ClinVar for Gene (Select 7484) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3190767	NM_003396.3(WNT9B):c.952C>T (p.Arg318Trp)	LRRC37A2, WNT9B (R318W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3190766	NM_003396.3(WNT9B):c.811A>G (p.Thr271Ala)	LRRC37A2, WNT9B (T271A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3190765	NM_003396.3(WNT9B):c.214C>T (p.Pro72Ser)	LRRC37A2, WNT9B (P72S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056815	NM_001320458.2(WNT9B):c.961G>A (p.Ala321Thr)	WNT9B, LRRC37A2 (A321T)	Single nucleotide variant (missense variant)	WNT9B-related condition	GBenign
Select item 3050896	NM_001320458.2(WNT9B):c.905-4G>A	LRRC37A2, WNT9B	Single nucleotide variant (intron variant)	WNT9B-related condition	GLikely benign
Select item 3046360	NM_003396.3(WNT9B):c.290G>A (p.Arg97His)	LRRC37A2, WNT9B (R97H)	Single nucleotide variant (missense variant)	WNT9B-related condition	GLikely benign
Select item 3045723	NM_003396.3(WNT9B):c.135G>C (p.Pro45=)	LRRC37A2, WNT9B	Single nucleotide variant (synonymous variant)	WNT9B-related condition	GLikely benign
Select item 3044329	NM_001320458.2(WNT9B):c.912T>C (p.Ser304=)	LRRC37A2, WNT9B	Single nucleotide variant (synonymous variant)	WNT9B-related condition	GLikely benign
Select item 3040481	NM_001320458.2(WNT9B):c.963G>A (p.Ala321=)	LRRC37A2, WNT9B	Single nucleotide variant (synonymous variant)	WNT9B-related condition	GLikely benign
Select item 3040399	NM_003396.3(WNT9B):c.335-7G>C	LRRC37A2, WNT9B	Single nucleotide variant (intron variant)	WNT9B-related condition	GLikely benign
Select item 3039182	NM_001320458.2(WNT9B):c.981G>T (p.Leu327=)	LRRC37A2, WNT9B	Single nucleotide variant (synonymous variant)	WNT9B-related condition	GBenign
Select item 3034713	NM_001320458.2(WNT9B):c.905-5C>T	LRRC37A2, WNT9B	Single nucleotide variant (intron variant)	WNT9B-related condition	GBenign
Select item 3019826	NM_003396.3(WNT9B):c.875G>A (p.Arg292Gln)	LRRC37A2, WNT9B (R292Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958570	NM_003396.3(WNT9B):c.375C>T (p.Ala125=)	LRRC37A2, WNT9B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908065	NM_003396.3(WNT9B):c.188G>A (p.Arg63Gln)	LRRC37A2, WNT9B (R63Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901243	NM_003396.3(WNT9B):c.588C>T (p.His196=)	LRRC37A2, WNT9B	Single nucleotide variant (synonymous variant)	WNT9B-related condition +1 more	GLikely benign
Select item 2900610	NM_003396.3(WNT9B):c.597C>G (p.Ile199Met)	LRRC37A2, WNT9B (I199M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815127	NM_003396.3(WNT9B):c.4C>A (p.Arg2Ser)	LRRC37A2, WNT9B (R2S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721252	NM_003396.3(WNT9B):c.974G>A (p.Arg325His)	LRRC37A2, WNT9B (R325H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2721024	NM_003396.3(WNT9B):c.565C>T (p.Arg189Trp)	LRRC37A2, WNT9B (R189W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2713522	NM_003396.3(WNT9B):c.766T>C (p.Leu256=)	LRRC37A2, WNT9B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647871	NM_003396.3(WNT9B):c.85G>A (p.Gly29Arg)	LRRC37A2, WNT9B (G29R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2620950	NM_003396.3(WNT9B):c.416G>A (p.Arg139His)	LRRC37A2, WNT9B (R139H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611258	NM_003396.3(WNT9B):c.320G>T (p.Gly107Val)	LRRC37A2, WNT9B (G107V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605575	NM_003396.3(WNT9B):c.668C>T (p.Thr223Ile)	LRRC37A2, WNT9B (T223I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599681	NM_003396.3(WNT9B):c.808C>T (p.Leu270Phe)	LRRC37A2, WNT9B (L270F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539571	NM_003396.3(WNT9B):c.650G>T (p.Gly217Val)	LRRC37A2, WNT9B (G217V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506553	GRCh37/hg19 17q21.32(chr17:44949883-46507482)	EFCAB13, GOSR2 +24 more	Copy number gain	PNPO-related disorders	GLikely pathogenic
Select item 2425053	NC_000017.10:g.(?_44845686)_(45016126_?)dup	GOSR2, WNT3 +1 more	Duplication	Progressive myoclonic epilepsy	GUncertain significance
Select item 2334045	NM_003396.3(WNT9B):c.680A>T (p.Gln227Leu)	LRRC37A2, WNT9B (Q227L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306650	NM_003396.3(WNT9B):c.985T>C (p.Phe329Leu)	LRRC37A2, WNT9B (F329L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2193538	NM_003396.3(WNT9B):c.573C>T (p.Asp191=)	LRRC37A2, WNT9B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2192617	NM_003396.3(WNT9B):c.423G>A (p.Glu141=)	LRRC37A2, WNT9B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2165273	NM_003396.3(WNT9B):c.398G>A (p.Arg133Gln)	LRRC37A2, WNT9B (R133Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2124886	NM_003396.3(WNT9B):c.376G>A (p.Ala126Thr)	LRRC37A2, WNT9B (A126T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2102161	NM_003396.3(WNT9B):c.405C>G (p.Cys135Trp)	LRRC37A2, WNT9B (C135W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101874	NM_003396.3(WNT9B):c.179T>G (p.Leu60Arg)	LRRC37A2, WNT9B (L60R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074651	NM_003396.3(WNT9B):c.454G>A (p.Glu152Lys)	WNT9B, LRRC37A2 (E152K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060089	NM_003396.3(WNT9B):c.731C>T (p.Ser244Leu)	LRRC37A2, WNT9B (S244L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2055590	NM_003396.3(WNT9B):c.594C>T (p.Gly198=)	LRRC37A2, WNT9B	Single nucleotide variant (synonymous variant)	WNT9B-related condition +1 more	GBenign/Likely benign
Select item 2050448	NM_003396.3(WNT9B):c.701C>T (p.Thr234Met)	LRRC37A2, WNT9B (T234M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2034051	NM_003396.3(WNT9B):c.234G>A (p.Leu78=)	LRRC37A2, WNT9B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914203	NM_003396.3(WNT9B):c.461G>C (p.Arg154Pro)	LRRC37A2, WNT9B (R154P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1652936	NM_003396.3(WNT9B):c.522C>A (p.Ser174Arg)	LRRC37A2, WNT9B (S174R)	Single nucleotide variant (missense variant)	WNT9B-related condition +1 more	GBenign/Likely benign
Select item 1632396	NM_003396.3(WNT9B):c.135G>A (p.Pro45=)	LRRC37A2, WNT9B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1623374	NM_003396.3(WNT9B):c.281G>A (p.Arg94Gln)	LRRC37A2, WNT9B (R94Q)	Single nucleotide variant (missense variant)	WNT9B-related condition +1 more	GBenign
Select item 1601409	NM_003396.3(WNT9B):c.144C>T (p.Gly48=)	LRRC37A2, WNT9B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1598961	NM_003396.3(WNT9B):c.846G>C (p.Val282=)	LRRC37A2, WNT9B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1598959	NM_003396.3(WNT9B):c.317T>C (p.Met106Thr)	LRRC37A2, WNT9B (M106T)	Single nucleotide variant (missense variant)	WNT9B-related condition +1 more	GBenign
Select item 1598579	NM_003396.3(WNT9B):c.140A>G (p.Gln47Arg)	LRRC37A2, WNT9B (Q47R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1586858	NM_003396.3(WNT9B):c.589G>A (p.Val197Met)	LRRC37A2, WNT9B (V197M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1578578	NM_003396.3(WNT9B):c.399G>T (p.Arg133=)	LRRC37A2, WNT9B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1570482	NM_003396.3(WNT9B):c.162G>A (p.Gln54=)	LRRC37A2, WNT9B	Single nucleotide variant (synonymous variant)	WNT9B-related condition +1 more	GLikely benign
Select item 1458379	NC_000017.10:g.(?_44845686)_(45016126_?)del	GOSR2, WNT3 +1 more	Deletion	Progressive myoclonic epilepsy	GPathogenic
Select item 1424456	NM_003396.3(WNT9B):c.389C>A (p.Thr130Asn)	LRRC37A2, WNT9B (T130N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1382363	NM_003396.3(WNT9B):c.665G>A (p.Arg222His)	LRRC37A2, WNT9B (R222H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378190	NM_003396.3(WNT9B):c.661G>A (p.Val221Met)	LRRC37A2, WNT9B (V221M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1362209	NM_003396.3(WNT9B):c.665G>T (p.Arg222Leu)	LRRC37A2, WNT9B (R222L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1344867	NM_003396.3(WNT9B):c.11dup (p.Pro5fs)	LRRC37A2, WNT9B (P5fs)	Duplication (frameshift variant)	Renal dysplasia +2 more	GLikely pathogenic
Select item 1344866	NM_003396.3(WNT9B):c.949G>A (p.Gly317Arg)	LRRC37A2, WNT9B (G317R)	Single nucleotide variant (missense variant +1 more)	Cystic renal dysplasia +1 more	GLikely pathogenic
Select item 1170818	NM_003396.3(WNT9B):c.773G>A (p.Arg258His)	LRRC37A2, WNT9B (R258H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789093	NM_003396.3(WNT9B):c.168C>T (p.Asp56=)	LRRC37A2, WNT9B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784358	NM_003396.3(WNT9B):c.627G>A (p.Thr209=)	LRRC37A2, WNT9B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 759357	NM_003396.3(WNT9B):c.414G>A (p.Gly138=)	LRRC37A2, WNT9B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 59307	GRCh38/hg38 17q21.31-21.32(chr17:46444520-46990403)x3	ARL17A, FAM215B +16 more	Copy number gain	See cases	GUncertain significance
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 70