ClinVar for Gene (Select 100133311) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3106600	NM_006896.4(HOXA7):c.622G>A (p.Ala208Thr)	HOXA-AS3, HOXA7 (A208T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3106599	NM_006896.4(HOXA7):c.413C>T (p.Thr138Met)	HOXA-AS3, HOXA7 (T138M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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 3106590	NM_019102.4(HOXA5):c.340A>T (p.Ser114Cys)	HOXA-AS3, HOXA3 +1 more (S114C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106589	NM_019102.4(HOXA5):c.160C>G (p.Leu54Val)	HOXA-AS3, HOXA3 +1 more (L54V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619775	NM_019102.4(HOXA5):c.31G>C (p.Gly11Arg)	HOXA-AS3, HOXA3 +1 more (G11R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618771	NM_019102.4(HOXA5):c.6C>G (p.Ser2Arg)	HOXA-AS3, HOXA3 +1 more (S2R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589690	NM_006896.4(HOXA7):c.663T>A (p.Asp221Glu)	HOXA-AS3, HOXA7 (D221E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
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 2515896	NM_019102.4(HOXA5):c.244G>C (p.Ala82Pro)	HOXA-AS3, HOXA3 +1 more (A82P)	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 2402826	NM_019102.4(HOXA5):c.590G>C (p.Arg197Thr)	HOXA-AS3, HOXA3 +1 more (R197T)	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 2379689	NM_019102.4(HOXA5):c.478G>A (p.Ala160Thr)	HOXA-AS3, HOXA3 +1 more (A160T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378532	NM_019102.4(HOXA5):c.788C>T (p.Ala263Val)	HOXA-AS3, HOXA3 +1 more (A263V)	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 2321694	NM_006896.4(HOXA7):c.541C>G (p.Arg181Gly)	HOXA-AS3, HOXA7 (R181G)	Single nucleotide variant (non-coding transcript 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 2275629	NM_006896.4(HOXA7):c.601G>C (p.Glu201Gln)	HOXA-AS3, HOXA7 (E201Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2265726	NM_006896.4(HOXA7):c.625G>A (p.Ala209Thr)	HOXA-AS3, HOXA7 (A209T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2255957	NM_006896.4(HOXA7):c.487A>G (p.Ile163Val)	HOXA-AS3, HOXA7 (I163V)	Single nucleotide variant (non-coding transcript 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 2250299	NM_006896.4(HOXA7):c.617C>T (p.Ser206Phe)	HOXA-AS3, HOXA7 (S206F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2225613	NM_006896.4(HOXA7):c.457C>G (p.Arg153Gly)	HOXA-AS3, HOXA7 (R153G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 774314	NM_019102.4(HOXA5):c.81T>C (p.His27=)	HOXA-AS3, HOXA3 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	PSMG3, PSMG3-AS1 +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	LOC129997985, LOC129997986 +560 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 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	ABCB5, ACTB +1148 more	Copy number gain	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 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 42