5100[HGNC] - ClinVar

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Items: 77

	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 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +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 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 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 58544	GRCh38/hg38 7p15.2(chr7:27154807-27422335)x1	EVX1, EVX1-AS +15 more	Copy number loss	See cases	GPathogenic
Select item 3056353	NM_018951.4(HOXA10):c.1203G>A (p.Arg401=)	HOXA10, HOXA10-HOXA9	Single nucleotide variant (synonymous variant +1 more)	HOXA10-related disorder	GBenign
Select item 3106542	NM_018951.4(HOXA10):c.1167G>A (p.Met389Ile)	HOXA10, HOXA10-HOXA9 (M389I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268963	NM_018951.4(HOXA10):c.1135C>G (p.Gln379Glu)	HOXA10, HOXA10-HOXA9 (Q379E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3035569	NM_018951.4(HOXA10):c.958+9G>T	HOXA10, HOXA10-HOXA9	Single nucleotide variant (intron variant)	HOXA10-related disorder	GBenign
Select item 2459077	NM_018951.4(HOXA10):c.938C>T (p.Ser313Leu)	HOXA10, HOXA10-HOXA9 (S313L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284626	NM_018951.4(HOXA10):c.930C>G (p.Ser310Arg)	HOXA10, HOXA10-HOXA9 (S310R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460596	NM_018951.4(HOXA10):c.913G>A (p.Ala305Thr)	HOXA10, HOXA10-HOXA9 (A305T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339677	NM_018951.4(HOXA10):c.910C>T (p.Pro304Ser)	HOXA10, HOXA10-HOXA9 (P304S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342277	NM_018951.4(HOXA10):c.847G>T (p.Gly283Cys)	HOXA10, HOXA10-HOXA9 (G283C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042964	NM_018951.4(HOXA10):c.825C>G (p.Pro275=)	HOXA10, HOXA10-HOXA9	Single nucleotide variant (synonymous variant)	HOXA10-related disorder	GLikely benign
Select item 2366336	NM_018951.4(HOXA10):c.805G>T (p.Ala269Ser)	HOXA10, HOXA10-HOXA9 (A269S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609863	NM_018951.4(HOXA10):c.803G>A (p.Arg268Gln)	HOXA10, HOXA10-HOXA9 (R268Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357940	NM_018951.4(HOXA10):c.803G>C (p.Arg268Pro)	HOXA10, HOXA10-HOXA9 (R268P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374529	NM_018951.4(HOXA10):c.793C>G (p.Arg265Gly)	HOXA10, HOXA10-HOXA9 (R265G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284625	NM_018951.4(HOXA10):c.786T>G (p.Asp262Glu)	HOXA10, HOXA10-HOXA9 (D262E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410821	NM_018951.4(HOXA10):c.784G>A (p.Asp262Asn)	HOXA10, HOXA10-HOXA9 (D262N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312250	NM_018951.4(HOXA10):c.742C>A (p.Arg248Ser)	HOXA10, HOXA10-HOXA9 (R248S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049459	NM_018951.4(HOXA10):c.738G>T (p.Pro246=)	HOXA10, HOXA10-HOXA9	Single nucleotide variant (synonymous variant)	HOXA10-related disorder	GBenign
Select item 3106548	NM_018951.4(HOXA10):c.737C>T (p.Pro246Leu)	HOXA10, HOXA10-HOXA9 (P246L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039306	NM_018951.4(HOXA10):c.699G>T (p.Ala233=)	HOXA10, HOXA10-HOXA9	Single nucleotide variant (synonymous variant)	HOXA10-related disorder	GBenign
Select item 3284622	NM_018951.4(HOXA10):c.698C>T (p.Ala233Val)	HOXA10, HOXA10-HOXA9 (A233V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106547	NM_018951.4(HOXA10):c.686G>A (p.Gly229Asp)	HOXA10, HOXA10-HOXA9 (G229D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106546	NM_018951.4(HOXA10):c.670A>G (p.Lys224Glu)	HOXA10, HOXA10-HOXA9 (K224E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052831	NM_018951.4(HOXA10):c.669C>T (p.Ala223=)	HOXA10, HOXA10-HOXA9	Single nucleotide variant (synonymous variant)	HOXA10-related disorder	GLikely benign
Select item 2410892	NM_018951.4(HOXA10):c.661G>C (p.Gly221Arg)	HOXA10, HOXA10-HOXA9 (G221R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372050	NM_018951.4(HOXA10):c.619G>T (p.Gly207Trp)	HOXA10, HOXA10-HOXA9 (G207W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477004	NM_018951.4(HOXA10):c.601G>T (p.Ala201Ser)	HOXA10, HOXA10-HOXA9 (A201S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603300	NM_018951.4(HOXA10):c.592G>A (p.Asp198Asn)	HOXA10, HOXA10-HOXA9 (D198N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313180	NM_018951.4(HOXA10):c.581G>A (p.Gly194Asp)	HOXA10, HOXA10-HOXA9 (G194D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284623	NM_018951.4(HOXA10):c.577C>T (p.Arg193Trp)	HOXA10, HOXA10-HOXA9 (R193W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044896	NM_018951.4(HOXA10):c.546G>T (p.Ser182=)	HOXA10, HOXA10-HOXA9	Single nucleotide variant (synonymous variant)	HOXA10-related disorder	GLikely benign
Select item 3106545	NM_018951.4(HOXA10):c.526G>A (p.Asp176Asn)	HOXA10, HOXA10-HOXA9 (D176N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522395	NM_018951.4(HOXA10):c.455C>A (p.Pro152Gln)	HOXA10, HOXA10-HOXA9 (P152Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250459	NM_018951.4(HOXA10):c.419A>C (p.Gln140Pro)	HOXA10-HOXA9, HOXA10 (Q140P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384475	NM_018951.4(HOXA10):c.413A>C (p.Gln138Pro)	HOXA10, HOXA10-HOXA9 (Q138P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284624	NM_018951.4(HOXA10):c.400C>T (p.Pro134Ser)	HOXA10, HOXA10-HOXA9 (P134S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 714346	NM_018951.4(HOXA10):c.364C>T (p.Pro122Ser)	HOXA10, HOXA10-HOXA9 (P122S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2601723	NM_018951.4(HOXA10):c.281C>A (p.Pro94Gln)	HOXA10, HOXA10-HOXA9 (P94Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3047584	NM_018951.4(HOXA10):c.210C>T (p.Asp70=)	HOXA10, HOXA10-HOXA9	Single nucleotide variant (synonymous variant)	HOXA10-related disorder	GLikely benign
Select item 1684802	NM_018951.4(HOXA10):c.170A>G (p.Tyr57Cys)	HOXA10, HOXA10-HOXA9 (Y57C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047042	NM_018951.4(HOXA10):c.135_155del (p.42AGGGGGG[1])	HOXA10, HOXA10-HOXA9	Deletion	HOXA10-related disorder	GLikely benign
Select item 3106543	NM_018951.4(HOXA10):c.154G>T (p.Gly52Cys)	HOXA10, HOXA10-HOXA9 (G52C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387791	NM_018951.4(HOXA10):c.149G>A (p.Gly50Glu)	HOXA10, HOXA10-HOXA9 (G50E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043254	NM_018951.4(HOXA10):c.99G>T (p.Ser33=)	HOXA10, HOXA10-HOXA9	Single nucleotide variant (synonymous variant)	HOXA10-related disorder	GLikely benign
Select item 2508455	NM_018951.4(HOXA10):c.20A>G (p.Tyr7Cys)	HOXA10, HOXA10-HOXA9 (Y7C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106544	NM_018951.4(HOXA10):c.16G>A (p.Gly6Ser)	HOXA10, HOXA10-HOXA9 (G6S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245865	NC_000007.13:g.(?_26232136)_(28172587_?)del	CBX3, EVX1 +22 more	Deletion	not provided	GPathogenic
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 1809379	GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1	ADCYAP1R1, AQP1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1808748	GRCh37/hg19 7p15.2-15.1(chr7:26418391-28323299)x3	EVX1, HIBADH +19 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 1703687	GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069)	ADCYAP1R1, AQP1 +55 more	Copy number loss	Cyclical vomiting syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
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 814947	GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1	FKBP14, HNRNPA2B1 +61 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 599189	NC_000007.13:g.23236782_30690453del7453672	NFE2L3, NOD1 +53 more	Deletion	Silver Russell Syndrome-related disorder	GPathogenic
Select item 443815	GRCh37/hg19 7p15.3-14.3(chr7:24344104-28879357)x1	CBX3, CREB5 +31 more	Copy number loss	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 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 395288	GRCh37/hg19 7p15.3-15.2(chr7:25448425-27578387)x3	CBX3, EVX1 +22 more	Copy number gain	See cases	GLikely pathogenic
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 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 more	Copy number loss	See cases	GPathogenic
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: 77