ClinVar for Gene (Select 107126281) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058476	NM_005523.6(HOXA11):c.238G>A (p.Ala80Thr)	HOXA11, LOC107126281 (A80T)	Single nucleotide variant (missense variant)	HOXA11-related condition	GLikely benign
Select item 3056914	NM_005523.6(HOXA11):c.531GGC[4] (p.Ala183del)	HOXA11, LOC107126281 (A183del)	Microsatellite (inframe_indel +1 more)	HOXA11-related condition	GLikely benign
Select item 3055737	NM_005523.6(HOXA11):c.149A>G (p.Asn50Ser)	HOXA11, LOC107126281 (N50S)	Single nucleotide variant (missense variant)	HOXA11-related condition	GUncertain significance
Select item 3050064	NM_005523.6(HOXA11):c.609G>T (p.Thr203=)	HOXA11, LOC107126281	Single nucleotide variant (synonymous variant)	HOXA11-related condition	GLikely benign
Select item 3041106	NM_005523.6(HOXA11):c.289_297del (p.Pro97_Ala99del)	HOXA11, LOC107126281	Deletion (inframe deletion +1 more)	HOXA11-related condition	GBenign
Select item 3034459	NM_005523.6(HOXA11):c.295G>A (p.Ala99Thr)	HOXA11, LOC107126281 (A99T)	Single nucleotide variant (missense variant)	HOXA11-related condition	GLikely benign
Select item 3033369	NM_005523.6(HOXA11):c.236T>C (p.Leu79Pro)	HOXA11, LOC107126281 (L79P)	Single nucleotide variant (missense variant)	HOXA11-related condition	GLikely benign
Select item 3032005	NM_005523.6(HOXA11):c.391G>A (p.Gly131Ser)	HOXA11, LOC107126281 (G131S)	Single nucleotide variant (missense variant)	HOXA11-related condition	GUncertain significance
Select item 3031634	NM_005523.6(HOXA11):c.519G>T (p.Thr173=)	HOXA11, LOC107126281	Single nucleotide variant (synonymous variant)	HOXA11-related condition	GLikely benign
Select item 2671724	NM_005523.6(HOXA11):c.451C>A (p.Pro151Thr)	HOXA11, LOC107126281 (P151T)	Single nucleotide variant (missense variant)	Radioulnar synostosis with amegakaryocytic thrombocytopenia 1	GUncertain significance
Select item 2636348	NM_005523.6(HOXA11):c.169G>A (p.Val57Met)	HOXA11, LOC107126281 (V57M)	Single nucleotide variant (missense variant)	HOXA11-related condition	GUncertain significance
Select item 2632062	NM_005523.6(HOXA11):c.124C>G (p.Pro42Ala)	HOXA11, LOC107126281 (P42A)	Single nucleotide variant (missense variant)	HOXA11-related condition	GUncertain significance
Select item 2630820	NM_005523.6(HOXA11):c.509C>A (p.Pro170Gln)	HOXA11, LOC107126281 (P170Q)	Single nucleotide variant (missense variant)	HOXA11-related condition	GUncertain significance
Select item 2619047	NM_005523.6(HOXA11):c.340G>A (p.Val114Ile)	HOXA11, LOC107126281 (V114I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554440	NM_005523.6(HOXA11):c.508C>T (p.Pro170Ser)	HOXA11, LOC107126281 (P170S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545259	NM_005523.6(HOXA11):c.595G>T (p.Gly199Cys)	HOXA11, LOC107126281 (G199C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535783	NM_005523.6(HOXA11):c.554G>A (p.Gly185Asp)	HOXA11, LOC107126281 (G185D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443145	NM_005523.6(HOXA11):c.512C>A (p.Ala171Glu)	HOXA11, LOC107126281 (A171E)	Single nucleotide variant (missense variant)	HOXA11-related condition	GLikely benign
Select item 2388527	NM_005523.6(HOXA11):c.703G>T (p.Gly235Cys)	HOXA11, LOC107126281 (G235C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324012	NM_005523.6(HOXA11):c.557C>A (p.Ala186Glu)	HOXA11, LOC107126281 (A186E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294310	NM_005523.6(HOXA11):c.532G>A (p.Ala178Thr)	HOXA11, LOC107126281 (A178T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292370	NM_005523.6(HOXA11):c.560C>G (p.Pro187Arg)	LOC107126281, HOXA11 (P187R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286641	NM_005523.6(HOXA11):c.373A>C (p.Asn125His)	LOC107126281, HOXA11 (N125H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218370	NM_005523.6(HOXA11):c.604G>C (p.Glu202Gln)	LOC107126281, HOXA11 (E202Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212952	NM_005523.6(HOXA11):c.503G>T (p.Gly168Val)	HOXA11, LOC107126281 (G168V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809660	NM_005523.6(HOXA11):c.679G>C (p.Gly227Arg)	HOXA11, LOC107126281 (G227R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1685252	NM_005523.6(HOXA11):c.489G>C (p.Lys163Asn)	HOXA11, LOC107126281 (K163N)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1675087	NM_005523.6(HOXA11):c.396G>C (p.Arg132Ser)	HOXA11, LOC107126281 (R132S)	Single nucleotide variant (missense variant)	HOXA11-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1313875	NM_005523.6(HOXA11):c.353C>T (p.Pro118Leu)	HOXA11, LOC107126281 (P118L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310318	NM_005523.6(HOXA11):c.332C>T (p.Ser111Leu)	HOXA11, LOC107126281 (S111L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308754	NM_005523.6(HOXA11):c.348C>G (p.His116Gln)	HOXA11, LOC107126281 (H116Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306559	NM_005523.6(HOXA11):c.152T>A (p.Leu51Gln)	HOXA11, LOC107126281 (L51Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271624	NM_005523.6(HOXA11):c.709+284G>A	HOXA11, LOC107126281	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 988823	NM_005523.6(HOXA11):c.248A>G (p.Tyr83Cys)	LOC107126281, HOXA11 (Y83C)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 816805	NM_005523.6(HOXA11):c.304G>A (p.Val102Met)	HOXA11, LOC107126281 (V102M)	Single nucleotide variant (missense variant)	Flexion contracture	GUncertain significance
Select item 426639	NM_005523.6(HOXA11):c.625G>A (p.Glu209Lys)	HOXA11, LOC107126281 (E209K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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

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Links from Gene

Items: 45