Related gene-specific medical variations for Gene (Select 219899) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3174788	NM_001363644.2(TBCEL):c.757A>C (p.Lys253Gln)	TBCEL, TBCEL-TECTA (K253Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174787	NM_001363644.2(TBCEL):c.689G>A (p.Arg230Gln)	TBCEL, TBCEL-TECTA (R230Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174786	NM_001363644.2(TBCEL):c.595T>C (p.Phe199Leu)	TBCEL, TBCEL-TECTA (F199L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174785	NM_001363644.2(TBCEL):c.578G>A (p.Arg193Gln)	TBCEL, TBCEL-TECTA (R193Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174784	NM_001363644.2(TBCEL):c.511A>G (p.Ile171Val)	TBCEL, TBCEL-TECTA (I171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174783	NM_001363644.2(TBCEL):c.382G>A (p.Val128Ile)	TBCEL, TBCEL-TECTA (V128I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174782	NM_001363644.2(TBCEL):c.110C>A (p.Thr37Lys)	TBCEL, TBCEL-TECTA (T37K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035273	NM_001363644.2(TBCEL):c.436A>T (p.Ile146Leu)	TBCEL, TBCEL-TECTA (I146L)	Single nucleotide variant (missense variant)	TBCEL-related disorder	GLikely benign
Select item 2626898	NM_001363644.2(TBCEL):c.74G>A (p.Arg25His)	TBCEL, TBCEL-TECTA (R25H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2613966	NM_001363644.2(TBCEL):c.122C>T (p.Ser41Phe)	TBCEL, TBCEL-TECTA (S41F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558406	NM_001363644.2(TBCEL):c.274G>A (p.Val92Ile)	TBCEL, TBCEL-TECTA (V92I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513680	NM_001363644.2(TBCEL):c.122C>G (p.Ser41Cys)	TBCEL, TBCEL-TECTA (S41C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482892	NM_001363644.2(TBCEL):c.1135C>T (p.Pro379Ser)	TBCEL, TBCEL-TECTA (P379S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410651	NM_001363644.2(TBCEL):c.1130A>G (p.Gln377Arg)	TBCEL, TBCEL-TECTA (Q377R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400224	NM_001363644.2(TBCEL):c.608A>T (p.Asp203Val)	TBCEL, TBCEL-TECTA (D203V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372099	NM_001363644.2(TBCEL):c.435G>T (p.Met145Ile)	TBCEL, TBCEL-TECTA (M145I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371337	NM_001363644.2(TBCEL):c.292A>C (p.Asn98His)	TBCEL, TBCEL-TECTA (N98H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312699	NM_001363644.2(TBCEL):c.503G>C (p.Cys168Ser)	TBCEL, TBCEL-TECTA (C168S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270346	NM_001363644.2(TBCEL):c.143A>G (p.Asn48Ser)	TBCEL, TBCEL-TECTA (N48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216059	NM_001363644.2(TBCEL):c.733A>G (p.Ile245Val)	TBCEL, TBCEL-TECTA (I245V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Links from Gene

Items: 20