WNT1[gene] - 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 672350	NM_005430.3(WNT1):c.-347C>A	WNT1, LOC130007808	Single nucleotide variant	not provided	GBenign
Select item 2636643	NM_005430.4(WNT1):c.6del (p.Leu3fs)	WNT1 (L3fs)	Deletion (frameshift variant +1 more)	WNT1-related disorder	GLikely pathogenic
Select item 2117080	NM_005430.4(WNT1):c.3G>A (p.Met1Ile)	WNT1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1946808	NM_005430.4(WNT1):c.5_6delinsAA (p.Gly2Glu)	WNT1 (G2E)	Indel (missense variant)	not provided	GUncertain significance
Select item 2569583	NM_005430.4(WNT1):c.8T>A (p.Leu3His)	WNT1 (L3H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3002970	NM_005430.4(WNT1):c.15G>T (p.Ala5=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1702071	NM_005430.4(WNT1):c.23C>T (p.Pro8Leu)	WNT1 (P8L)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GUncertain significance
Select item 1702072	NM_005430.4(WNT1):c.27C>T (p.Gly9=)	WNT1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta	GUncertain significance
Select item 1900992	NM_005430.4(WNT1):c.52G>A (p.Ala18Thr)	WNT1 (A18T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1444527	NM_005430.4(WNT1):c.52G>T (p.Ala18Ser)	WNT1 (A18S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984106	NM_005430.4(WNT1):c.80C>T (p.Ala27Val)	WNT1 (A27V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925077	NM_005430.4(WNT1):c.93T>C (p.Ser31=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957843	NM_005430.4(WNT1):c.98G>T (p.Arg33Leu)	WNT1 (R33L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2746657	NM_005430.4(WNT1):c.102G>A (p.Trp34Ter)	WNT1 (W34*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2169566	NM_005430.4(WNT1):c.104+1G>A	WNT1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 488347	NM_005430.4(WNT1):c.104+4_104+44del	WNT1	Deletion (intron variant)	Osteogenesis imperfecta type 15	GLikely pathogenic
Select item 1464591	NM_005430.4(WNT1):c.104+6T>C	WNT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1219896	NM_005430.4(WNT1):c.105-219C>G	WNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 747251	NM_005430.4(WNT1):c.105-6C>T	WNT1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3001146	NM_005430.4(WNT1):c.111T>C (p.Ile37=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2131059	NM_005430.4(WNT1):c.112G>A (p.Val38Met)	WNT1 (V38M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2203901	NM_005430.4(WNT1):c.118G>A (p.Val40Ile)	WNT1 (V40I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2991495	NM_005430.4(WNT1):c.119T>C (p.Val40Ala)	WNT1 (V40A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787524	NM_005430.4(WNT1):c.132G>A (p.Thr44=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3368589	NM_005430.4(WNT1):c.152A>G (p.Lys51Arg)	WNT1 (K51R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011196	NM_005430.4(WNT1):c.154A>G (p.Ser52Gly)	WNT1 (S52G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 746994	NM_005430.4(WNT1):c.159G>A (p.Leu53=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011262	NM_005430.4(WNT1):c.174G>T (p.Glu58Asp)	WNT1 (E58D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929717	NM_005430.4(WNT1):c.178A>T (p.Ser60Cys)	WNT1 (S60C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1443096	NM_005430.4(WNT1):c.179G>A (p.Ser60Asn)	WNT1 (S60N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974587	NM_005430.4(WNT1):c.196C>T (p.Arg66Cys)	WNT1 (R66C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3064878	NM_005430.4(WNT1):c.216dup (p.Arg73fs)	WNT1 (R73fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type 15	GUncertain significance
Select item 2903922	NM_005430.4(WNT1):c.227C>G (p.Pro76Arg)	WNT1 (P76R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744302	NM_005430.4(WNT1):c.237G>A (p.Leu79=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798924	NM_005430.4(WNT1):c.244G>C (p.Val82Leu)	WNT1 (V82L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438690	NM_005430.4(WNT1):c.255del (p.Leu86fs)	WNT1 (L86fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 15	GPathogenic
Select item 1500070	NM_005430.4(WNT1):c.250G>T (p.Gly84Trp)	WNT1 (G84W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906905	NM_005430.4(WNT1):c.251G>A (p.Gly84Glu)	WNT1 (G84E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1488744	NM_005430.4(WNT1):c.253G>A (p.Gly85Arg)	WNT1 (G85R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 714154	NM_005430.4(WNT1):c.255G>A (p.Gly85=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1305084	NM_005430.4(WNT1):c.258del (p.Gln87fs)	WNT1 (Q87fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 218673	NM_005430.4(WNT1):c.264T>A (p.Ser88Arg)	WNT1 (S88R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 15 +4 more	GBenign/Likely benign
Select item 1483183	NM_005430.4(WNT1):c.265G>A (p.Ala89Thr)	WNT1 (A89T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764713	NM_005430.4(WNT1):c.269T>C (p.Val90Ala)	WNT1 (V90A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1459965	NM_005430.4(WNT1):c.287_300del (p.Gln96fs)	WNT1 (Q96fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2795475	NM_005430.4(WNT1):c.287A>G (p.Gln96Arg)	WNT1 (Q96R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431488	NM_005430.4(WNT1):c.305G>C (p.Trp102Ser)	WNT1 (W102S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2113022	NM_005430.4(WNT1):c.315C>T (p.Pro105=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1586536	NM_005430.4(WNT1):c.318T>C (p.Thr106=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2434662	NM_005430.4(WNT1):c.331dup (p.His111fs)	WNT1 (H111fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type 15	GLikely pathogenic
Select item 2980584	NM_005430.4(WNT1):c.339C>T (p.Phe113=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1908273	NM_005430.4(WNT1):c.349G>A (p.Val117Ile)	WNT1 (V117I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010936	NM_005430.4(WNT1):c.350T>G (p.Val117Gly)	WNT1 (V117G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695227	NM_005430.4(WNT1):c.355C>A (p.Arg119=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018075	NM_005430.4(WNT1):c.358+5G>T	WNT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1647720	NM_005430.4(WNT1):c.358+13del	WNT1	Deletion (intron variant)	not provided	GLikely benign
Select item 2973209	NM_005430.4(WNT1):c.358+14A>C	WNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928220	NM_005430.4(WNT1):c.358+18_358+29del	WNT1	Deletion (intron variant)	not provided	GLikely benign
Select item 2849980	NM_005430.4(WNT1):c.358+17G>C	WNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933807	NM_005430.4(WNT1):c.359-13C>T	WNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 489252	NM_005430.4(WNT1):c.364C>T (p.Arg122Ter)	WNT1 (R122*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2169567	NM_005430.4(WNT1):c.371C>T (p.Thr124Met)	WNT1 (T124M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1952768	NM_005430.4(WNT1):c.375G>A (p.Ala125=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1471139	NM_005430.4(WNT1):c.384C>A (p.Phe128Leu)	WNT1 (F128L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336151	NM_005430.4(WNT1):c.397G>A (p.Ala133Thr)	WNT1 (A133T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 1419519	NM_005430.4(WNT1):c.403G>A (p.Val135Ile)	WNT1 (V135I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1376790	NM_005430.4(WNT1):c.409C>T (p.His137Tyr)	WNT1 (H137Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1578155	NM_005430.4(WNT1):c.414G>T (p.Ser138=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2754063	NM_005430.4(WNT1):c.422G>C (p.Arg141Pro)	WNT1 (R141P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785522	NM_005430.4(WNT1):c.429C>T (p.Cys143=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187671	NM_005430.4(WNT1):c.435A>G (p.Glu145=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3362448	NM_005430.4(WNT1):c.437G>A (p.Gly146Asp)	WNT1 (G146D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 15	GLikely pathogenic
Select item 2806973	NM_005430.4(WNT1):c.437G>T (p.Gly146Val)	WNT1 (G146V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1653486	NM_005430.4(WNT1):c.441C>T (p.Ser147=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1621235	NM_005430.4(WNT1):c.456G>T (p.Thr152=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 797105	NM_005430.4(WNT1):c.462C>T (p.Asp154=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1708283	NM_005430.4(WNT1):c.465C>A (p.Tyr155Ter)	WNT1 (Y155*)	Single nucleotide variant (nonsense)	See cases	GPathogenic
Select item 2189045	NM_005430.4(WNT1):c.466C>A (p.Arg156=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1312474	NM_005430.4(WNT1):c.467G>A (p.Arg156Gln)	WNT1 (R156Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388996	NM_005430.4(WNT1):c.479_480del (p.Pro160fs)	WNT1 (P160fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1224436	NM_005430.4(WNT1):c.480del (p.Gly162fs)	WNT1 (G162fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1627962	NM_005430.4(WNT1):c.480C>T (p.Pro160=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2235215	NM_005430.4(WNT1):c.485G>A (p.Gly162Asp)	WNT1 (G162D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1677332	NM_005430.4(WNT1):c.495G>T (p.Trp165Cys)	WNT1 (W165C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1371714	NM_005430.4(WNT1):c.499dup (p.Trp167fs)	WNT1 (W167fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1332774	NM_005430.4(WNT1):c.506dup (p.Cys170fs)	WNT1 (C170fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type 15 +2 more	GPathogenic
Select item 3336978	NM_005430.4(WNT1):c.506del (p.Gly169fs)	WNT1 (G169fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 684748	NM_005430.4(WNT1):c.501G>C (p.Trp167Cys)	WNT1 (W167C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1417150	NM_005430.4(WNT1):c.502G>C (p.Gly168Arg)	WNT1 (G168R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166133	NM_005430.4(WNT1):c.504G>C (p.Gly168=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2735848	NM_005430.4(WNT1):c.505G>T (p.Gly169Cys)	WNT1 (G169C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1212910	NM_005430.4(WNT1):c.506G>A (p.Gly169Asp)	WNT1 (G169D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2747951	NM_005430.4(WNT1):c.513C>G (p.Ser171Arg)	WNT1 (S171R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1497539	NM_005430.4(WNT1):c.514G>A (p.Asp172Asn)	WNT1 (D172N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 388128	NM_005430.4(WNT1):c.521T>C (p.Ile174Thr)	WNT1 (I174T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2061227	NM_005430.4(WNT1):c.528C>T (p.Phe176=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2735849	NM_005430.4(WNT1):c.529G>T (p.Gly177Cys)	WNT1 (G177C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1702073	NM_005430.4(WNT1):c.535C>T (p.Leu179Phe)	WNT1 (L179F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1502939	NM_005430.4(WNT1):c.541G>A (p.Gly181Ser)	WNT1 (G181S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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