"Clinical Genetics, Academic Medical Center"[submitter] AND "LOC126806 - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 202292	NM_133379.5(TTN):c.14820G>A (p.Val4940=)	LOC126806432, TTN	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 47778	NM_133379.5(TTN):c.14812A>G (p.Met4938Val)	LOC126806432, TTN (M4938V)	Single nucleotide variant (intron variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 47777	NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser)	LOC126806432, TTN (T4936S)	Single nucleotide variant (intron variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 47776	NM_133379.5(TTN):c.14754T>G (p.Pro4918=)	LOC126806432, TTN	Single nucleotide variant (intron variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 47775	NM_133379.5(TTN):c.14744G>A (p.Arg4915His)	LOC126806432, TTN (R4915H)	Single nucleotide variant (intron variant +1 more)	not specified	GBenign
Select item 202291	NM_133379.5(TTN):c.14616C>T (p.Ser4872=)	LOC126806432, TTN	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 47773	NM_133379.5(TTN):c.14492G>A (p.Cys4831Tyr)	LOC126806432, TTN (C4831Y)	Single nucleotide variant (intron variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 203204	NM_133379.5(TTN):c.14450A>C (p.Gln4817Pro)	LOC126806432, TTN (Q4817P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 47769	NM_133379.5(TTN):c.14244T>C (p.Leu4748=)	LOC126806432, TTN	Single nucleotide variant (intron variant +1 more)	not specified +1 more	GBenign
Select item 166261	NM_133379.5(TTN):c.14214C>T (p.Thr4738=)	LOC126806432, TTN	Single nucleotide variant (intron variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1284852	NM_133379.5(TTN):c.14167T>C (p.Ser4723Pro)	LOC126806432, TTN (S4723P)	Single nucleotide variant (missense variant +1 more)	TTN-related disorder	GLikely benign
Select item 178261	NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr)	LOC126806432, TTN (I4693T)	Single nucleotide variant (intron variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 501259	NM_133379.5(TTN):c.14055A>G (p.Arg4685=)	LOC126806432, TTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 192051	NM_133379.5(TTN):c.14015C>T (p.Ala4672Val)	LOC126806432, TTN (A4672V)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 47766	NM_133379.5(TTN):c.13980C>G (p.His4660Gln)	LOC126806432, TTN (H4660Q)	Single nucleotide variant (intron variant +1 more)	not specified	GBenign
Select item 47765	NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser)	LOC126806432, TTN (P4650S)	Single nucleotide variant (intron variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity