KDELR3[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 43