ClinVar for Gene (Select 3203) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284644	NM_024014.4(HOXA6):c.668G>T (p.Ser223Ile)	HOXA-AS3, HOXA3 +1 more (S223I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284643	NM_024014.4(HOXA6):c.558C>G (p.Ile186Met)	HOXA-AS3, HOXA3 +1 more (I186M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245865	NC_000007.13:g.(?_26232136)_(28172587_?)del	CBX3, EVX1 +22 more	Deletion	not provided	GPathogenic
Select item 3106595	NM_024014.4(HOXA6):c.616C>G (p.Arg206Gly)	HOXA-AS3, HOXA3 +1 more (R206G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106594	NM_024014.4(HOXA6):c.559G>A (p.Glu187Lys)	HOXA-AS3, HOXA3 +1 more (E187K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106593	NM_024014.4(HOXA6):c.395A>G (p.Tyr132Cys)	HOXA-AS3, HOXA3 +1 more (Y132C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3106592	NM_024014.4(HOXA6):c.293G>A (p.Gly98Asp)	HOXA-AS3, HOXA3 +1 more (G98D)	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 2532101	NM_024014.4(HOXA6):c.652A>G (p.Asn218Asp)	HOXA-AS3, HOXA3 +1 more (N218D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490565	NM_024014.4(HOXA6):c.670G>T (p.Gly224Trp)	HOXA-AS3, HOXA3 +1 more (G224W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392560	NM_024014.4(HOXA6):c.491G>T (p.Arg164Leu)	HOXA-AS3, HOXA3 +1 more (R164L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380150	NM_024014.4(HOXA6):c.676G>A (p.Asp226Asn)	HOXA-AS3, HOXA3 +1 more (D226N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354607	NM_024014.4(HOXA6):c.490C>T (p.Arg164Cys)	HOXA-AS3, HOXA3 +1 more (R164C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335986	NM_024014.4(HOXA6):c.402C>A (p.Ser134Arg)	HOXA-AS3, HOXA3 +1 more (S134R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2332347	NM_024014.4(HOXA6):c.217G>C (p.Glu73Gln)	HOXA-AS3, HOXA3 +1 more (E73Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323430	NM_024014.4(HOXA6):c.110C>A (p.Pro37His)	HOXA-AS3, HOXA3 +1 more (P37H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309313	NM_024014.4(HOXA6):c.502C>A (p.Leu168Met)	HOXA-AS3, HOXA3 +1 more (L168M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289764	NM_024014.4(HOXA6):c.656C>T (p.Ser219Phe)	HOXA-AS3, HOXA3 +1 more (S219F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250608	NM_024014.4(HOXA6):c.89C>A (p.Ala30Asp)	HOXA-AS3, HOXA3 +1 more (A30D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1527344	GRCh37/hg19 7p15.2(chr7:26270121-27193008)	HOTAIRM1, HOXA1 +8 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 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
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 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 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 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	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 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

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Links from Gene

Items: 48