28389[HGNC] - ClinVar

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

Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC112695092, LOC112695093 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067848, LOC130067849 +687 more	Copy number gain	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 538825	NC_000022.11:g.(?_41301335)_(42070317_?)del	LOC125446244, LOC130067573 +78 more	Deletion	Immunodeficiency, common variable, 4	GUncertain significance
Select item 147321	GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1	CCDC134, CENPM +91 more	Copy number loss	See cases	GUncertain significance
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	LOC130067673, LOC130067674 +580 more	Copy number loss	See cases	GPathogenic
Select item 2254111	NM_152613.3(WBP2NL):c.14A>T (p.Gln5Leu)	WBP2NL (Q5L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337514	NM_152613.3(WBP2NL):c.74G>A (p.Arg25Gln)	WBP2NL (R25Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2519309	NM_152613.3(WBP2NL):c.91C>T (p.Leu31Phe)	WBP2NL (L31F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598365	NM_152613.3(WBP2NL):c.196A>G (p.Ile66Val)	WBP2NL (I66V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2519273	NM_152613.3(WBP2NL):c.242C>T (p.Thr81Met)	WBP2NL (T81M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522846	NM_152613.3(WBP2NL):c.410C>T (p.Ala137Val)	WBP2NL (A137V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527741	NM_152613.3(WBP2NL):c.489G>A (p.Met163Ile)	WBP2NL (M163I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2622444	NM_152613.3(WBP2NL):c.694G>A (p.Gly232Arg)	WBP2NL (G232R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608715	NM_152613.3(WBP2NL):c.700C>T (p.Pro234Ser)	WBP2NL (P234S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390745	NM_152613.3(WBP2NL):c.767C>T (p.Pro256Leu)	WBP2NL (P256L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332627	NM_152613.3(WBP2NL):c.803G>C (p.Gly268Ala)	WBP2NL (G268A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2356910	NM_152613.3(WBP2NL):c.806C>T (p.Pro269Leu)	WBP2NL (P269L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2371704	NM_152613.3(WBP2NL):c.820A>G (p.Arg274Gly)	WBP2NL (R274G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488887	NM_152613.3(WBP2NL):c.860C>T (p.Ser287Phe)	WBP2NL (S287F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378141	NM_152613.3(WBP2NL):c.886G>A (p.Glu296Lys)	WBP2NL (E296K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240186	NM_152613.3(WBP2NL):c.889G>C (p.Ala297Pro)	WBP2NL (A297P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391409	NM_152613.3(WBP2NL):c.925T>G (p.Ser309Ala)	WBP2NL (S309A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	APOL2, APOL3 +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1447656	NC_000022.10:g.(?_41277754)_(43089957_?)dup	A4GALT, ACO2 +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 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 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)	A4GALT, ACO2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	C22orf15, C22orf23 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	SLC5A1, SLC5A4 +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
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

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: 49