Related gene-specific medical variations for Gene (Select 25809) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2412287	NM_012263.5(TTLL1):c.1001C>T (p.Thr334Met)	TTLL1-AS1, TTLL1 (T334M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371103	NM_012263.5(TTLL1):c.1229G>A (p.Arg410Gln)	TTLL1-AS1, TTLL1 (R410Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287890	NM_012263.5(TTLL1):c.1192A>G (p.Ser398Gly)	TTLL1-AS1, TTLL1 (S398G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281867	NM_012263.5(TTLL1):c.1081A>G (p.Ile361Val)	TTLL1, TTLL1-AS1 (I361V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 403577	NM_012263.5(TTLL1):c.894G>A (p.Pro298=)	TTLL1, TTLL1-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 403576	NM_012263.5(TTLL1):c.1242G>A (p.Ser414=)	TTLL1, TTLL1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GBenign

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