ClinVar for Gene (Select 7481) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333203	NM_004626.3(WNT11):c.983G>A (p.Arg328Gln)	WNT11 (R328Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333202	NM_004626.3(WNT11):c.971G>A (p.Arg324His)	WNT11 (R324H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190709	NM_004626.3(WNT11):c.962A>G (p.Tyr321Cys)	WNT11 (Y321C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190707	NM_004626.3(WNT11):c.182G>A (p.Ser61Asn)	WNT11 (S61N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047692	NM_004626.3(WNT11):c.198G>A (p.Met66Ile)	WNT11 (M66I)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GBenign
Select item 3033689	NM_004626.3(WNT11):c.339C>T (p.Phe113=)	WNT11	Single nucleotide variant (synonymous variant)	WNT11-related disorder	GLikely benign
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2595384	NM_004626.3(WNT11):c.919G>A (p.Asp307Asn)	WNT11 (D307N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550251	NM_004626.3(WNT11):c.568C>T (p.Arg190Cys)	WNT11 (R190C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546981	NM_004626.3(WNT11):c.661C>A (p.Arg221Ser)	WNT11 (R221S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538408	NM_004626.3(WNT11):c.427G>C (p.Val143Leu)	WNT11 (V143L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518635	NM_004626.3(WNT11):c.451G>A (p.Gly151Arg)	WNT11 (G151R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490176	NM_004626.3(WNT11):c.925T>A (p.Cys309Ser)	WNT11 (C309S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478015	NM_004626.3(WNT11):c.1049G>A (p.Arg350His)	WNT11 (R350H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477914	NM_004626.3(WNT11):c.799C>A (p.Pro267Thr)	WNT11 (P267T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476963	NM_004626.3(WNT11):c.76A>G (p.Lys26Glu)	WNT11 (K26E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473558	NM_004626.3(WNT11):c.754A>C (p.Met252Leu)	WNT11 (M252L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397360	NM_004626.3(WNT11):c.78G>C (p.Lys26Asn)	WNT11 (K26N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394684	NM_004626.3(WNT11):c.719G>A (p.Arg240Gln)	WNT11 (R240Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221658	NM_004626.3(WNT11):c.749G>A (p.Arg250Gln)	WNT11 (R250Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1339468	NM_004626.3(WNT11):c.922A>G (p.Ser308Gly)	WNT11 (S308G)	Single nucleotide variant (missense variant)	Hypospadias	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 791175	NM_004626.3(WNT11):c.813G>T (p.Ser271=)	WNT11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783636	NM_004626.3(WNT11):c.361G>A (p.Ala121Thr)	WNT11 (A121T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783635	NM_004626.3(WNT11):c.813G>A (p.Ser271=)	WNT11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 733914	NM_004626.3(WNT11):c.633C>T (p.Cys211=)	WNT11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 732191	NM_004626.3(WNT11):c.216C>T (p.Ala72=)	WNT11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 189352	NM_004626.3(WNT11):c.947G>A (p.Arg316His)	WNT11 (R316H)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 35