11343[HGNC] - ClinVar

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Items: 55

	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 2290845	NM_003932.5(ST13):c.1106C>A (p.Ala369Glu)	ST13 (A369E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170587	NM_003932.5(ST13):c.1066A>C (p.Asn356His)	ST13 (N346H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170586	NM_003932.5(ST13):c.1021A>G (p.Asn341Asp)	ST13 (N331D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170592	NM_003932.5(ST13):c.980A>T (p.Gln327Leu)	ST13 (Q317L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293929	NM_003932.5(ST13):c.932C>G (p.Pro311Arg)	ST13 (P301R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300081	NM_003932.5(ST13):c.907G>A (p.Gly303Ser)	ST13 (G293S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224845	NM_003932.5(ST13):c.883G>A (p.Gly295Arg)	ST13 (G285R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299234	NM_003932.5(ST13):c.877T>C (p.Phe293Leu)	ST13 (F293L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714908	NM_003932.5(ST13):c.875A>G (p.Asn292Ser)	ST13 (N282S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3170590	NM_003932.5(ST13):c.758G>A (p.Arg253Gln)	ST13 (R243Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406163	NM_003932.5(ST13):c.752T>C (p.Ile251Thr)	ST13 (I241T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370869	NM_003932.5(ST13):c.736G>A (p.Glu246Lys)	ST13 (E236K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322912	NM_003932.5(ST13):c.734G>A (p.Arg245Gln)	ST13 (R235Q +1 more)	Single nucleotide variant (missense variant)	not specified	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 2303048	NM_003932.5(ST13):c.655G>A (p.Ala219Thr)	ST13 (A209T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529716	NM_003932.5(ST13):c.623C>G (p.Ala208Gly)	ST13 (A198G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612164	NM_003932.5(ST13):c.436C>G (p.Arg146Gly)	ST13 (R136G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277833	NM_003932.5(ST13):c.303T>G (p.Asp101Glu)	ST13 (D91E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251601	NM_003932.5(ST13):c.280G>A (p.Asp94Asn)	ST13 (D94N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465936	NM_003932.5(ST13):c.277A>G (p.Thr93Ala)	ST13 (T83A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391790	NM_003932.5(ST13):c.171A>T (p.Glu57Asp)	ST13 (E57D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322913	NM_003932.5(ST13):c.140A>G (p.Gln47Arg)	ST13 (Q47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297233	NM_003932.5(ST13):c.109A>C (p.Ser37Arg)	ST13 (S37R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170589	NM_003932.5(ST13):c.74C>T (p.Thr25Ile)	ST13 (T25I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260202	NM_003932.5(ST13):c.64G>T (p.Val22Phe)	ST13 (V22F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170588	NM_003932.5(ST13):c.10C>T (p.Arg4Cys)	ST13 (R4C)	Single nucleotide variant (missense variant)	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: 55