Related gene-specific medical variations for Gene (Select 7268) - ClinVar - NCBI

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Links from Gene

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2619555	NM_004623.5(TTC4):c.103T>C (p.Trp35Arg)	TTC4, MROH7-TTC4 (W35R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543303	NM_004623.5(TTC4):c.979G>C (p.Val327Leu)	MROH7-TTC4, TTC4 (V228L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542980	NM_004623.5(TTC4):c.779A>T (p.Asn260Ile)	MROH7-TTC4, TTC4 (N260I)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2526267	NM_004623.5(TTC4):c.686G>C (p.Arg229Thr)	MROH7-TTC4, TTC4 (R229T)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2460783	NM_004623.5(TTC4):c.863C>T (p.Ser288Leu)	MROH7-TTC4, TTC4 (S288L)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2296736	NM_004623.5(TTC4):c.88T>A (p.Phe30Ile)	MROH7-TTC4, TTC4 (F30I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285989	NM_004623.5(TTC4):c.19G>A (p.Asp7Asn)	TTC4, MROH7-TTC4 (D7N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254226	NM_004623.5(TTC4):c.683C>T (p.Ala228Val)	TTC4, MROH7-TTC4 (A228V)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 587543	NM_004623.5(TTC4):c.944A>G (p.Asp315Gly)	MROH7-TTC4, TTC4 (D315G)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance