LOC107197952[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 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 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 2255958	NM_152739.4(HOXA9):c.786G>C (p.Lys262Asn)	HOXA10-HOXA9, HOXA9 +1 more (K262N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3106608	NM_152739.4(HOXA9):c.772A>T (p.Arg258Trp)	HOXA10-HOXA9, HOXA9 +1 more (R258W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2366041	NM_152739.4(HOXA9):c.722G>T (p.Arg241Leu)	HOXA10-HOXA9, HOXA9 +1 more (R241L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2235254	NM_152739.4(HOXA9):c.713A>C (p.Glu238Ala)	HOXA10-HOXA9, HOXA9 +1 more (E238A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 425408	NM_152739.4(HOXA9):c.668A>C (p.Lys223Thr)	HOXA10-HOXA9, HOXA9 +1 more (K223T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3106606	NM_152739.4(HOXA9):c.640A>C (p.Thr214Pro)	HOXA10-HOXA9, HOXA9 +1 more (T214P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 787701	NM_152739.4(HOXA9):c.627G>A (p.Lys209=)	HOXA10-HOXA9, HOXA9 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2459550	NM_152739.4(HOXA9):c.601C>T (p.Leu201Phe)	HOXA10-HOXA9, HOXA9 +1 more (L201F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2319586	NM_152739.4(HOXA9):c.582T>A (p.Asn194Lys)	HOXA10-HOXA9, HOXA9 +1 more (N194K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2408736	NM_152739.4(HOXA9):c.565C>A (p.Pro189Thr)	HOXA10-HOXA9, HOXA9 +1 more (P189T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3106605	NM_152739.4(HOXA9):c.551G>C (p.Ser184Thr)	HOXA10-HOXA9, HOXA9 +1 more (S184T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2554163	NM_152739.4(HOXA9):c.551G>A (p.Ser184Asn)	HOXA10-HOXA9, HOXA9 +1 more (S184N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3106604	NM_152739.4(HOXA9):c.521C>T (p.Ala174Val)	HOXA10-HOXA9, HOXA9 +1 more (A174V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2345683	NM_152739.4(HOXA9):c.470A>G (p.Tyr157Cys)	HOXA10-HOXA9, HOXA9 +1 more (Y157C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517390	NM_152739.4(HOXA9):c.413C>T (p.Ser138Leu)	HOXA10-HOXA9, HOXA9 +1 more (S138L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555835	NM_152739.4(HOXA9):c.359C>A (p.Ser120Tyr)	HOXA10-HOXA9, HOXA9 +1 more (S120Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385577	NM_152739.4(HOXA9):c.346C>A (p.Pro116Thr)	HOXA10-HOXA9, HOXA9 +1 more (P116T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106603	NM_152739.4(HOXA9):c.328T>C (p.Ser110Pro)	HOXA10-HOXA9, HOXA9 +1 more (S110P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801486	NM_152739.4(HOXA9):c.304G>C (p.Ala102Pro)	HOXA9, HOXA10-HOXA9 +1 more (A102P)	Single nucleotide variant (missense variant)	Hand-foot-genital syndrome	GUncertain significance
Select item 2272368	NM_152739.4(HOXA9):c.296C>T (p.Ala99Val)	HOXA10-HOXA9, HOXA9 +1 more (A99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208523	NM_152739.4(HOXA9):c.289C>T (p.Pro97Ser)	HOXA10-HOXA9, HOXA9 +1 more (P97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407929	NM_152739.4(HOXA9):c.193G>A (p.Ala65Thr)	HOXA10-HOXA9, HOXA9 +1 more (A65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556609	NM_152739.4(HOXA9):c.185T>G (p.Val62Gly)	HOXA10-HOXA9, HOXA9 +1 more (V62G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106602	NM_152739.4(HOXA9):c.170A>G (p.Gln57Arg)	HOXA10-HOXA9, HOXA9 +1 more (Q57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106601	NM_152739.4(HOXA9):c.142C>A (p.His48Asn)	HOXA10-HOXA9, HOXA9 +1 more (H48N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557021	NM_152739.4(HOXA9):c.125C>G (p.Ala42Gly)	HOXA10-HOXA9, HOXA9 +1 more (A42G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298559	NM_152739.4(HOXA9):c.118C>G (p.Arg40Gly)	HOXA10-HOXA9, HOXA9 +1 more (R40G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281910	NM_152739.4(HOXA9):c.101C>T (p.Thr34Ile)	HOXA10-HOXA9, HOXA9 +1 more (T34I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220785	NM_152739.4(HOXA9):c.97G>T (p.Gly33Trp)	HOXA10-HOXA9, HOXA9 +1 more (G33W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240286	NM_152739.4(HOXA9):c.79G>A (p.Val27Ile)	HOXA10-HOXA9, HOXA9 +1 more (V27I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106607	NM_152739.4(HOXA9):c.72G>C (p.Glu24Asp)	HOXA10-HOXA9, HOXA9 +1 more (E24D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 40