Related gene-specific medical variations for Gene (Select 9654) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330010	NM_014640.5(TTLL4):c.1801T>C (p.Trp601Arg)	LOC126806512, TTLL4 (W601R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330008	NM_014640.5(TTLL4):c.2455G>A (p.Glu819Lys)	LOC126806513, TTLL4 (E819K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330003	NM_014640.5(TTLL4):c.1775G>A (p.Arg592Gln)	LOC126806512, TTLL4 (R592Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184602	NM_014640.5(TTLL4):c.1816T>A (p.Leu606Met)	LOC126806512, TTLL4 (L606M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184601	NM_014640.5(TTLL4):c.1774C>T (p.Arg592Trp)	LOC126806512, TTLL4 (R592W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615546	NM_014640.5(TTLL4):c.1763A>G (p.Tyr588Cys)	LOC126806512, TTLL4 (Y588C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544711	NM_014640.5(TTLL4):c.1829A>C (p.Lys610Thr)	LOC126806512, TTLL4 (K610T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512517	NM_014640.5(TTLL4):c.2050C>T (p.Arg684Cys)	LOC126806513, TTLL4 (R684C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456210	NM_014640.5(TTLL4):c.2059A>G (p.Lys687Glu)	LOC126806513, TTLL4 (K687E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340117	NM_014640.5(TTLL4):c.1694C>G (p.Ser565Cys)	LOC126806512, TTLL4 (S565C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239326	NM_014640.5(TTLL4):c.2143C>T (p.Arg715Cys)	LOC126806513, TTLL4 (R715C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235044	NM_014640.5(TTLL4):c.2347T>C (p.Ser783Pro)	LOC126806513, TTLL4 (S783P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219093	NM_014640.5(TTLL4):c.1846C>T (p.Pro616Ser)	LOC126806512, TTLL4 (P616S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217532	NM_014640.5(TTLL4):c.2258A>C (p.His753Pro)	LOC126806513, TTLL4 (H753P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217531	NM_014640.5(TTLL4):c.2257C>G (p.His753Asp)	LOC126806513, TTLL4 (H753D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance