Related gene-specific medical variations for Gene (Select 404266) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1296776	NM_018952.5(HOXB6):c.*51G>A	HOXB-AS3, HOXB6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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 1288313	NM_018952.5(HOXB6):c.*236G>A	HOXB-AS3, HOXB6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1288236	NM_018952.5(HOXB6):c.-78-182del	HOXB-AS3, HOXB6	Deletion (intron 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 1249425	NM_018952.5(HOXB6):c.-78-223G>A	HOXB-AS3, HOXB6	Single nucleotide variant (intron 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 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 218761	NM_018952.5(HOXB6):c.436G>A (p.Gly146Ser)	LOC130061087, HOXB6 +1 more (G146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 36