ClinVar for Gene (Select 11014) - ClinVar

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Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3113683	NM_006854.4(KDELR2):c.619A>C (p.Lys207Gln)	KDELR2 (K207Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113682	NM_006854.4(KDELR2):c.537T>G (p.Ile179Met)	KDELR2 (I179M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113681	NM_006854.4(KDELR2):c.397C>G (p.Pro133Ala)	KDELR2 (P133A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113680	NM_006854.4(KDELR2):c.343C>T (p.Pro115Ser)	KDELR2 (P115S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113679	NM_006854.4(KDELR2):c.180C>A (p.Asn60Lys)	KDELR2 (N60K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062958	GRCh37/hg19 7p22.1(chr7:6007649-6753402)x3	AIMP2, CYTH3 +14 more	Copy number gain	not specified	GUncertain significance
Select item 3047071	NM_006854.4(KDELR2):c.177_178del	KDELR2	Deletion (3 prime UTR variant)	KDELR2-related disorder	GLikely benign
Select item 3039978	NM_006854.4(KDELR2):c.*11C>T	KDELR2 (P133S)	Single nucleotide variant (missense variant +1 more)	KDELR2-related disorder	GLikely benign
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 2606155	NM_006854.4(KDELR2):c.65A>T (p.Lys22Met)	KDELR2, LOC129997936 (K22M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605602	NM_006854.4(KDELR2):c.508T>G (p.Phe170Val)	KDELR2 (F170V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531633	NM_006854.4(KDELR2):c.205G>A (p.Ala69Thr)	KDELR2 (A69T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529560	NM_006854.4(KDELR2):c.356T>C (p.Leu119Pro)	KDELR2 (L119P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484216	NM_006854.4(KDELR2):c.71G>C (p.Trp24Ser)	KDELR2, LOC129997936 (W24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455783	NM_006854.4(KDELR2):c.617A>G (p.Lys206Arg)	KDELR2 (R122G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368642	NM_006854.4(KDELR2):c.437C>A (p.Thr146Asn)	KDELR2 (T146N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294362	NM_006854.4(KDELR2):c.562A>T (p.Thr188Ser)	KDELR2 (T188S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216151	NM_006854.4(KDELR2):c.494A>G (p.Asn165Ser)	KDELR2 (N165S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1683644	NM_006854.4(KDELR2):c.505C>T (p.Arg169Cys)	KDELR2 (R169C)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta, type 21	GUncertain significance
Select item 1483586	NC_000007.13:g.(?_6026370)_(6744804_?)dup	DAGLB, EIF2AK1 +13 more	Duplication	not provided	GUncertain significance
Select item 1342395	NC_000007.14:g.5986941_6669974dup	AIMP2, ANKRD61 +57 more	Duplication	not provided	GUncertain significance
Select item 1278607	NM_006854.4(KDELR2):c.405A>G (p.Leu135=)	KDELR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1276164	NC_000007.14:g.6484383T>C	KDELR2	Single nucleotide variant	not provided	GBenign
Select item 1270758	NM_006854.4(KDELR2):c.192+36A>G	KDELR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267783	NC_000007.14:g.6484193C>T	KDELR2	Single nucleotide variant	not provided	GBenign
Select item 1119977	NM_006854.4(KDELR2):c.485A>G (p.Tyr162Cys)	KDELR2 (Y162C)	Single nucleotide variant (intron variant +1 more)	Osteogenesis imperfecta, type 21	GPathogenic
Select item 1119976	NM_006854.4(KDELR2):c.13C>T (p.Arg5Trp)	KDELR2, LOC129997936 (R5W)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, type 21	GPathogenic
Select item 988964	NM_006854.4(KDELR2):c.360G>A (p.Trp120Ter)	KDELR2 (W120*)	Single nucleotide variant (nonsense +1 more)	Osteogenesis imperfecta, type 21	GPathogenic
Select item 988963	NM_006854.4(KDELR2):c.398C>T (p.Pro133Leu)	KDELR2 (P133L)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta, type 21	GPathogenic
Select item 988962	NM_006854.4(KDELR2):c.34C>G (p.His12Asp)	KDELR2, LOC129997936 (H12D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 988961	NM_006854.4(KDELR2):c.448dup (p.His150fs)	KDELR2 (H150fs)	Duplication (frameshift variant +1 more)	Osteogenesis imperfecta, type 21	GPathogenic
Select item 980260	GRCh37/hg19 7p22.1(chr7:5919587-6762394)x3	DAGLB, EIF2AK1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 980259	GRCh37/hg19 7p22.1(chr7:6183858-7137555)x3	CYTH3, RAC1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 814926	GRCh37/hg19 7p22.1(chr7:6394921-6762394)x3	ZNF316, RAC1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 814924	GRCh37/hg19 7p22.1(chr7:6107516-6567122)x1	FAM220A, USP42 +5 more	Copy number loss	not provided	GUncertain significance
Select item 814914	GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3	ACTB, AIMP2 +54 more	Copy number gain	not provided	GPathogenic
Select item 688999	GRCh37/hg19 7p22.1(chr7:6290521-6535060)x3	CYTH3, DAGLB +3 more	Copy number gain	not provided	GUncertain significance
Select item 688365	GRCh37/hg19 7p22.1(chr7:6440248-6621886)x3	DAGLB, GRID2IP +3 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 685930	GRCh37/hg19 7p22.1(chr7:6517699-7294602)x3	C1GALT1, CCZ1B +8 more	Copy number gain	not provided	GUncertain significance
Select item 684887	GRCh37/hg19 7p22.1(chr7:6465815-6601692)x1	DAGLB, GRID2IP +1 more	Copy number loss	not provided	GUncertain significance
Select item 563411	GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3	ACTB, AIMP2 +33 more	Copy number gain	not provided	GPathogenic
Select item 563362	GRCh37/hg19 7p22.1(chr7:6037640-6540147)x3	AIMP2, CYTH3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 446329	GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3	AP5Z1, C1GALT1 +42 more	Copy number gain	See cases	GPathogenic
Select item 443404	GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3	ACTB, AIMP2 +30 more	Copy number gain	See cases	GLikely pathogenic
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	DAGLB, DNAAF5 +76 more	Copy number gain	See cases	GPathogenic
Select item 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic
Select item 253741	GRCh37/hg19 7p22.1(chr7:6202675-6579535)x3	GRID2IP, DAGLB +4 more	Copy number gain	See cases	GUncertain significance
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 154421	GRCh38/hg38 7p22.1(chr7:6257137-6575271)x1	CYTH3, DAGLB +28 more	Copy number loss	See cases	GUncertain significance
Select item 152093	GRCh38/hg38 7p22.1(chr7:6213720-6697571)x3	CYTH3, DAGLB +42 more	Copy number gain	See cases	GUncertain significance
Select item 150142	GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3	LINC03073, LOC106783574 +120 more	Copy number gain	See cases	GLikely pathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC126860263, LOC126860264 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 59565	GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3	ACTB, AIMP2 +119 more	Copy number gain	See cases	GUncertain significance
Select item 58498	GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1	LOC129997877, LOC129997878 +137 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 57254	GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1	C1GALT1, CCZ1B +131 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 75