"Ambry Genetics"[submitter] AND "TTC7B"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2261210	NM_001010854.2(TTC7B):c.2446G>T (p.Ala816Ser)	TTC7B (A887S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309429	NM_001010854.2(TTC7B):c.2362C>T (p.Arg788Trp)	TTC7B (R788W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459575	NM_001010854.2(TTC7B):c.2341A>C (p.Ser781Arg)	TTC7B (S696R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184396	NM_001010854.2(TTC7B):c.2248C>T (p.Arg750Trp)	TTC7B (R665W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215284	NM_001010854.2(TTC7B):c.2242G>A (p.Glu748Lys)	TTC7B (E748K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589807	NM_001010854.2(TTC7B):c.2227C>T (p.Arg743Trp)	TTC7B (R743W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286616	NM_001010854.2(TTC7B):c.2156C>G (p.Thr719Ser)	TTC7B (T634S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241309	NM_001010854.2(TTC7B):c.2076G>T (p.Trp692Cys)	TTC7B (W692C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614948	NM_001010854.2(TTC7B):c.2071C>T (p.Pro691Ser)	TTC7B (P691S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471249	NM_001010854.2(TTC7B):c.1972G>A (p.Val658Ile)	TTC7B (V658I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393114	NM_001010854.2(TTC7B):c.1896A>C (p.Leu632Phe)	TTC7B (L530F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509941	NM_001010854.2(TTC7B):c.1880G>A (p.Arg627His)	TTC7B (R525H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541119	NM_001010854.2(TTC7B):c.1854C>A (p.Asn618Lys)	TTC7B (N618K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609651	NM_001010854.2(TTC7B):c.1790G>A (p.Arg597Gln)	TTC7B (R495Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606273	NM_001010854.2(TTC7B):c.1760T>C (p.Phe587Ser)	TTC7B (F485S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356759	NM_001010854.2(TTC7B):c.1726C>G (p.Leu576Val)	TTC7B, TTC7B-AS1 (L576V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383502	NM_001010854.2(TTC7B):c.1717G>A (p.Asp573Asn)	TTC7B, TTC7B-AS1 (D471N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372491	NM_001010854.2(TTC7B):c.1714A>G (p.Ile572Val)	TTC7B, TTC7B-AS1 (I470V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329914	NM_001010854.2(TTC7B):c.1642G>A (p.Asp548Asn)	TTC7B, TTC7B-AS1 (D446N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184395	NM_001010854.2(TTC7B):c.1601C>G (p.Ala534Gly)	TTC7B, TTC7B-AS1 (A432G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311868	NM_001010854.2(TTC7B):c.1579A>G (p.Ile527Val)	LOC126862023, TTC7B +1 more (I527V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2377766	NM_001010854.2(TTC7B):c.1565C>G (p.Ala522Gly)	LOC126862023, TTC7B +1 more (A420G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2470297	NM_001010854.2(TTC7B):c.1483G>A (p.Val495Ile)	TTC7B (V393I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541273	NM_001010854.2(TTC7B):c.1394C>T (p.Thr465Met)	TTC7B (T363M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184394	NM_001010854.2(TTC7B):c.1375G>A (p.Val459Ile)	TTC7B (V357I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615714	NM_001010854.2(TTC7B):c.1357A>C (p.Lys453Gln)	TTC7B (K351Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336663	NM_001010854.2(TTC7B):c.1324A>G (p.Met442Val)	TTC7B (M340V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616331	NM_001010854.2(TTC7B):c.1210G>T (p.Ala404Ser)	TTC7B (A404S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329917	NM_001010854.2(TTC7B):c.1115C>A (p.Ala372Asp)	TTC7B (A270D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184393	NM_001010854.2(TTC7B):c.1066C>T (p.Leu356Phe)	TTC7B (L356F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356109	NM_001010854.2(TTC7B):c.922C>T (p.Arg308Trp)	TTC7B (R308W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329916	NM_001010854.2(TTC7B):c.917T>G (p.Leu306Arg)	TTC7B (L306R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568969	NM_001010854.2(TTC7B):c.916C>T (p.Leu306Phe)	TTC7B (L306F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184400	NM_001010854.2(TTC7B):c.887G>A (p.Arg296His)	TTC7B (R194H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184399	NM_001010854.2(TTC7B):c.854C>A (p.Pro285Gln)	TTC7B (P183Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329915	NM_001010854.2(TTC7B):c.743C>T (p.Ala248Val)	TTC7B (A146V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215329	NM_001010854.2(TTC7B):c.718G>A (p.Gly240Arg)	TTC7B (G138R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521527	NM_001010854.2(TTC7B):c.669G>C (p.Gln223His)	TTC7B (Q223H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521526	NM_001010854.2(TTC7B):c.668A>C (p.Gln223Pro)	TTC7B (Q223P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333097	NM_001010854.2(TTC7B):c.442A>G (p.Lys148Glu)	TTC7B (K148E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329227	NM_001010854.2(TTC7B):c.431C>G (p.Ala144Gly)	TTC7B (A144G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184397	NM_001010854.2(TTC7B):c.365G>A (p.Arg122Gln)	TTC7B (R122Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472743	NM_001010854.2(TTC7B):c.286C>G (p.Leu96Val)	TTC7B (L96V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550919	NM_001010854.2(TTC7B):c.236G>A (p.Arg79His)	TTC7B (R79H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477433	NM_001010854.2(TTC7B):c.235C>T (p.Arg79Cys)	TTC7B (R79C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610169	NM_001010854.2(TTC7B):c.29T>A (p.Leu10Gln)	TTC7B (L10Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534707	NM_001010854.2(TTC7B):c.11A>G (p.Lys4Arg)	TTC7B (K4R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 47