24942[HGNC] - ClinVar

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Items: 37

	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 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 3212980	NM_052880.5(PIK3IP1):c.767G>A (p.Gly256Asp)	PIK3IP1 (G256D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3212979	NM_052880.5(PIK3IP1):c.760C>T (p.Leu254Phe)	PIK3IP1 (L254F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3212978	NM_052880.5(PIK3IP1):c.748G>A (p.Gly250Ser)	PIK3IP1 (G250S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3306619	NM_052880.5(PIK3IP1):c.745G>A (p.Glu249Lys)	PIK3IP1 (E249K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3212977	NM_052880.5(PIK3IP1):c.689T>C (p.Ile230Thr)	PIK3IP1 (I230T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2620853	NM_052880.5(PIK3IP1):c.686A>G (p.Glu229Gly)	PIK3IP1 (E229G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3212976	NM_052880.5(PIK3IP1):c.638T>C (p.Met213Thr)	PIK3IP1 (M213T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2681485	NM_052880.5(PIK3IP1):c.463C>T (p.Arg155Trp)	PIK3IP1 (R155W)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2282948	NM_052880.5(PIK3IP1):c.235G>A (p.Gly79Arg)	PIK3IP1 (G79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212974	NM_052880.5(PIK3IP1):c.190G>A (p.Ala64Thr)	PIK3IP1 (A64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259264	NM_052880.5(PIK3IP1):c.181G>C (p.Val61Leu)	LOC130067241, PIK3IP1 (V61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306620	NM_052880.5(PIK3IP1):c.43C>A (p.Leu15Ile)	PIK3IP1 (L15I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250889	NM_052880.5(PIK3IP1):c.36C>A (p.Ser12Arg)	PIK3IP1 (S12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255392	NM_052880.5(PIK3IP1):c.35G>A (p.Ser12Asn)	PIK3IP1 (S12N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212975	NM_052880.5(PIK3IP1):c.25T>C (p.Phe9Leu)	PIK3IP1 (F9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362133	NM_052880.5(PIK3IP1):c.14G>T (p.Trp5Leu)	PIK3IP1 (W5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	AP1B1, ASCC2 +71 more	Duplication	not provided	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 979603	GRCh37/hg19 22q12.2(chr22:31565901-32105115)x1	LIMK2, PISD +7 more	Copy number loss	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 634999	inv(22)(q12.2q12.2)	NEFH, PIK3IP1 +42 more	Inversion	Anaplastic ependymoma	GLikely pathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	DEPDC5, DRG1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	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 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: 37