ClinVar for Gene (Select 1855) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384558	NM_001330311.2(DVL1):c.926T>C (p.Phe309Ser)	DVL1 (F309S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373023	NM_001330311.2(DVL1):c.141C>A (p.Phe47Leu)	DVL1 (F47L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369927	NM_001330311.2(DVL1):c.394G>A (p.Asp132Asn)	DVL1 (D132N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365784	NM_001330311.2(DVL1):c.1359G>A (p.Trp453Ter)	DVL1 (W428* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3343334	NM_001330311.2(DVL1):c.109C>T (p.Leu37Phe)	DVL1 (L37F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342831	NM_001330311.2(DVL1):c.1054+5G>T	DVL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3274112	NM_001330311.2(DVL1):c.1285C>A (p.Leu429Met)	DVL1 (L429M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274111	NM_001330311.2(DVL1):c.299C>G (p.Thr100Arg)	DVL1 (T100R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251732	NM_001330311.2(DVL1):c.661C>T (p.Arg221Cys)	DVL1 (R221C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250766	NM_001330311.2(DVL1):c.1914C>G (p.Ala638=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3247908	NC_000001.10:g.(?_1284256)_(1475190_?)dup	DVL1, MRPL20 +10 more	Duplication	not provided	GUncertain significance
Select item 3247720	NC_000001.10:g.(?_1146935)_(3768971_?)del	ACAP3, ACTRT2 +60 more	Deletion	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3086381	NM_001330311.2(DVL1):c.458G>A (p.Arg153His)	DVL1 (R153H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086380	NM_001330311.2(DVL1):c.446G>A (p.Arg149Gln)	DVL1 (R149Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086379	NM_001330311.2(DVL1):c.410C>A (p.Thr137Lys)	DVL1 (T137K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086378	NM_001330311.2(DVL1):c.1987G>C (p.Val663Leu)	DVL1 (V663L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086377	NM_001330311.2(DVL1):c.1916C>T (p.Pro639Leu)	DVL1 (P639L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086376	NM_001330311.2(DVL1):c.172G>A (p.Val58Met)	DVL1 (V58M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086375	NM_001330311.2(DVL1):c.1796G>A (p.Gly599Asp)	DVL1 (G599D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086373	NM_001330311.2(DVL1):c.1750C>G (p.Arg584Gly)	DVL1 (R559G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086372	NM_001330311.2(DVL1):c.1579C>A (p.His527Asn)	DVL1 (H502N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086371	NM_001330311.2(DVL1):c.1390C>T (p.Arg464Trp)	DVL1 (R439W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086370	NM_001330311.2(DVL1):c.1259G>A (p.Arg420Gln)	DVL1 (R395Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086369	NM_001330311.2(DVL1):c.1231G>A (p.Val411Met)	DVL1 (V386M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063255	GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	ACAP3, ACTRT2 +76 more	Copy number gain	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 3052053	NM_001330311.2(DVL1):c.770-7C>G	DVL1	Single nucleotide variant (intron variant)	DVL1-related disorder	GLikely benign
Select item 3042235	NM_001330311.2(DVL1):c.825C>T (p.Asp275=)	DVL1	Single nucleotide variant (synonymous variant)	DVL1-related disorder	GLikely benign
Select item 3039029	NM_001330311.2(DVL1):c.396C>T (p.Asp132=)	DVL1	Single nucleotide variant (synonymous variant)	DVL1-related disorder	GLikely benign
Select item 3033799	NM_001330311.2(DVL1):c.*9G>A	DVL1	Single nucleotide variant (3 prime UTR variant)	DVL1-related disorder	GLikely benign
Select item 3032018	NM_001330311.2(DVL1):c.1651C>A (p.Pro551Thr)	DVL1 (P526T +1 more)	Single nucleotide variant (missense variant)	DVL1-related disorder	GUncertain significance
Select item 3029693	NM_001330311.2(DVL1):c.855G>A (p.Lys285=)	DVL1	Single nucleotide variant (synonymous variant)	DVL1-related disorder	GLikely benign
Select item 3025883	NM_001330311.2(DVL1):c.1904C>T (p.Ser635Leu)	DVL1 (S610L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022251	NM_001330311.2(DVL1):c.1715-16C>T	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021956	NM_001330311.2(DVL1):c.1871T>A (p.Leu624His)	DVL1 (L624H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021955	NM_001330311.2(DVL1):c.711C>G (p.Phe237Leu)	DVL1 (F237L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020711	NM_001330311.2(DVL1):c.1715-19A>G	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020653	NM_001330311.2(DVL1):c.605+8G>A	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020053	NM_001330311.2(DVL1):c.331G>A (p.Gly111Ser)	DVL1 (G111S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3019586	NM_001330311.2(DVL1):c.700-20A>C	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017035	NM_001330311.2(DVL1):c.1340-16C>T	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016440	NM_001330311.2(DVL1):c.829G>A (p.Gly277Ser)	DVL1 (G277S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015948	NM_001330311.2(DVL1):c.452G>A (p.Arg151Gln)	DVL1 (R151Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014639	NM_001330311.2(DVL1):c.885C>T (p.Ile295=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012592	NM_001330311.2(DVL1):c.704C>G (p.Ser235Cys)	DVL1 (S235C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3012174	NM_001330311.2(DVL1):c.1757C>T (p.Pro586Leu)	DVL1 (P561L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009267	NM_001330311.2(DVL1):c.374C>T (p.Ala125Val)	DVL1 (A125V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005871	NM_001330311.2(DVL1):c.606-17dup	DVL1	Duplication (intron variant)	not provided	GLikely benign
Select item 3005520	NM_001330311.2(DVL1):c.2084T>C (p.Met695Thr)	DVL1 (M695T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003799	NM_001330311.2(DVL1):c.1674T>C (p.Phe558=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003468	NM_001330311.2(DVL1):c.1529A>G (p.Asn510Ser)	DVL1 (N485S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002164	NM_001330311.2(DVL1):c.537C>T (p.Ser179=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001953	NM_001330311.2(DVL1):c.2000C>A (p.Ala667Asp)	DVL1 (A667D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997074	NM_001330311.2(DVL1):c.1074C>T (p.Ile358=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993722	NM_001330311.2(DVL1):c.1093T>G (p.Ser365Ala)	DVL1 (S365A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993604	NM_001330311.2(DVL1):c.536C>T (p.Ser179Phe)	DVL1 (S179F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991861	NM_001330311.2(DVL1):c.1320C>T (p.Thr440=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991360	NM_001330311.2(DVL1):c.1947G>C (p.Lys649Asn)	DVL1 (K624N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989033	NM_001330311.2(DVL1):c.699+14T>C	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987473	NM_001330311.2(DVL1):c.170+3C>T	DVL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2986517	NM_001330311.2(DVL1):c.1441C>T (p.Arg481Trp)	DVL1 (R481W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985264	NM_001330311.2(DVL1):c.327A>G (p.Thr109=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983444	NM_001330311.2(DVL1):c.909+19C>G	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982549	NM_001330311.2(DVL1):c.1393C>T (p.Arg465Trp)	DVL1 (R440W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982334	NM_001330311.2(DVL1):c.1821G>A (p.Thr607=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981541	NM_001330311.2(DVL1):c.1656C>T (p.Ala552=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980972	NM_001330311.2(DVL1):c.2007C>T (p.Val669=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977765	NM_001330311.2(DVL1):c.894C>T (p.Gly298=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975338	NM_001330311.2(DVL1):c.607C>G (p.Leu203Val)	DVL1 (L203V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2972327	NM_001330311.2(DVL1):c.672G>A (p.Arg224=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971870	NM_001330311.2(DVL1):c.986+9T>G	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971546	NM_001330311.2(DVL1):c.1939A>C (p.Thr647Pro)	DVL1 (T622P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970760	NM_001330311.2(DVL1):c.542C>T (p.Ala181Val)	DVL1 (A181V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968422	NM_001330311.2(DVL1):c.2070C>A (p.Phe690Leu)	DVL1 (F665L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967830	NM_001330311.2(DVL1):c.1339+19G>A	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965735	NM_001330311.2(DVL1):c.2034G>T (p.Gln678His)	DVL1 (Q653H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964563	NM_001330311.2(DVL1):c.743A>G (p.Asn248Ser)	DVL1 (N248S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2963938	NM_001330311.2(DVL1):c.472C>T (p.Arg158Trp)	DVL1 (R158W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963092	NM_001330311.2(DVL1):c.600G>T (p.Thr200=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961409	NM_001330311.2(DVL1):c.1464C>T (p.Thr488=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960045	NM_001330311.2(DVL1):c.1508-6C>G	DVL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2960013	NM_001330311.2(DVL1):c.1054+10C>T	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957639	NM_001330311.2(DVL1):c.645C>T (p.Leu215=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957285	NM_001330311.2(DVL1):c.724G>A (p.Asp242Asn)	DVL1 (D242N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956620	NM_001330311.2(DVL1):c.700-13dup	DVL1	Duplication (intron variant)	not provided	GBenign
Select item 2956577	NM_001330311.2(DVL1):c.1296C>T (p.Arg432=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956359	NM_001330311.2(DVL1):c.363-19C>G	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956358	NM_001330311.2(DVL1):c.363-16T>A	DVL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2956357	NM_001330311.2(DVL1):c.363-15_363-14insGCCTCCCCA	DVL1	Insertion (intron variant)	not provided	GLikely benign
Select item 2955922	NM_001330311.2(DVL1):c.2059C>A (p.Pro687Thr)	DVL1 (P687T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954791	NM_001330311.2(DVL1):c.818G>A (p.Arg273His)	DVL1 (R273H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2917193	NM_001330311.2(DVL1):c.297C>T (p.His99=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914734	NM_001330311.2(DVL1):c.886G>A (p.Glu296Lys)	DVL1 (E296K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912807	NM_001330311.2(DVL1):c.581C>T (p.Ser194Leu)	DVL1 (S194L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912131	NM_001330311.2(DVL1):c.249G>C (p.Leu83=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908796	NM_001330311.2(DVL1):c.584A>G (p.Asp195Gly)	DVL1 (D195G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2908646	NM_001330311.2(DVL1):c.67G>T (p.Val23Leu)	DVL1 (V23L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907444	NM_001330311.2(DVL1):c.769+7C>T	DVL1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2907443	NM_001330311.2(DVL1):c.1470C>T (p.Ser490=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906996	NM_001330311.2(DVL1):c.1695C>G (p.Thr565=)	DVL1, LOC129929114	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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