"Revvity Omics, Revvity"[submitter] AND "LOC126806429"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 203284	NM_001267550.2(TTN):c.20170G>A (p.Val6724Ile)	LOC126806429, TTN (V6407I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GUncertain significance
Select item 179304	NM_001267550.2(TTN):c.20169C>T (p.Ala6723=)	LOC126806429, TTN	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2438351	NM_001267550.2(TTN):c.20099T>C (p.Val6700Ala)	LOC126806429, TTN (V5456A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690352	NM_001267550.2(TTN):c.20083C>T (p.Pro6695Ser)	LOC126806429, TTN (P5451S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437855	NM_001267550.2(TTN):c.19996C>G (p.Pro6666Ala)	LOC126806429, TTN (P5422A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 198364	NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser)	LOC126806429, TTN (P6666S +2 more)	Single nucleotide variant (missense variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +6 more	GUncertain significance
Select item 192020	NM_001267550.2(TTN):c.19995A>T (p.Glu6665Asp)	LOC126806429, TTN (E5421D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 535215	NM_001267550.2(TTN):c.19970G>T (p.Cys6657Phe)	LOC126806429, TTN (C6657F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 46663	NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn)	LOC126806429, TTN (D6655N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 203281	NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn)	LOC126806429, TTN (T6324N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2431003	NM_001267550.2(TTN):c.19910A>G (p.Asp6637Gly)	LOC126806429, TTN (D5393G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 282836	NM_001267550.2(TTN):c.19881G>A (p.Ser6627=)	LOC126806429, TTN	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2437939	NM_001267550.2(TTN):c.19856A>C (p.Lys6619Thr)	LOC126806429, TTN (K5375T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437672	NM_001267550.2(TTN):c.19850G>A (p.Gly6617Asp)	LOC126806429, TTN (G5373D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437938	NM_001267550.2(TTN):c.19799C>T (p.Thr6600Ile)	LOC126806429, TTN (T5356I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437766	NM_001267550.2(TTN):c.19798A>G (p.Thr6600Ala)	LOC126806429, TTN (T5356A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 404645	NM_001267550.2(TTN):c.19786A>G (p.Ile6596Val)	LOC126806429, TTN (I6596V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance