ClinVar for Gene (Select 4223) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294240	NM_005924.5(MEOX2):c.472G>A (p.Glu158Lys)	MEOX2 (E158K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294239	NM_005924.5(MEOX2):c.82G>T (p.Ala28Ser)	MEOX2 (A28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294238	NM_005924.5(MEOX2):c.547G>C (p.Val183Leu)	MEOX2 (V183L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294237	NM_005924.5(MEOX2):c.212A>G (p.His71Arg)	MEOX2 (H71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294236	NM_005924.5(MEOX2):c.98C>G (p.Ser33Cys)	MEOX2 (S33C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294235	NM_005924.5(MEOX2):c.650G>A (p.Arg217Gln)	MEOX2 (R217Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294234	NM_005924.5(MEOX2):c.451C>A (p.Arg151Ser)	MEOX2 (R151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125315	NM_005924.5(MEOX2):c.452G>T (p.Arg151Leu)	MEOX2 (R151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125314	NM_005924.5(MEOX2):c.43A>G (p.Thr15Ala)	MEOX2 (T15A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125313	NM_005924.5(MEOX2):c.433G>C (p.Ala145Pro)	MEOX2 (A145P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125312	NM_005924.5(MEOX2):c.35C>T (p.Pro12Leu)	MEOX2 (P12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125310	NM_005924.5(MEOX2):c.355G>A (p.Glu119Lys)	MEOX2 (E119K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 2684483	GRCh37/hg19 7p21.2-21.1(chr7:15334035-16571028)x3	AGMO, CRPPA +3 more	Copy number gain	not provided	GUncertain significance
Select item 2556283	NM_005924.5(MEOX2):c.273C>G (p.Asn91Lys)	MEOX2 (N91K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519754	NM_005924.5(MEOX2):c.253C>G (p.His85Asp)	MEOX2 (H85D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510335	NM_005924.5(MEOX2):c.813G>C (p.Glu271Asp)	MEOX2 (E271D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388429	NM_005924.5(MEOX2):c.839T>A (p.Leu280His)	MEOX2 (L280H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290823	NM_005924.5(MEOX2):c.149T>C (p.Ile50Thr)	MEOX2 (I50T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278252	NM_005924.5(MEOX2):c.844C>G (p.Gln282Glu)	MEOX2 (Q282E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255585	NM_005924.5(MEOX2):c.236A>C (p.His79Pro)	MEOX2 (H79P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224892	NM_005924.5(MEOX2):c.272A>G (p.Asn91Ser)	MEOX2 (N91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209668	NM_005924.5(MEOX2):c.493G>T (p.Gly165Cys)	MEOX2 (G165C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808922	GRCh37/hg19 7p21.2(chr7:15598056-16262103)x1	AGMO, CRPPA +1 more	Copy number loss	not provided	GUncertain significance
Select item 1808089	GRCh37/hg19 7p21.2-21.1(chr7:15639869-16963424)x3	AGR2, AGR3 +7 more	Copy number gain	not provided	GUncertain significance
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 1527339	GRCh37/hg19 7p21.2(chr7:14574208-15833180)	AGMO, DGKB +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527335	GRCh37/hg19 7p21.3-15.3(chr7:9358316-20982082)	ABCB5, AGMO +29 more	Copy number loss	not specified	GPathogenic
Select item 1341133	GRCh37/hg19 7p21.3-21.1(chr7:7909867-17213072)x1	AGMO, AGR2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 981203	GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1	AGMO, AGR2 +19 more	Copy number loss	Saethre-Chotzen syndrome	GPathogenic
Select item 814934	GRCh37/hg19 7p21.2-21.1(chr7:13886653-20267202)x1	MEOX2, PRPS1L1 +19 more	Copy number loss	not provided	GPathogenic
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 686285	GRCh37/hg19 7p21.2(chr7:15586378-16252720)x3	AGMO, CRPPA +1 more	Copy number gain	not provided	GUncertain significance
Select item 563419	GRCh37/hg19 7p21.2-15.3(chr7:14544155-21719929)x3	AGR3, TSPAN13 +23 more	Copy number gain	not provided	GPathogenic
Select item 563401	GRCh37/hg19 7p21.2(chr7:14584596-16342834)x3	AGMO, CRPPA +2 more	Copy number gain	not provided	GUncertain significance
Select item 563372	GRCh37/hg19 7p21.2(chr7:15586378-16262103)x1	MEOX2, CRPPA +1 more	Copy number loss	not provided	GUncertain significance
Select item 443707	GRCh37/hg19 7p21.2-21.1(chr7:14675063-18907030)x1	AGMO, AGR2 +13 more	Copy number loss	See cases	GLikely pathogenic
Select item 442857	GRCh37/hg19 7p21.3-21.1(chr7:7660104-18400293)x3	AGMO, AGR2 +25 more	Copy number gain	See cases	GUncertain significance
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 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
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 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 154585	GRCh38/hg38 7p21.3-21.2(chr7:11122492-16479303)x1	AGMO, ARL4A +62 more	Copy number loss	See cases	GPathogenic
Select item 152252	GRCh38/hg38 7p21.2(chr7:15533812-15855669)x1	AGMO, LINC02587 +3 more	Copy number loss	See cases	GLikely benign
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ABCB5, AGMO +248 more	Copy number loss	See cases	GPathogenic
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 147793	GRCh38/hg38 7p21.2-21.1(chr7:13966197-18321354)x1	AGMO, AGR2 +59 more	Copy number loss	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	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 144255	GRCh38/hg38 7p21.2-21.1(chr7:14904894-16925094)x1	AGMO, AGR2 +23 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 58520	GRCh38/hg38 7p21.2-21.1(chr7:15133711-19642829)x1	AGMO, AGR2 +67 more	Copy number loss	See cases	GPathogenic
Select item 58518	GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1	AGMO, AGR2 +130 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

ClinVar

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Links from Gene

Items: 65