TTC14[gene] and "single gene"[properties] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329767	NM_133462.4(TTC14):c.26C>T (p.Ser9Leu)	TTC14 (S9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348279	NM_133462.4(TTC14):c.36C>G (p.Cys12Trp)	TTC14 (C12W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344122	NM_133462.4(TTC14):c.83A>G (p.Asn28Ser)	TTC14 (N28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559944	NM_133462.4(TTC14):c.181A>G (p.Asn61Asp)	TTC14 (N61D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205018	NM_133462.4(TTC14):c.206C>T (p.Ser69Phe)	TTC14 (S69F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370433	NM_133462.4(TTC14):c.254C>T (p.Pro85Leu)	TTC14 (P85L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184083	NM_133462.4(TTC14):c.268A>C (p.Ile90Leu)	TTC14 (I90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226235	NM_133462.4(TTC14):c.280A>G (p.Ser94Gly)	TTC14 (S94G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059709	NM_133462.4(TTC14):c.287-3dup	TTC14	Duplication (intron variant)	TTC14-related disorder	GBenign
Select item 2343209	NM_133462.4(TTC14):c.293A>G (p.Tyr98Cys)	TTC14 (Y98C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184084	NM_133462.4(TTC14):c.337A>G (p.Met113Val)	TTC14 (M113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337016	NM_133462.4(TTC14):c.362G>A (p.Arg121Gln)	TTC14 (R121Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323226	NM_133462.4(TTC14):c.406A>G (p.Ile136Val)	TTC14 (I136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184085	NM_133462.4(TTC14):c.458T>A (p.Met153Lys)	TTC14 (M153K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184086	NM_133462.4(TTC14):c.469G>A (p.Ala157Thr)	TTC14 (A157T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329769	NM_133462.4(TTC14):c.569G>A (p.Arg190Gln)	TTC14 (R190Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522669	NM_133462.4(TTC14):c.707G>A (p.Ser236Asn)	TTC14 (S236N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319056	NM_133462.4(TTC14):c.707G>C (p.Ser236Thr)	TTC14 (S236T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396852	NM_133462.4(TTC14):c.790G>C (p.Glu264Gln)	TTC14 (E264Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376324	NM_133462.4(TTC14):c.803A>G (p.Glu268Gly)	TTC14 (E268G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3329770	NM_133462.4(TTC14):c.877G>T (p.Asp293Tyr)	TTC14 (D293Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050662	NM_133462.4(TTC14):c.888T>C (p.Ser296=)	TTC14	Single nucleotide variant (synonymous variant)	TTC14-related disorder	GBenign
Select item 3048566	NM_133462.4(TTC14):c.939C>T (p.Ile313=)	TTC14	Single nucleotide variant (synonymous variant)	TTC14-related disorder	GLikely benign
Select item 3038263	NM_133462.4(TTC14):c.1056G>A (p.Ala352=)	TTC14	Single nucleotide variant (synonymous variant)	TTC14-related disorder	GBenign
Select item 3035715	NM_133462.4(TTC14):c.1143C>T (p.Leu381=)	TTC14	Single nucleotide variant (synonymous variant)	TTC14-related disorder	GLikely benign
Select item 3184078	NM_133462.4(TTC14):c.1156G>A (p.Val386Ile)	TTC14 (V386I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254213	NM_133462.4(TTC14):c.1340A>C (p.Lys447Thr)	TTC14 (K447T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2290954	NM_133462.4(TTC14):c.1363G>A (p.Ala455Thr)	TTC14 (A455T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3184079	NM_133462.4(TTC14):c.1439G>A (p.Ser480Asn)	TTC14 (S480N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3045653	NM_133462.4(TTC14):c.1513C>T (p.His505Tyr)	TTC14 (H505Y)	Single nucleotide variant (3 prime UTR variant +1 more)	TTC14-related disorder	GLikely benign
Select item 2215949	NM_133462.4(TTC14):c.1514A>G (p.His505Arg)	TTC14 (H505R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2611595	NM_133462.4(TTC14):c.1526G>A (p.Arg509His)	TTC14 (R509H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2218878	NM_133462.4(TTC14):c.1540C>T (p.Arg514Cys)	TTC14 (R514C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3184080	NM_133462.4(TTC14):c.1571C>A (p.Ser524Tyr)	TTC14 (S524Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2616088	NM_133462.4(TTC14):c.1624A>G (p.Asn542Asp)	TTC14 (N542D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2400345	NM_133462.4(TTC14):c.1684G>A (p.Asp562Asn)	TTC14 (D562N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2314885	NM_133462.4(TTC14):c.1721A>G (p.Lys574Arg)	TTC14 (K574R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2222820	NM_133462.4(TTC14):c.1735C>G (p.Leu579Val)	TTC14 (L579V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2326193	NM_133462.4(TTC14):c.1788T>G (p.Asp596Glu)	TTC14 (D596E)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3046120	NM_133462.4(TTC14):c.1806C>T (p.Asn602=)	TTC14	Single nucleotide variant (3 prime UTR variant +2 more)	TTC14-related disorder	GLikely benign
Select item 3184081	NM_133462.4(TTC14):c.1810T>A (p.Tyr604Asn)	TTC14 (Y604N)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2308938	NM_133462.4(TTC14):c.1811A>C (p.Tyr604Ser)	TTC14 (Y604S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3329768	NM_133462.4(TTC14):c.1850A>G (p.Tyr617Cys)	TTC14 (Y617C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2311629	NM_133462.4(TTC14):c.2005T>C (p.Ser669Pro)	TTC14 (S669P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3050923	NM_133462.4(TTC14):c.2034T>C (p.Ser678=)	TTC14	Single nucleotide variant (3 prime UTR variant +2 more)	TTC14-related disorder	GLikely benign
Select item 2348237	NM_133462.4(TTC14):c.2065G>A (p.Ala689Thr)	TTC14 (A689T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2247734	NM_133462.4(TTC14):c.2120C>T (p.Thr707Ile)	TTC14 (T707I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2598117	NM_133462.4(TTC14):c.2125C>A (p.Gln709Lys)	TTC14 (Q709K)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2473771	NM_133462.4(TTC14):c.2137G>A (p.Glu713Lys)	TTC14 (E713K)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3051068	NM_133462.4(TTC14):c.2177T>C (p.Val726Ala)	TTC14 (V726A)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2404104	NM_133462.4(TTC14):c.2288A>G (p.Glu763Gly)	TTC14 (E763G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance

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Items: 51