12775[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 1225904	NM_003394.4(WNT10B):c.*185A>G	WNT10B	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1403304	NM_003394.4(WNT10B):c.1157A>G (p.Asn386Ser)	WNT10B (N386S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502573	NM_003394.4(WNT10B):c.1127G>A (p.Cys376Tyr)	WNT10B (C376Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306587	NM_003394.4(WNT10B):c.1087C>T (p.Arg363Cys)	WNT10B (R363C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452097	NM_003394.4(WNT10B):c.1087C>G (p.Arg363Gly)	WNT10B (R363G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2459142	NM_003394.4(WNT10B):c.1070G>A (p.Arg357Gln)	WNT10B (R357Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2442598	NM_003394.4(WNT10B):c.1069C>T (p.Arg357Trp)	WNT10B (R357W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932195	NM_003394.4(WNT10B):c.1063G>A (p.Val355Met)	WNT10B (V355M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140195	NM_003394.4(WNT10B):c.1062C>T (p.Asn354=)	WNT10B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1175136	NM_003394.4(WNT10B):c.1059C>T (p.His353=)	WNT10B	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 8 +2 more	GBenign
Select item 493116	NM_003394.4(WNT10B):c.995G>A (p.Arg332Gln)	WNT10B (R332Q)	Single nucleotide variant (missense variant)	Split hand-foot malformation 6 +1 more	GUncertain significance
Select item 7630	NM_003394.4(WNT10B):c.994C>T (p.Arg332Trp)	WNT10B (R332W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2971064	NM_003394.4(WNT10B):c.969dup (p.Met324fs)	WNT10B (M324fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2078951	NM_003394.4(WNT10B):c.967A>C (p.Thr323Pro)	WNT10B (T323P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 634648	NM_003394.4(WNT10B):c.949T>A (p.Phe317Ile)	WNT10B (F317I)	Single nucleotide variant (missense variant)	Split hand-foot malformation 6	GLikely pathogenic
Select item 2333428	NM_003394.4(WNT10B):c.913T>C (p.Ser305Pro)	WNT10B (S305P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782957	NM_003394.4(WNT10B):c.901C>T (p.Pro301Ser)	WNT10B (P301S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2098787	NM_003394.4(WNT10B):c.884_896del (p.Phe295fs)	WNT10B (F295fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1984259	NM_003394.4(WNT10B):c.893G>A (p.Arg298His)	WNT10B (R298H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2374467	NM_003394.4(WNT10B):c.892C>T (p.Arg298Cys)	WNT10B (R298C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2069153	NM_003394.4(WNT10B):c.854T>C (p.Ile285Thr)	WNT10B (I285T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2642929	NM_003394.4(WNT10B):c.849C>A (p.Ile283=)	WNT10B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3333201	NM_003394.4(WNT10B):c.847A>G (p.Ile283Val)	WNT10B (I283V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473038	NM_003394.4(WNT10B):c.841C>T (p.Arg281Trp)	WNT10B (R281W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2989170	NM_003394.4(WNT10B):c.836T>C (p.Leu279Pro)	WNT10B (L279P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2623833	NM_003394.4(WNT10B):c.833G>T (p.Arg278Leu)	WNT10B (R278L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1944072	NM_003394.4(WNT10B):c.832C>T (p.Arg278Trp)	WNT10B (R278W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2457682	NM_003394.4(WNT10B):c.821C>A (p.Ala274Glu)	WNT10B (A274E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1902706	NM_003394.4(WNT10B):c.818C>T (p.Ala273Val)	WNT10B (A273V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 634647	NM_003394.4(WNT10B):c.817dup (p.Ala273fs)	WNT10B (A273fs)	Duplication (frameshift variant)	Tooth agenesis, selective, 8	GUncertain significance
Select item 634645	NM_003394.4(WNT10B):c.817del (p.Ala273fs)	WNT10B (A273fs)	Deletion (frameshift variant)	Split hand-foot malformation 6	GPathogenic
Select item 2538296	NM_003394.4(WNT10B):c.811G>C (p.Val271Leu)	WNT10B (V271L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1906523	NM_003394.4(WNT10B):c.801G>A (p.Glu267=)	WNT10B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3035750	NM_003394.4(WNT10B):c.798A>G (p.Pro266=)	WNT10B	Single nucleotide variant (synonymous variant)	WNT10B-related disorder	GLikely benign
Select item 253058	NM_003394.4(WNT10B):c.786G>A (p.Trp262Ter)	WNT10B (W262*)	Single nucleotide variant (nonsense)	Tooth agenesis, selective, 8	GPathogenic
Select item 2136157	NM_003394.4(WNT10B):c.767G>A (p.Cys256Tyr)	WNT10B (C256Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 634646	NM_003394.4(WNT10B):c.746G>T (p.Cys249Phe)	WNT10B (C249F)	Single nucleotide variant (missense variant)	Split hand-foot malformation 6	GLikely pathogenic
Select item 1695395	NM_003394.4(WNT10B):c.741del (p.Lys246_Cys247insTer)	WNT10B	Deletion (nonsense)	Split hand-foot malformation 6	GPathogenic
Select item 2618049	NM_003394.4(WNT10B):c.733C>T (p.Arg245Trp)	WNT10B (R245W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335134	NM_003394.4(WNT10B):c.725A>C (p.Asn242Thr)	WNT10B (N242T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1200784	NM_003394.4(WNT10B):c.712-292A>G	WNT10B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2304987	NM_003394.4(WNT10B):c.700G>A (p.Val234Met)	WNT10B (V234M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 599263	NM_003394.4(WNT10B):c.689ACA[2] (p.Asn232del)	WNT10B (N232del)	Microsatellite (inframe_deletion)	Split hand-foot malformation 6	GPathogenic
Select item 2920324	NM_003394.4(WNT10B):c.683G>A (p.Arg228Gln)	WNT10B (R228Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 522440	NM_003394.4(WNT10B):c.676C>T (p.Arg226Ter)	WNT10B (R226*)	Single nucleotide variant (nonsense)	WNT10B-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 3356956	NM_003394.4(WNT10B):c.661C>T (p.Arg221Trp)	WNT10B (R221W)	Single nucleotide variant (missense variant)	WNT10B-related disorder	GUncertain significance
Select item 253057	NM_003394.4(WNT10B):c.632G>A (p.Arg211Gln)	WNT10B (R211Q)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 8	GPathogenic
Select item 3333198	NM_003394.4(WNT10B):c.631C>T (p.Arg211Trp)	WNT10B (R211W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2915752	NM_003394.4(WNT10B):c.623A>G (p.Lys208Arg)	WNT10B (K208R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2172745	NM_003394.4(WNT10B):c.543C>T (p.Gly181=)	WNT10B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1931147	NM_003394.4(WNT10B):c.542G>A (p.Gly181Asp)	WNT10B (G181D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2294701	NM_003394.4(WNT10B):c.539C>T (p.Pro180Leu)	WNT10B (P180L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3333200	NM_003394.4(WNT10B):c.533C>T (p.Pro178Leu)	WNT10B (P178L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257800	NM_003394.4(WNT10B):c.523C>G (p.His175Asp)	WNT10B (H175D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580052	NM_003394.4(WNT10B):c.515G>A (p.Ser172Asn)	WNT10B (S172N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698374	NM_003394.4(WNT10B):c.499_500del (p.Leu167fs)	WNT10B (L167fs)	Deletion (frameshift variant)	Split hand-foot malformation 6	GPathogenic
Select item 741287	NM_003394.4(WNT10B):c.498A>C (p.Ala166=)	WNT10B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 30237	NM_003394.4(WNT10B):c.458_461dup (p.Asp155fs)	WNT10B (D155fs)	Duplication (frameshift variant)	Split hand-foot malformation 6	GPathogenic
Select item 1666274	NM_003394.4(WNT10B):c.396A>T (p.Val132=)	WNT10B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2083188	NM_003394.4(WNT10B):c.391G>A (p.Ala131Thr)	WNT10B (A131T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3333197	NM_003394.4(WNT10B):c.344G>A (p.Arg115Gln)	WNT10B (R115Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1696948	NM_003394.4(WNT10B):c.343C>G (p.Arg115Gly)	WNT10B (R115G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 545118	NM_003394.4(WNT10B):c.338-1G>C	WNT10B	Single nucleotide variant (splice acceptor variant)	Split hand-foot malformation 6	GPathogenic/Likely pathogenic
Select item 1678312	NM_003394.4(WNT10B):c.337+14G>C	WNT10B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 710633	NM_003394.4(WNT10B):c.337+7C>T	WNT10B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1895401	NM_003394.4(WNT10B):c.337G>C (p.Gly113Arg)	WNT10B (G113R)	Single nucleotide variant (missense variant)	Split hand-foot malformation 6	GUncertain significance
Select item 3190706	NM_003394.4(WNT10B):c.319A>G (p.Ser107Gly)	WNT10B (S107G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 623323	NM_003394.4(WNT10B):c.290T>C (p.Leu97Pro)	WNT10B (L97P)	Single nucleotide variant (missense variant)	Split hand-foot malformation 6	GUncertain significance
Select item 1675491	NM_003394.4(WNT10B):c.288G>A (p.Ala96=)	WNT10B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2276825	NM_003394.4(WNT10B):c.287C>A (p.Ala96Glu)	WNT10B (A96E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3346131	NM_003394.4(WNT10B):c.275G>T (p.Trp92Leu)	WNT10B (W92L)	Single nucleotide variant (missense variant)	WNT10B-related disorder	GUncertain significance
Select item 2578248	NM_003394.4(WNT10B):c.265G>A (p.Asp89Asn)	WNT10B (D89N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 638164	NM_003394.4(WNT10B):c.257A>C (p.Gln86Pro)	WNT10B (Q86P)	Single nucleotide variant (missense variant)	Split hand-foot malformation 6	GLikely pathogenic
Select item 2879823	NM_003394.4(WNT10B):c.255C>T (p.His85=)	WNT10B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3045345	NM_003394.4(WNT10B):c.242A>C (p.His81Pro)	WNT10B (H81P)	Single nucleotide variant (missense variant)	WNT10B-related disorder	GUncertain significance
Select item 2396062	NM_003394.4(WNT10B):c.241C>G (p.His81Asp)	WNT10B (H81D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1218157	NM_003394.4(WNT10B):c.229C>T (p.His77Tyr)	WNT10B (H77Y)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3333199	NM_003394.4(WNT10B):c.209C>T (p.Ala70Val)	WNT10B (A70V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519359	NM_003394.4(WNT10B):c.190C>T (p.Arg64Cys)	WNT10B (R64C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1333232	NM_003394.4(WNT10B):c.117_136del (p.Glu39fs)	WNT10B (E39fs)	Deletion (frameshift variant)	Split hand-foot malformation 6	GPathogenic
Select item 2664721	NM_003394.4(WNT10B):c.115G>T (p.Glu39Ter)	WNT10B (E39*)	Single nucleotide variant (nonsense)	Split hand-foot malformation 6	GLikely pathogenic
Select item 736962	NM_003394.4(WNT10B):c.110C>G (p.Pro37Arg)	WNT10B (P37R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2964805	NM_003394.4(WNT10B):c.105G>T (p.Lys35Asn)	WNT10B (K35N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2621031	NM_003394.4(WNT10B):c.100C>G (p.Leu34Val)	WNT10B (L34V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2964806	NM_003394.4(WNT10B):c.87T>C (p.Asn29=)	WNT10B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807794	NM_003394.4(WNT10B):c.75-12_75-10del	WNT10B	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2502298	NM_003394.4(WNT10B):c.53T>A (p.Leu18Gln)	WNT10B (L18Q)	Single nucleotide variant (missense variant)	Split hand-foot malformation 6	GLikely pathogenic
Select item 1585080	NM_003394.4(WNT10B):c.47G>A (p.Gly16Asp)	WNT10B (G16D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 729024	NM_003394.4(WNT10B):c.36G>A (p.Ser12=)	WNT10B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1279755	NM_003394.4(WNT10B):c.-40-39C>T	WNT10B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3244386	NC_000012.11:g.(?_49308167)_(49375423_?)del	ARF3, CCDC65 +3 more	Deletion	not provided	GPathogenic
Select item 3244281	NC_000012.11:g.(?_49162374)_(49437585_?)dup	ADCY6, ARF3 +10 more	Duplication	Kabuki syndrome	GUncertain significance
Select item 3244280	NC_000012.11:g.(?_49298120)_(49488295_?)dup	ARF3, CCDC65 +8 more	Duplication	Kabuki syndrome	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979964	GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3	ADCY6, ARF3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 633775	GRCh37/hg19 12q13.11-13.12(chr12:49034325-49468966)x1	ADCY6, ARF3 +13 more	Copy number loss	Kabuki syndrome 1	GPathogenic
Select item 563945	GRCh37/hg19 12q13.12(chr12:49191810-49630201)x3	CCDC65, WNT10B +14 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance

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