WNT2[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	ADAP1, ADCK2 +4736 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129389880, LOC129389881 +2213 more	Copy number gain	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 3024369	GRCh38/hg38 7q31.1-31.2(chr7:113604778-117643891)	LOC113219472, LOC113633876 +131 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic
Select item 145985	GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1	AASS, ANKRD7 +253 more	Copy number loss	See cases	GPathogenic
Select item 154392	GRCh38/hg38 7q31.1-31.31(chr7:114898882-117790123)x1	ASZ1, CAPZA2 +131 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 583430	NC_000007.13:g.(?_116339129)_(117144427_?)dup	LOC126860157, LOC126860158 +45 more	Duplication	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 2499643	GRCh38/hg38 7q31.2(chr7:116868268-117565389)	LOC111674478, LOC113219433 +42 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 719651	NM_003391.3(WNT2):c.1057A>G (p.Asn353Asp)	WNT2 (N353D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3190720	NM_003391.3(WNT2):c.997G>A (p.Ala333Thr)	WNT2 (A333T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190719	NM_003391.3(WNT2):c.959G>A (p.Arg320Gln)	WNT2 (R320Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190718	NM_003391.3(WNT2):c.955A>G (p.Thr319Ala)	WNT2 (T319A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411033	NM_003391.3(WNT2):c.913G>A (p.Glu305Lys)	WNT2 (E305K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774454	NM_003391.3(WNT2):c.792G>A (p.Thr264=)	WNT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2322199	NM_003391.3(WNT2):c.731T>C (p.Val244Ala)	WNT2 (V244A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190716	NM_003391.3(WNT2):c.689C>T (p.Thr230Met)	WNT2 (T230M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190715	NM_003391.3(WNT2):c.517G>T (p.Asp173Tyr)	WNT2 (D173Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256004	NM_003391.3(WNT2):c.506G>A (p.Arg169His)	WNT2 (R169H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246172	NM_003391.3(WNT2):c.418A>G (p.Lys140Glu)	WNT2 (K140E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204334	NM_003391.3(WNT2):c.317G>A (p.Arg106Gln)	WNT2 (R106Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306937	NM_003391.3(WNT2):c.203G>C (p.Gly68Ala)	WNT2 (G68A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525075	NM_003391.3(WNT2):c.187C>T (p.Arg63Cys)	WNT2 (R63C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190717	NM_003391.3(WNT2):c.88A>G (p.Met30Val)	WNT2 (M30V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245669	NC_000007.13:g.(?_116165117)_(117307162_?)del	ASZ1, CAPZA2 +8 more	Deletion	Cystic fibrosis	GPathogenic
Select item 2684504	GRCh37/hg19 7q31.2(chr7:116747524-116975763)x3	ST7, ST7-OT3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1687716	Single allele	FEZF1, GPR37 +38 more	Deletion	Delayed speech and language development	GLikely pathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1047873	GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694)	POT1, PTPRZ1 +35 more	Copy number loss	Short stature +2 more	GPathogenic
Select item 1040013	NC_000007.13:g.(?_116339139)_(117307162_?)del	ASZ1, CAPZA2 +7 more	Deletion	Renal cell carcinoma	GUncertain significance
Select item 832473	NC_000007.14:g.(?_116699075)_(117667118_?)del	CFTR, ASZ1 +7 more	Deletion	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 815014	GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	TMEM168, LAMB4 +59 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686057	GRCh37/hg19 7q31.1-31.31(chr7:107410314-117825549)x1	ASZ1, BMT2 +34 more	Copy number loss	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563410	GRCh37/hg19 7q31.2-31.31(chr7:115520087-118098306)x1	CAV2, TFEC +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 443601	GRCh37/hg19 7q31.1-31.31(chr7:113764678-117694762)x3	ASZ1, CAPZA2 +14 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 253455	GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1	AASS, RNU2-1 +57 more	Copy number loss	See cases	GPathogenic

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Items: 46