7474[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60057	GRCh38/hg38 3p21.1-14.3(chr3:53287477-57025368)x1	ACTR8, ARHGEF3 +53 more	Copy number loss	See cases	GUncertain significance
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +217 more	Copy number loss	See cases	GPathogenic
Select item 346206	NM_003392.7(WNT5A):c.*4179dup	WNT5A	Duplication (3 prime UTR variant)	Autosomal dominant Robinow syndrome 1	GBenign
Select item 346210	NM_003392.7(WNT5A):c.*3932CT[3]	WNT5A	Microsatellite (3 prime UTR variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 346228	NM_003392.7(WNT5A):c.*2731dup	WNT5A	Duplication (3 prime UTR variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 346229	NM_003392.7(WNT5A):c.2728_2730del	WNT5A	Deletion (3 prime UTR variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 346230	NM_003392.7(WNT5A):c.*2728del	WNT5A	Deletion (3 prime UTR variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 346231	NM_003392.7(WNT5A):c.2711_2713del	WNT5A	Deletion (3 prime UTR variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 346232	NM_003392.7(WNT5A):c.*2711del	WNT5A	Deletion (3 prime UTR variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 1712780	NM_003392.7(WNT5A):c.*2011G>A	WNT5A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1325973	NM_003392.7(WNT5A):c.1951_1953dup	WNT5A	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 1242175	NM_003392.7(WNT5A):c.1950_1953dup	WNT5A	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 346240	NM_003392.7(WNT5A):c.1952_1953dup	WNT5A	Duplication (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 346239	NM_003392.7(WNT5A):c.*1953dup	WNT5A	Duplication (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1247729	NM_003392.7(WNT5A):c.*1953del	WNT5A	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 346241	NM_003392.7(WNT5A):c.1952_1953del	WNT5A	Deletion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1252563	NM_003392.7(WNT5A):c.*1869C>T	WNT5A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 346248	NM_003392.7(WNT5A):c.*1452AATATA[4]	WNT5A	Microsatellite (3 prime UTR variant)	Autosomal dominant Robinow syndrome 1	GLikely benign
Select item 346249	NM_003392.7(WNT5A):c.*1444TA[5]	WNT5A	Microsatellite (3 prime UTR variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 346251	NM_003392.7(WNT5A):c.*1428TA[8]	WNT5A	Microsatellite (3 prime UTR variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 346252	NM_003392.7(WNT5A):c.*1428TA[6]	WNT5A	Microsatellite (3 prime UTR variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 346265	NM_003392.7(WNT5A):c.*38C>T	WNT5A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2958499	NM_003392.7(WNT5A):c.1128G>A (p.Gln376=)	WNT5A	Single nucleotide variant (synonymous variant)	WNT5A-related disorder +1 more	GLikely benign
Select item 1023432	NM_003392.7(WNT5A):c.1123G>A (p.Asp375Asn)	WNT5A (D360N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2700457	NM_003392.7(WNT5A):c.1116G>A (p.Glu372=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911005	NM_003392.7(WNT5A):c.1113G>A (p.Thr371=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2909421	NM_003392.7(WNT5A):c.1080C>T (p.His360=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1714707	NM_003392.7(WNT5A):c.1063T>C (p.Cys355Arg)	WNT5A (C340R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2183724	NM_003392.7(WNT5A):c.1062C>T (p.Arg354=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3052450	NM_003392.7(WNT5A):c.1055C>T (p.Thr352Met)	WNT5A (T337M +1 more)	Single nucleotide variant (missense variant)	WNT5A-related disorder	GUncertain significance
Select item 392255	NM_003392.7(WNT5A):c.1052A>T (p.Gln351Leu)	WNT5A (Q351L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 742590	NM_003392.7(WNT5A):c.1047C>T (p.Thr349=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1495295	NM_003392.7(WNT5A):c.1038G>C (p.Gln346His)	WNT5A (Q346H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1659405	NM_003392.7(WNT5A):c.1032C>T (p.Tyr344=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1053536	NM_003392.7(WNT5A):c.1005C>T (p.Cys335=)	WNT5A	Single nucleotide variant (synonymous variant)	Autosomal dominant Robinow syndrome 1 +1 more	GUncertain significance
Select item 1025097	NM_003392.7(WNT5A):c.991G>T (p.Gly331Cys)	WNT5A (G316C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2988673	NM_003392.7(WNT5A):c.983C>T (p.Thr328Met)	WNT5A (T328M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1349309	NM_003392.7(WNT5A):c.977A>G (p.Asn326Ser)	WNT5A (N311S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190414	NM_003392.7(WNT5A):c.968G>A (p.Arg323His)	WNT5A (R323H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958715	NM_003392.7(WNT5A):c.962A>G (p.Gln321Arg)	WNT5A (Q306R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 741104	NM_003392.7(WNT5A):c.951G>A (p.Ser317=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1487547	NM_003392.7(WNT5A):c.937G>A (p.Glu313Lys)	WNT5A (E313K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2976184	NM_003392.7(WNT5A):c.932G>T (p.Arg311Leu)	WNT5A (R311L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754685	NM_003392.7(WNT5A):c.916C>G (p.Pro306Ala)	WNT5A (P291A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985195	NM_003392.7(WNT5A):c.915C>T (p.Ser305=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2438613	NM_003392.7(WNT5A):c.890A>G (p.Gln297Arg)	WNT5A (Q282R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 1	GUncertain significance
Select item 2129422	NM_003392.7(WNT5A):c.879G>T (p.Ser293=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906076	NM_003392.7(WNT5A):c.878C>T (p.Ser293Leu)	WNT5A (S293L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1474222	NM_003392.7(WNT5A):c.868C>G (p.Arg290Gly)	WNT5A (R275G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695628	NM_003392.7(WNT5A):c.860_861delinsAA (p.Val287Glu)	WNT5A (V287E +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 775879	NM_003392.7(WNT5A):c.850T>C (p.Leu284=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 283830	NM_003392.7(WNT5A):c.839G>A (p.Ser280Asn)	WNT5A (S280N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1601043	NM_003392.7(WNT5A):c.830G>A (p.Arg277Gln)	WNT5A (R262Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2273836	NM_003392.7(WNT5A):c.826A>T (p.Met276Leu)	WNT5A (M261L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2104367	NM_003392.7(WNT5A):c.824C>T (p.Ala275Val)	WNT5A (A260V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2292315	NM_003392.7(WNT5A):c.823G>A (p.Ala275Thr)	WNT5A (A260T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 726321	NM_003392.7(WNT5A):c.822G>A (p.Ala274=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 282988	NM_003392.7(WNT5A):c.819G>A (p.Ala273=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2084460	NM_003392.7(WNT5A):c.818C>T (p.Ala273Val)	WNT5A (A273V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631957	NM_003392.7(WNT5A):c.817G>A (p.Ala273Thr)	WNT5A (A258T +1 more)	Single nucleotide variant (missense variant)	WNT5A-related disorder	GUncertain significance
Select item 1979234	NM_003392.7(WNT5A):c.816C>T (p.Ser272=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633451	NM_003392.7(WNT5A):c.811G>C (p.Asp271His)	WNT5A (D256H +1 more)	Single nucleotide variant (missense variant)	WNT5A-related disorder	GUncertain significance
Select item 346267	NM_003392.7(WNT5A):c.807G>A (p.Lys269=)	WNT5A	Single nucleotide variant (synonymous variant)	WNT5A-related disorder +2 more	GBenign/Likely benign
Select item 2476745	NM_003392.7(WNT5A):c.804G>C (p.Glu268Asp)	WNT5A (E253D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 597732	NM_003392.7(WNT5A):c.779G>T (p.Arg260Leu)	WNT5A (R260L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872635	NM_003392.7(WNT5A):c.723T>C (p.His241=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928672	NM_003392.7(WNT5A):c.695A>G (p.Asn232Ser)	WNT5A (N217S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1918246	NM_003392.7(WNT5A):c.692A>G (p.Tyr231Cys)	WNT5A (Y216C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2616212	NM_003392.7(WNT5A):c.691T>C (p.Tyr231His)	WNT5A (Y231H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2711706	NM_003392.7(WNT5A):c.686C>T (p.Thr229Met)	WNT5A (T229M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1224446	NM_003392.7(WNT5A):c.685A>G (p.Thr229Ala)	WNT5A (T229A +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 1 +1 more	GUncertain significance
Select item 1595441	NM_003392.7(WNT5A):c.685-3C>T	WNT5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605984	NM_003392.7(WNT5A):c.685-11T>C	WNT5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863568	NM_003392.7(WNT5A):c.685-13C>T	WNT5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268922	NM_003392.7(WNT5A):c.685-152T>C	WNT5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273372	NM_003392.7(WNT5A):c.684+290G>A	WNT5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268565	NM_003392.7(WNT5A):c.684+263C>T	WNT5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1633369	NM_003392.7(WNT5A):c.684+18C>A	WNT5A	Single nucleotide variant (intron variant)	Autosomal dominant Robinow syndrome 1 +1 more	GLikely benign
Select item 1615280	NM_003392.7(WNT5A):c.684+17_684+18delinsTG	WNT5A	Indel (intron variant)	not provided	GLikely benign
Select item 1549769	NM_003392.7(WNT5A):c.684+18C>T	WNT5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2103322	NM_003392.7(WNT5A):c.684+16C>T	WNT5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2108861	NM_003392.7(WNT5A):c.684+10G>A	WNT5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926203	NM_003392.7(WNT5A):c.675C>A (p.Ala225=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1978800	NM_003392.7(WNT5A):c.669C>T (p.Asn223=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1440618	NM_003392.7(WNT5A):c.662A>G (p.His221Arg)	WNT5A (H206R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1718186	NM_003392.7(WNT5A):c.661C>T (p.His221Tyr)	WNT5A (H206Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2775427	NM_003392.7(WNT5A):c.654G>C (p.Met218Ile)	WNT5A (M218I +1 more)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 1011272	NM_003392.7(WNT5A):c.641C>G (p.Ala214Gly)	WNT5A (A199G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700815	NM_003392.7(WNT5A):c.635A>G (p.Glu212Gly)	WNT5A (E197G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1046361	NM_003392.7(WNT5A):c.634G>A (p.Glu212Lys)	WNT5A (E212K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3061040	NM_003392.7(WNT5A):c.625G>A (p.Gly209Ser)	WNT5A (G194S +1 more)	Single nucleotide variant (missense variant)	WNT5A-related disorder	GUncertain significance
Select item 1501519	NM_003392.7(WNT5A):c.622A>G (p.Lys208Glu)	WNT5A (K193E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2187177	NM_003392.7(WNT5A):c.619G>T (p.Ala207Ser)	WNT5A (A192S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783304	NM_003392.7(WNT5A):c.618C>T (p.His206=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1984959	NM_003392.7(WNT5A):c.606G>A (p.Arg202=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961906	NM_003392.7(WNT5A):c.595G>C (p.Ala199Pro)	WNT5A (A199P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1612451	NM_003392.7(WNT5A):c.594C>T (p.Asp198=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2443688	NM_003392.7(WNT5A):c.588_589dup (p.Val197fs)	WNT5A (V182fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 197214	NM_003392.7(WNT5A):c.588C>T (p.Phe196=)	WNT5A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2265386	NM_003392.7(WNT5A):c.578C>T (p.Ala193Val)	WNT5A (A178V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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