150353[Gene ID] - ClinVar

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Items: 70

	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 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 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 148595	GRCh38/hg38 22q13.1-13.2(chr22:40431454-40934348)x3	DNAJB7, LOC112695096 +23 more	Copy number gain	See cases	GUncertain significance
Select item 146589	GRCh38/hg38 22q13.2(chr22:40732506-40892856)x3	DNAJB7, LOC130067522 +5 more	Copy number gain	See cases	GBenign
Select item 145112	GRCh38/hg38 22q13.2(chr22:40769910-41360090)x3	CHADL, DNAJB7 +32 more	Copy number gain	See cases	GUncertain significance
Select item 57634	GRCh38/hg38 22q13.2(chr22:40832364-41076954)x1	DNAJB7, LOC130067524 +6 more	Copy number loss	See cases	GPathogenic
Select item 57233	GRCh38/hg38 22q13.2(chr22:40860894-41306006)x3	CHADL, DNAJB7 +28 more	Copy number gain	See cases	GUncertain significance
Select item 3084417	NM_145174.2(DNAJB7):c.926G>C (p.Cys309Ser)	DNAJB7, XPNPEP3 (C309S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314863	NM_145174.2(DNAJB7):c.920G>A (p.Arg307Lys)	DNAJB7, XPNPEP3 (R307K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084416	NM_145174.2(DNAJB7):c.890G>A (p.Arg297His)	DNAJB7, XPNPEP3 (R297H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2605662	NM_145174.2(DNAJB7):c.877A>G (p.Lys293Glu)	DNAJB7, XPNPEP3 (K293E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084415	NM_145174.2(DNAJB7):c.869G>A (p.Gly290Asp)	DNAJB7, XPNPEP3 (G290D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317628	NM_145174.2(DNAJB7):c.841A>G (p.Ile281Val)	DNAJB7, XPNPEP3 (I281V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084414	NM_145174.2(DNAJB7):c.806G>A (p.Gly269Asp)	DNAJB7, XPNPEP3 (G269D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084413	NM_145174.2(DNAJB7):c.688G>A (p.Glu230Lys)	DNAJB7, XPNPEP3 (E230K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084412	NM_145174.2(DNAJB7):c.661T>G (p.Phe221Val)	DNAJB7, XPNPEP3 (F221V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273045	NM_145174.2(DNAJB7):c.643G>T (p.Asp215Tyr)	DNAJB7, XPNPEP3 (D215Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474349	NM_145174.2(DNAJB7):c.600T>A (p.Asn200Lys)	DNAJB7, XPNPEP3 (N200K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084410	NM_145174.2(DNAJB7):c.556T>C (p.Ser186Pro)	DNAJB7, XPNPEP3 (S186P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317588	NM_145174.2(DNAJB7):c.542T>C (p.Met181Thr)	DNAJB7, XPNPEP3 (M181T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467934	NM_145174.2(DNAJB7):c.496G>A (p.Glu166Lys)	DNAJB7, XPNPEP3 (E166K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533335	NM_145174.2(DNAJB7):c.490G>C (p.Gly164Arg)	DNAJB7, XPNPEP3 (G164R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298332	NM_145174.2(DNAJB7):c.442G>C (p.Glu148Gln)	DNAJB7, XPNPEP3 (E148Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084409	NM_145174.2(DNAJB7):c.410T>G (p.Phe137Cys)	DNAJB7, XPNPEP3 (F137C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456193	NM_145174.2(DNAJB7):c.368C>T (p.Pro123Leu)	DNAJB7, XPNPEP3 (P123L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3084408	NM_145174.2(DNAJB7):c.365G>A (p.Arg122His)	DNAJB7, XPNPEP3 (R122H)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3273043	NM_145174.2(DNAJB7):c.364C>G (p.Arg122Gly)	DNAJB7, XPNPEP3 (R122G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3084407	NM_145174.2(DNAJB7):c.308A>C (p.Glu103Ala)	DNAJB7, XPNPEP3 (E103A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2240095	NM_145174.2(DNAJB7):c.297A>C (p.Glu99Asp)	DNAJB7, XPNPEP3 (E99D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2273559	NM_145174.2(DNAJB7):c.283G>T (p.Asp95Tyr)	DNAJB7, XPNPEP3 (D95Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3084406	NM_145174.2(DNAJB7):c.275A>C (p.Lys92Thr)	DNAJB7, XPNPEP3 (K92T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2380467	NM_145174.2(DNAJB7):c.250T>C (p.Cys84Arg)	DNAJB7, XPNPEP3 (C84R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2525448	NM_145174.2(DNAJB7):c.246T>G (p.Asp82Glu)	DNAJB7, XPNPEP3 (D82E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273046	NM_145174.2(DNAJB7):c.239T>C (p.Phe80Ser)	DNAJB7, XPNPEP3 (F80S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223957	NM_145174.2(DNAJB7):c.197A>G (p.Asp66Gly)	DNAJB7, XPNPEP3 (D66G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273044	NM_145174.2(DNAJB7):c.185G>A (p.Arg62Gln)	DNAJB7, XPNPEP3 (R62Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1712364	NM_022098.4(XPNPEP3):c.64+4586dup	DNAJB7, XPNPEP3 (L56fs)	Duplication (frameshift variant +2 more)	Kidney disorder	GBenign
Select item 2605292	NM_145174.2(DNAJB7):c.160G>A (p.Glu54Lys)	DNAJB7, XPNPEP3 (E54K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2260224	NM_145174.2(DNAJB7):c.149C>G (p.Ala50Gly)	DNAJB7, XPNPEP3 (A50G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2397093	NM_145174.2(DNAJB7):c.123A>T (p.Glu41Asp)	DNAJB7, XPNPEP3 (E41D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2384091	NM_145174.2(DNAJB7):c.114T>G (p.Asn38Lys)	DNAJB7, XPNPEP3 (N38K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2338939	NM_145174.2(DNAJB7):c.51G>C (p.Glu17Asp)	DNAJB7, XPNPEP3 (E17D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2269693	NM_145174.2(DNAJB7):c.35G>A (p.Arg12Lys)	DNAJB7, XPNPEP3 (R12K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365386	NM_145174.2(DNAJB7):c.19G>A (p.Val7Ile)	DNAJB7, XPNPEP3 (V7I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3084403	NM_145174.2(DNAJB7):c.14A>G (p.Tyr5Cys)	DNAJB7, XPNPEP3 (Y5C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2406297	NM_145174.2(DNAJB7):c.5T>A (p.Val2Glu)	DNAJB7, XPNPEP3 (V2E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3247951	NC_000022.10:g.(?_39306081)_(41904073_?)dup	ACO2, ADSL +42 more	Duplication	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3062459	GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1	ADSL, CACNA1I +18 more	Copy number loss	not specified	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 2664506	GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3	ACO2, ADSL +25 more	Copy number gain	Syndromic craniosynostosis	GLikely pathogenic
Select item 2424165	NC_000022.10:g.(?_41074407)_(41489122_?)del	DNAJB7, EP300 +5 more	Deletion	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1809336	GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3	ACO2, ADSL +29 more	Copy number gain	not provided	GUncertain significance
Select item 1808635	GRCh37/hg19 22q13.1-13.2(chr22:40131240-41556564)x1	ADSL, DNAJB7 +12 more	Copy number loss	not provided	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 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816227	GRCh37/hg19 22q13.1-13.2(chr22:40665986-41370008)x3	MRTFA, SGSM3 +8 more	Copy number gain	not provided	GUncertain significance
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 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 393934	GRCh37/hg19 22q13.2(chr22:41223048-41278147)x3	DNAJB7, ST13 +1 more	Copy number gain	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

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Items: 70