TOMM7[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 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	LOC121740684, LOC121740685 +4735 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 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 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 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 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 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ABCB5, AGMO +248 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 144726	GRCh38/hg38 7p15.3(chr7:22486980-23176403)x3	HYCC1, IL6 +23 more	Copy number gain	See cases	GUncertain significance
Select item 2405169	NM_019059.5(TOMM7):c.127G>A (p.Gly43Arg)	TOMM7 (G43R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181139	NM_019059.5(TOMM7):c.119C>G (p.Ala40Gly)	TOMM7 (A40G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2628316	NM_019059.5(TOMM7):c.86C>T (p.Pro29Leu)	TOMM7 (P29L)	Single nucleotide variant (missense variant)	Garg-Mishra progeroid syndrome	GPathogenic
Select item 1679423	NM_019059.5(TOMM7):c.73T>C (p.Trp25Arg)	TOMM7 (W25R)	Single nucleotide variant (missense variant)	See cases +1 more	GPathogenic/Likely pathogenic
Select item 2494950	NM_019059.5(TOMM7):c.26A>G (p.Lys9Arg)	TOMM7 (K9R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329713	NM_019059.5(TOMM7):c.23C>A (p.Ala8Asp)	TOMM7 (A8D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
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 2684484	GRCh37/hg19 7p15.3(chr7:22362299-23695195)x3	GPNMB, CCDC126 +12 more	Copy number gain	not provided	GUncertain significance
Select item 2424085	NC_000007.13:g.(?_20994491)_(23030730_?)del	CDCA7L, DNAH11 +7 more	Deletion	Primary ciliary dyskinesia +1 more	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 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527341	GRCh37/hg19 7p15.3(chr7:22574536-23357770)	GPNMB, HYCC1 +8 more	Copy number loss	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 1410399	NC_000007.13:g.(?_20994491)_(23213917_?)dup	CDCA7L, DNAH11 +9 more	Duplication	Primary ciliary dyskinesia	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 563359	GRCh37/hg19 7p15.3(chr7:22721417-23193605)x3	KLHL7, FAM126A +4 more	Copy number gain	not provided	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 253859	GRCh37/hg19 7p15.3(chr7:22766756-23053688)x1	IL6-AS1, FAM126A +2 more	Copy number loss	See cases	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 40