Related gene-specific medical variations for Gene (Select 84078) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287476	NM_032138.7(KBTBD7):c.1597G>T (p.Val533Phe)	KBTBD6-DT, KBTBD7 (V533F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287475	NM_032138.7(KBTBD7):c.148C>G (p.Leu50Val)	KBTBD6-DT, KBTBD7 (L50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112990	NM_032138.7(KBTBD7):c.908A>G (p.Tyr303Cys)	KBTBD6-DT, KBTBD7 (Y303C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112989	NM_032138.7(KBTBD7):c.295A>G (p.Met99Val)	KBTBD6-DT, KBTBD7 (M99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112988	NM_032138.7(KBTBD7):c.23C>G (p.Pro8Arg)	KBTBD6-DT, KBTBD7 (P8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112987	NM_032138.7(KBTBD7):c.233C>T (p.Thr78Met)	KBTBD6-DT, KBTBD7 (T78M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112986	NM_032138.7(KBTBD7):c.223G>A (p.Gly75Arg)	KBTBD6-DT, KBTBD7 (G75R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112985	NM_032138.7(KBTBD7):c.2006T>A (p.Val669Glu)	KBTBD6-DT, KBTBD7 (V669E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112984	NM_032138.7(KBTBD7):c.1786A>C (p.Ile596Leu)	KBTBD6-DT, KBTBD7 (I596L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112983	NM_032138.7(KBTBD7):c.1345G>A (p.Val449Ile)	KBTBD6-DT, KBTBD7 (V449I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112982	NM_032138.7(KBTBD7):c.1219G>A (p.Val407Met)	KBTBD6-DT, KBTBD7 (V407M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112981	NM_032138.7(KBTBD7):c.1027A>C (p.Lys343Gln)	KBTBD6-DT, KBTBD7 (K343Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623389	NM_032138.7(KBTBD7):c.803T>G (p.Met268Arg)	KBTBD6-DT, KBTBD7 (M268R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612642	NM_032138.7(KBTBD7):c.1624G>C (p.Gly542Arg)	KBTBD6-DT, KBTBD7 (G542R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513766	NM_032138.7(KBTBD7):c.419A>G (p.Asn140Ser)	KBTBD6-DT, KBTBD7 (N140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510159	NM_032138.7(KBTBD7):c.1803G>A (p.Met601Ile)	KBTBD6-DT, KBTBD7 (M601I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495937	NM_032138.7(KBTBD7):c.961A>G (p.Ser321Gly)	KBTBD6-DT, KBTBD7 (S321G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495773	NM_032138.7(KBTBD7):c.557A>G (p.His186Arg)	KBTBD6-DT, KBTBD7 (H186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495771	NM_032138.7(KBTBD7):c.551A>G (p.Asp184Gly)	KBTBD6-DT, KBTBD7 (D184G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474321	NM_032138.7(KBTBD7):c.1568A>G (p.Asp523Gly)	KBTBD6-DT, KBTBD7 (D523G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379996	NM_032138.7(KBTBD7):c.86C>T (p.Ser29Leu)	KBTBD6-DT, KBTBD7 (S29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357286	NM_032138.7(KBTBD7):c.20T>C (p.Val7Ala)	KBTBD6-DT, KBTBD7 (V7A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2333693	NM_032138.7(KBTBD7):c.1261C>T (p.Arg421Cys)	KBTBD6-DT, KBTBD7 (R421C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298342	NM_032138.7(KBTBD7):c.1373G>C (p.Ser458Thr)	KBTBD6-DT, KBTBD7 (S458T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276600	NM_032138.7(KBTBD7):c.722A>G (p.His241Arg)	KBTBD6-DT, KBTBD7 (H241R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259738	NM_032138.7(KBTBD7):c.797G>A (p.Arg266His)	KBTBD6-DT, KBTBD7 (R266H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244024	NM_032138.7(KBTBD7):c.1259A>G (p.Asp420Gly)	KBTBD6-DT, KBTBD7 (D420G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239353	NM_032138.7(KBTBD7):c.95C>T (p.Ala32Val)	KBTBD6-DT, KBTBD7 (A32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236035	NM_032138.7(KBTBD7):c.1088C>T (p.Ser363Leu)	KBTBD6-DT, KBTBD7 (S363L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231659	NM_032138.7(KBTBD7):c.1745G>A (p.Arg582Gln)	KBTBD6-DT, KBTBD7 (R582Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206585	NM_032138.7(KBTBD7):c.2024G>A (p.Arg675Gln)	KBTBD6-DT, KBTBD7 (R675Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 254109	NM_032138.7(KBTBD7):c.1208A>C (p.Lys403Thr)	LOC101929140, KBTBD7 (K403T)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 254108	NM_032138.7(KBTBD7):c.1496C>G (p.Pro499Arg)	KBTBD7, LOC101929140 (P499R)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign

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Links from Gene

Items: 33