HOXD9[gene] and "single gene"[properties] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2260774	NM_014213.4(HOXD9):c.20G>A (p.Gly7Glu)	HOXD9 (G7E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775791	NM_014213.4(HOXD9):c.20G>C (p.Gly7Ala)	HOXD9 (G7A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3106758	NM_014213.4(HOXD9):c.107C>A (p.Ala36Glu)	HOXD9 (A36E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386049	NM_014213.4(HOXD9):c.167C>T (p.Pro56Leu)	HOXD9 (P56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293464	NM_014213.4(HOXD9):c.184G>C (p.Glu62Gln)	HOXD9 (E62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482187	NM_014213.4(HOXD9):c.196T>C (p.Cys66Arg)	HOXD9 (C66R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282301	NM_014213.4(HOXD9):c.299T>G (p.Val100Gly)	HOXD9 (V100G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039017	NM_014213.4(HOXD9):c.334C>A (p.Pro112Thr)	HOXD9 (P112T)	Single nucleotide variant (missense variant)	HOXD9-related disorder	GLikely benign
Select item 2234801	NM_014213.4(HOXD9):c.353C>T (p.Ser118Phe)	HOXD9 (S118F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106759	NM_014213.4(HOXD9):c.418G>A (p.Gly140Ser)	HOXD9 (G140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507845	NM_014213.4(HOXD9):c.458C>G (p.Ala153Gly)	HOXD9 (A153G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043845	NM_014213.4(HOXD9):c.463G>C (p.Gly155Arg)	HOXD9 (G155R)	Single nucleotide variant (missense variant)	HOXD9-related disorder	GLikely benign
Select item 3035685	NM_014213.4(HOXD9):c.463G>T (p.Gly155Trp)	HOXD9 (G155W)	Single nucleotide variant (missense variant)	HOXD9-related disorder	GLikely benign
Select item 2347289	NM_014213.4(HOXD9):c.466C>A (p.Arg156Ser)	HOXD9 (R156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106760	NM_014213.4(HOXD9):c.544A>G (p.Thr182Ala)	HOXD9 (T182A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284707	NM_014213.4(HOXD9):c.590G>A (p.Arg197Gln)	HOXD9 (R197Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287785	NM_014213.4(HOXD9):c.650C>A (p.Ala217Glu)	HOXD9 (A217E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106761	NM_014213.4(HOXD9):c.667G>A (p.Gly223Arg)	HOXD9 (G223R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313512	NM_014213.4(HOXD9):c.673G>C (p.Gly225Arg)	HOXD9 (G225R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538326	NM_014213.4(HOXD9):c.719C>T (p.Ser240Leu)	HOXD9 (S240L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350354	NM_014213.4(HOXD9):c.741C>G (p.Asp247Glu)	HOXD9 (D247E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490333	NM_014213.4(HOXD9):c.805C>G (p.Gln269Glu)	HOXD9 (Q269E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241825	NM_014213.4(HOXD9):c.839T>G (p.Ile280Ser)	HOXD9 (I280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106762	NM_014213.4(HOXD9):c.878C>G (p.Thr293Ser)	HOXD9 (T293S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789971	NM_014213.4(HOXD9):c.921C>T (p.Asn307=)	HOXD9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3106763	NM_014213.4(HOXD9):c.924G>T (p.Met308Ile)	HOXD9 (M308I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342582	NM_014213.4(HOXD9):c.1046C>T (p.Pro349Leu)	HOXD9 (P349L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152973	GRCh38/hg38 2q31.1(chr2:176124494-176124918)x3	HOXD9	Copy number gain	See cases	GBenign

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Items: 28