6306[HGNC] - ClinVar

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Items: 43

	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 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 57632	GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1	ANKRD54, BAIAP2L2 +122 more	Copy number loss	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 2339259	NM_006855.4(KDELR3):c.8T>C (p.Val3Ala)	KDELR3 (V3A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287866	NM_006855.4(KDELR3):c.38T>C (p.Leu13Pro)	KDELR3 (L13P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599293	NM_006855.4(KDELR3):c.115C>G (p.Leu39Val)	KDELR3 (L39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306423	NM_006855.4(KDELR3):c.127G>C (p.Val43Leu)	KDELR3 (V43L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113684	NM_006855.4(KDELR3):c.182C>T (p.Thr61Ile)	KDELR3 (T61I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113685	NM_006855.4(KDELR3):c.196G>T (p.Val66Phe)	KDELR3 (V66F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474668	NM_006855.4(KDELR3):c.205C>T (p.Leu69Phe)	KDELR3 (L69F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212792	NM_006855.4(KDELR3):c.227A>G (p.Tyr76Cys)	KDELR3 (Y76C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113686	NM_006855.4(KDELR3):c.248G>A (p.Arg83His)	KDELR3 (R83H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113687	NM_006855.4(KDELR3):c.370A>T (p.Ile124Phe)	KDELR3 (I124F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287867	NM_006855.4(KDELR3):c.503G>T (p.Arg168Met)	KDELR3 (R168M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113688	NM_006855.4(KDELR3):c.544G>A (p.Val182Met)	KDELR3 (V182M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293986	NM_006855.4(KDELR3):c.551G>T (p.Gly184Val)	KDELR3 (G184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287864	NM_006855.4(KDELR3):c.574T>C (p.Cys192Arg)	KDELR3 (C192R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623981	NM_006855.4(KDELR3):c.575G>A (p.Cys192Tyr)	KDELR3 (C192Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287865	NM_006855.4(KDELR3):c.604+28A>G	KDELR3 (D211G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2204837	NM_006855.4(KDELR3):c.604+31C>G	KDELR3 (T212S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 711782	NM_006855.4(KDELR3):c.604+58A>C	KDELR3	Single nucleotide variant (stop lost +1 more)	not provided	GBenign
Select item 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	ANKRD54, BAIAP2L2 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2423540	NC_000022.10:g.(?_38097373)_(39306081_?)del	ANKRD54, BAIAP2L2 +29 more	Deletion	not provided	GPathogenic
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 816479	GRCh37/hg19 22q13.1(chr22:38431917-39392250)x1	NPTXR, FAM227A +20 more	Copy number loss	See cases	GLikely pathogenic
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 638097	GRCh37/hg19 22q13.1(chr22:38838246-39260032)x1	CBY1, DDX17 +10 more	Copy number loss	See cases	GUncertain significance
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 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 395465	GRCh37/hg19 22q13.1(chr22:38322968-38965458)	BAIAP2L2, C22orf23 +13 more	Copy number gain	See cases	GLikely pathogenic
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

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Items: 43