"GeneDx"[submitter] AND "WNT1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 672350	NM_005430.3(WNT1):c.-347C>A	LOC130007808, WNT1	Single nucleotide variant	not provided	GBenign
Select item 1219896	NM_005430.4(WNT1):c.105-219C>G	WNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 489252	NM_005430.4(WNT1):c.364C>T (p.Arg122Ter)	WNT1 (R122*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 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 1212910	NM_005430.4(WNT1):c.506G>A (p.Gly169Asp)	WNT1 (G169D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 681130	NM_005430.4(WNT1):c.576G>A (p.Arg192=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 453139	NM_005430.4(WNT1):c.624G>A (p.Thr208=)	WNT1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1310806	NM_005430.4(WNT1):c.661C>T (p.His221Tyr)	WNT1 (H221Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305471	NM_005430.4(WNT1):c.673G>A (p.Gly225Ser)	WNT1 (G225S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309191	NM_005430.4(WNT1):c.730G>T (p.Asp244Tyr)	WNT1 (D244Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 627582	NM_005430.4(WNT1):c.754G>C (p.Gly252Arg)	WNT1 (G252R)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 3363636	NM_005430.4(WNT1):c.761C>A (p.Ser254Ter)	WNT1 (S254*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1208246	NM_005430.4(WNT1):c.793C>A (p.Arg265Ser)	WNT1 (R265S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 50260	NM_005430.4(WNT1):c.884C>A (p.Ser295Ter)	WNT1 (S295*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 1192187	NM_005430.4(WNT1):c.1007C>T (p.Thr336Met)	WNT1 (T336M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 391706	NM_005430.4(WNT1):c.1051T>G (p.Trp351Gly)	WNT1 (W351G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 524168	NM_005430.4(WNT1):c.1060_1061delinsG (p.His354fs)	WNT1 (H354fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 1195712	NM_005430.4(WNT1):c.*9G>A	WNT1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta +1 more	GConflicting classifications of pathogenicity
Select item 1193037	NM_005430.4(WNT1):c.*116G>A	WNT1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1218644	NM_005430.4(WNT1):c.*143A>G	WNT1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 25