c.1359C>G (p.His453Gln)	DVL3 (H453Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654306	NM_004423.4(DVL3):c.939C>T (p.Asp313=)	DVL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654305	NM_004423.4(DVL3):c.354-1G>T	DVL3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2654304	NM_004423.4(DVL3):c.-6A>G	DVL3	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2636565	NM_004423.4(DVL3):c.2048C>T (p.Pro683Leu)	DVL3 (P683L)	Single nucleotide variant (missense variant)	DVL3-related disorder	GUncertain significance
Select item 2635126	NM_004423.4(DVL3):c.218G>A (p.Arg73Gln)	DVL3 (R73Q)	Single nucleotide variant (missense variant)	DVL3-related disorder	GUncertain significance
Select item 2629551	NM_004423.4(DVL3):c.1528G>T (p.Asp510Tyr)	DVL3 (D510Y)	Single nucleotide variant (missense variant)	DVL3-related disorder	GUncertain significance
Select item 2573525	NM_004423.4(DVL3):c.812G>A (p.Arg271His)	DVL3 (R271H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557419	NM_004423.4(DVL3):c.400G>C (p.Glu134Gln)	DVL3 (E134Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555138	NM_004423.4(DVL3):c.1049G>A (p.Ser350Asn)	DVL3 (S350N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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