"HOXB-AS3"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 154833	GRCh38/hg38 17q21.32-21.33(chr17:47986886-49329397)x1	ABI3, ATP5MC1 +99 more	Copy number loss	See cases	GPathogenic
Select item 155384	GRCh38/hg38 17q21.32-21.33(chr17:48450628-49552921)x3	ABI3, ATP5MC1 +92 more	Copy number gain	See cases	GUncertain significance
Select item 59588	GRCh38/hg38 17q21.32-21.33(chr17:48520885-49511208)x1	ABI3, ATP5MC1 +87 more	Copy number loss	See cases	GPathogenic
Select item 3284663	NM_002147.4(HOXB5):c.761A>T (p.Lys254Ile)	HOXB-AS3, HOXB5 (K254I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106641	NM_002147.4(HOXB5):c.556A>C (p.Ser186Arg)	HOXB-AS3, HOXB5 (S186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106640	NM_002147.4(HOXB5):c.424C>G (p.Pro142Ala)	HOXB-AS3, HOXB5 (P142A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284664	NM_002147.4(HOXB5):c.377C>A (p.Ser126Tyr)	HOXB-AS3, HOXB5 (S126Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231991	NM_002147.4(HOXB5):c.355G>T (p.Asp119Tyr)	HOXB-AS3, HOXB5 (D119Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284660	NM_002147.4(HOXB5):c.341C>T (p.Ala114Val)	HOXB-AS3, HOXB5 (A114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389869	NM_002147.4(HOXB5):c.242A>G (p.Gln81Arg)	HOXB-AS3, HOXB5 +1 more (Q81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106639	NM_002147.4(HOXB5):c.213G>C (p.Glu71Asp)	HOXB-AS3, HOXB5 (E71D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284661	NM_002147.4(HOXB5):c.208G>A (p.Gly70Ser)	HOXB-AS3, HOXB5 (G70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284662	NM_002147.4(HOXB5):c.94G>T (p.Gly32Cys)	HOXB-AS3, HOXB5 (G32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347729	NM_002147.4(HOXB5):c.79G>A (p.Gly27Ser)	HOXB-AS3, HOXB5 (G27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400321	NM_002147.4(HOXB5):c.34C>A (p.Arg12Ser)	HOXB-AS3, HOXB5 (R12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1288313	NM_018952.5(HOXB6):c.*236G>A	HOXB-AS3, HOXB6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1258001	NM_018952.5(HOXB6):c.*157C>T	HOXB-AS3, HOXB6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1224669	NM_018952.5(HOXB6):c.*52A>C	HOXB-AS3, HOXB6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1296776	NM_018952.5(HOXB6):c.*51G>A	HOXB-AS3, HOXB6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3284666	NM_018952.5(HOXB6):c.660A>C (p.Glu220Asp)	HOXB-AS3, HOXB6 (E220D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284665	NM_018952.5(HOXB6):c.642T>G (p.Ser214Arg)	HOXB-AS3, HOXB6 (S214R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106646	NM_018952.5(HOXB6):c.590G>A (p.Arg197Gln)	HOXB-AS3, HOXB6 +1 more (R197Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218761	NM_018952.5(HOXB6):c.436G>A (p.Gly146Ser)	LOC130061087, HOXB6 +1 more (G146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064993	NM_018952.5(HOXB6):c.415+5G>C	HOXB-AS3, HOXB6 +1 more	Single nucleotide variant (intron variant)	Meckel syndrome, type 1	GUncertain significance
Select item 2336402	NM_018952.5(HOXB6):c.405T>A (p.Asn135Lys)	HOXB-AS3, HOXB6 +1 more (N135K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329216	NM_018952.5(HOXB6):c.402G>A (p.Met134Ile)	HOXB-AS3, HOXB6 +1 more (M134I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531405	NM_018952.5(HOXB6):c.398G>A (p.Arg133Gln)	HOXB-AS3, HOXB6 +1 more (R133Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106645	NM_018952.5(HOXB6):c.386C>G (p.Pro129Arg)	HOXB-AS3, HOXB6 +1 more (P129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527614	NM_018952.5(HOXB6):c.361C>G (p.Gln121Glu)	HOXB-AS3, HOXB6 (Q121E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589502	NM_018952.5(HOXB6):c.337A>T (p.Ser113Cys)	HOXB-AS3, HOXB6 (S113C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611316	NM_018952.5(HOXB6):c.332A>G (p.Asp111Gly)	HOXB-AS3, HOXB6 (D111G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460375	NM_018952.5(HOXB6):c.315G>C (p.Lys105Asn)	HOXB-AS3, HOXB6 (K105N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3029221	NM_018952.5(HOXB6):c.312G>A (p.Arg104=)	HOXB-AS3, HOXB6	Single nucleotide variant (synonymous variant)	HOXB6-related disorder	GLikely benign
Select item 2283099	NM_018952.5(HOXB6):c.292C>T (p.Pro98Ser)	HOXB-AS3, HOXB6 (P98S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106644	NM_018952.5(HOXB6):c.287A>G (p.Gln96Arg)	HOXB-AS3, HOXB6 (Q96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1289538	NM_018952.5(HOXB6):c.273C>A (p.Ser91=)	HOXB-AS3, HOXB6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3106643	NM_018952.5(HOXB6):c.268C>T (p.Leu90Phe)	HOXB-AS3, HOXB6 (L90F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518719	NM_018952.5(HOXB6):c.249G>C (p.Glu83Asp)	HOXB-AS3, HOXB6 (E83D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106642	NM_018952.5(HOXB6):c.223G>T (p.Gly75Trp)	HOXB-AS3, HOXB6 (G75W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046990	NM_018952.5(HOXB6):c.105G>T (p.Pro35=)	HOXB-AS3, HOXB6 +1 more	Single nucleotide variant (synonymous variant)	HOXB6-related disorder	GLikely benign
Select item 2528690	NM_018952.5(HOXB6):c.98C>G (p.Ala33Gly)	HOXB-AS3, HOXB6 +1 more (A33G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218762	NM_018952.5(HOXB6):c.91G>A (p.Gly31Ser)	HOXB-AS3, HOXB6 +1 more (G31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037284	NM_018952.5(HOXB6):c.87G>A (p.Ser29=)	HOXB-AS3, HOXB6 +1 more	Single nucleotide variant (synonymous variant)	HOXB6-related disorder	GBenign
Select item 2386208	NM_018952.5(HOXB6):c.79C>A (p.Leu27Ile)	HOXB-AS3, HOXB6 +1 more (L27I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1288236	NM_018952.5(HOXB6):c.-78-182del	HOXB-AS3, HOXB6	Deletion (intron variant)	not provided	GBenign
Select item 1249425	NM_018952.5(HOXB6):c.-78-223G>A	HOXB-AS3, HOXB6	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 48