26088[Gene ID] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 57630	GRCh38/hg38 22q12.3-13.1(chr22:36552376-37669915)x1	C1QTNF6, CACNG2 +93 more	Copy number loss	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
Select item 153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	ANKRD54, APOBEC3A +177 more	Copy number loss	See cases	GPathogenic
Select item 154588	GRCh38/hg38 22q13.1(chr22:37537317-37803357)x3	CDC42EP1, GGA1 +34 more	Copy number gain	See cases	GUncertain significance
Select item 2324374	NM_013365.5(GGA1):c.76G>A (p.Asp26Asn)	GGA1 (D26N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3099554	NM_013365.5(GGA1):c.92A>G (p.Asn31Ser)	GGA1 (N31S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554436	NM_013365.5(GGA1):c.121T>G (p.Phe41Val)	GGA1 (F41V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557862	NM_013365.5(GGA1):c.133C>G (p.Pro45Ala)	GGA1 (P45A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238696	NM_013365.5(GGA1):c.146G>A (p.Arg49Gln)	GGA1 (R49Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410783	NM_013365.5(GGA1):c.232G>A (p.Gly78Ser)	GGA1 (G95S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496453	NM_013365.5(GGA1):c.355C>G (p.Leu119Val)	GGA1 (L46V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619043	NM_013365.5(GGA1):c.382G>A (p.Glu128Lys)	GGA1 (E145K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376872	NM_013365.5(GGA1):c.449A>G (p.Lys150Arg)	GGA1 (K150R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099552	NM_013365.5(GGA1):c.457G>A (p.Asp153Asn)	GGA1 (D170N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359913	NM_013365.5(GGA1):c.473C>A (p.Pro158His)	GGA1 (P175H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553592	NM_013365.5(GGA1):c.475C>T (p.Leu159Phe)	GGA1 (L159F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593293	NM_013365.5(GGA1):c.735C>G (p.Ser245Arg)	GGA1 (S172R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530709	NM_013365.5(GGA1):c.764G>A (p.Arg255His)	GGA1 (R272H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099553	NM_013365.5(GGA1):c.851A>T (p.Asn284Ile)	GGA1 (N211I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335345	NM_013365.5(GGA1):c.913G>A (p.Gly305Ser)	GGA1 (G305S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214548	NM_013365.5(GGA1):c.928G>A (p.Gly310Ser)	GGA1 (G310S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360441	NM_013365.5(GGA1):c.1019G>A (p.Arg340His)	GGA1 (R357H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 730636	NM_013365.5(GGA1):c.1026C>T (p.Gly342=)	GGA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3099544	NM_013365.5(GGA1):c.1042G>A (p.Glu348Lys)	GGA1 (E275K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256979	NM_013365.5(GGA1):c.1072G>C (p.Asp358His)	GGA1 (D285H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099545	NM_013365.5(GGA1):c.1114C>G (p.Pro372Ala)	GGA1 (P285A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603492	NM_013365.5(GGA1):c.1114C>A (p.Pro372Thr)	GGA1 (P285T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099546	NM_013365.5(GGA1):c.1120G>T (p.Gly374Cys)	GGA1 (G287C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406265	NM_013365.5(GGA1):c.1184C>A (p.Ala395Asp)	GGA1 (A308D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099547	NM_013365.5(GGA1):c.1187C>T (p.Pro396Leu)	GGA1 (P323L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341782	NM_013365.5(GGA1):c.1229C>T (p.Ala410Val)	GGA1 (A410V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099548	NM_013365.5(GGA1):c.1251C>G (p.Ser417Arg)	GGA1 (S434R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358823	NM_013365.5(GGA1):c.1282A>G (p.Lys428Glu)	GGA1 (K355E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321083	NM_013365.5(GGA1):c.1286C>T (p.Thr429Ile)	GGA1 (T356I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368681	NM_013365.5(GGA1):c.1367G>A (p.Arg456Gln)	GGA1 (R452Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250935	NM_013365.5(GGA1):c.1447C>G (p.Pro483Ala)	GGA1 (P500A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099549	NM_013365.5(GGA1):c.1460C>T (p.Pro487Leu)	GGA1 (P400L +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517616	NM_013365.5(GGA1):c.1483C>T (p.Leu495Phe)	GGA1 (L422F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099550	NM_013365.5(GGA1):c.1507C>T (p.Pro503Ser)	GGA1 (P416S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336394	NM_013365.5(GGA1):c.1532A>G (p.Asn511Ser)	GGA1 (N424S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2547745	NM_013365.5(GGA1):c.1549G>A (p.Val517Met)	GGA1 (V517M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719838	NM_013365.5(GGA1):c.1599A>G (p.Pro533=)	GGA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780655	NM_013365.5(GGA1):c.1758C>T (p.Ile586=)	GGA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3099551	NM_013365.5(GGA1):c.1825C>T (p.Arg609Cys)	GGA1 (R522C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280355	NM_013365.5(GGA1):c.1859C>A (p.Thr620Asn)	GGA1 (T616N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594000	NM_013365.5(GGA1):c.1895C>G (p.Pro632Arg)	GGA1 (P545R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218876	NM_013365.5(GGA1):c.1895C>A (p.Pro632Gln)	GGA1 (P545Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306156	NM_013365.5(GGA1):c.1913G>A (p.Ser638Asn)	GGA1 (S638N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	H1-0, IFT27 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
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 816564	GRCh37/hg19 22q13.1(chr22:38002218-38973070)x1	SH3BP1, CSNK1E +25 more	Copy number loss	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 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 442777	GRCh37/hg19 22q13.1(chr22:37866631-39054815)x1	ANKRD54, BAIAP2L2 +31 more	Copy number loss	See cases	GPathogenic
Select item 442145	GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1	ANKRD54, BAIAP2L2 +41 more	Copy number loss	See cases	GPathogenic
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 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 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 221996	GRCh37/hg19 22q12.3-13.1(chr22:35680095-38098981)x1	APOL1, APOL2 +41 more	Copy number loss	See cases	GPathogenic

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Items: 67