ClinVar for Gene (Select 164684) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3189706	NM_152613.3(WBP2NL):c.89A>G (p.Glu30Gly)	WBP2NL (E30G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189705	NM_152613.3(WBP2NL):c.791C>T (p.Ala264Val)	WBP2NL (A264V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189704	NM_152613.3(WBP2NL):c.601G>A (p.Val201Ile)	WBP2NL (V201I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189703	NM_152613.3(WBP2NL):c.524A>G (p.Tyr175Cys)	WBP2NL (Y175C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189702	NM_152613.3(WBP2NL):c.382T>G (p.Leu128Val)	WBP2NL (L128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189701	NM_152613.3(WBP2NL):c.215C>A (p.Ser72Tyr)	WBP2NL (S72Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148861	GRCh37/hg19 22q13.2(chr22:41591000-42869987)x1	ACO2, CCDC134 +29 more	Copy number loss	not provided	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2622444	NM_152613.3(WBP2NL):c.694G>A (p.Gly232Arg)	WBP2NL (G232R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608715	NM_152613.3(WBP2NL):c.700C>T (p.Pro234Ser)	WBP2NL (P234S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598365	NM_152613.3(WBP2NL):c.196A>G (p.Ile66Val)	WBP2NL (I66V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2527741	NM_152613.3(WBP2NL):c.489G>A (p.Met163Ile)	WBP2NL (M163I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2522846	NM_152613.3(WBP2NL):c.410C>T (p.Ala137Val)	WBP2NL (A137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519309	NM_152613.3(WBP2NL):c.91C>T (p.Leu31Phe)	WBP2NL (L31F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519273	NM_152613.3(WBP2NL):c.242C>T (p.Thr81Met)	WBP2NL (T81M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488887	NM_152613.3(WBP2NL):c.860C>T (p.Ser287Phe)	WBP2NL (S287F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2391409	NM_152613.3(WBP2NL):c.925T>G (p.Ser309Ala)	WBP2NL (S309A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390745	NM_152613.3(WBP2NL):c.767C>T (p.Pro256Leu)	WBP2NL (P256L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378141	NM_152613.3(WBP2NL):c.886G>A (p.Glu296Lys)	WBP2NL (E296K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371704	NM_152613.3(WBP2NL):c.820A>G (p.Arg274Gly)	WBP2NL (R274G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356910	NM_152613.3(WBP2NL):c.806C>T (p.Pro269Leu)	WBP2NL (P269L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337514	NM_152613.3(WBP2NL):c.74G>A (p.Arg25Gln)	WBP2NL (R25Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332627	NM_152613.3(WBP2NL):c.803G>C (p.Gly268Ala)	WBP2NL (G268A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2254111	NM_152613.3(WBP2NL):c.14A>T (p.Gln5Leu)	WBP2NL (Q5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240186	NM_152613.3(WBP2NL):c.889G>C (p.Ala297Pro)	WBP2NL (A297P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1447656	NC_000022.10:g.(?_41277754)_(43089957_?)dup	CYB5R3, RANGAP1 +38 more	Duplication	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
Select item 997811	Single allele	WBP2NL, ARFGAP3 +21 more	Deletion	Intellectual disability	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979608	GRCh37/hg19 22q13.2(chr22:42158393-42409550)x3	SREBF2, MEI1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 901974	NM_000262.3(NAGA):c.*1930G>A	NAGA, WBP2NL	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GLikely benign
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 565011	GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3	NDUFA6, WBP2NL +21 more	Copy number gain	not provided	GLikely pathogenic
Select item 538825	NC_000022.11:g.(?_41301335)_(42070317_?)del	CENPM, CSDC2 +78 more	Deletion	Immunodeficiency, common variable, 4	GUncertain significance
Select item 443784	GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3	ACO2, CCDC134 +22 more	Copy number gain	See cases	GUncertain significance
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 341885	NM_000262.3(NAGA):c.*1929C>T	NAGA, WBP2NL	Single nucleotide variant (3 prime UTR variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GBenign
Select item 253756	GRCh37/hg19 22q13.2(chr22:42207144-42776457)x1	SMDT1, NDUFA6 +13 more	Copy number loss	See cases	GUncertain significance
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 147621	GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3	ACO2, CCDC134 +109 more	Copy number gain	See cases	GPathogenic
Select item 147321	GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1	LOC130067597, LOC130067598 +91 more	Copy number loss	See cases	GUncertain significance
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 56