ClinVar for Gene (Select 342372) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306936	NM_181536.2(PKD1L3):c.1648G>T (p.Asp550Tyr)	PKD1L3 (D550Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306935	NM_181536.2(PKD1L3):c.1719C>G (p.His573Gln)	PKD1L3 (H573Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306934	NM_181536.2(PKD1L3):c.1661C>T (p.Pro554Leu)	PKD1L3 (P554L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306933	NM_181536.2(PKD1L3):c.3316A>T (p.Ser1106Cys)	PKD1L3 (S1106C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306932	NM_181536.2(PKD1L3):c.1015A>G (p.Ile339Val)	PKD1L3 (I339V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306931	NM_181536.2(PKD1L3):c.2317C>T (p.Arg773Trp)	PKD1L3 (R773W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306930	NM_181536.2(PKD1L3):c.1694A>G (p.Tyr565Cys)	PKD1L3 (Y565C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306929	NM_181536.2(PKD1L3):c.683C>G (p.Pro228Arg)	PKD1L3 (P228R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306928	NM_181536.2(PKD1L3):c.3365C>A (p.Thr1122Lys)	PKD1L3 (T1122K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306927	NM_181536.2(PKD1L3):c.3058C>T (p.Leu1020Phe)	PKD1L3 (L1020F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306926	NM_181536.2(PKD1L3):c.391C>G (p.Leu131Val)	PKD1L3 (L131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306925	NM_181536.2(PKD1L3):c.2459C>T (p.Pro820Leu)	PKD1L3 (P820L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306924	NM_181536.2(PKD1L3):c.3050C>T (p.Thr1017Ile)	PKD1L3 (T1017I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306923	NM_181536.2(PKD1L3):c.2615A>C (p.His872Pro)	PKD1L3 (H872P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306922	NM_181536.2(PKD1L3):c.3187C>T (p.Arg1063Cys)	PKD1L3 (R1063C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306921	NM_181536.2(PKD1L3):c.1699C>T (p.Pro567Ser)	PKD1L3 (P567S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306919	NM_181536.2(PKD1L3):c.278A>C (p.Gln93Pro)	PKD1L3 (Q93P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243655	NC_000016.9:g.(?_70286624)_(72146396_?)del	COG4, AARS1 +27 more	Deletion	not provided	GPathogenic
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AARS1, AP1G1 +51 more	Deletion	Immunodeficiency	GUncertain significance
Select item 3213664	NM_181536.2(PKD1L3):c.934G>T (p.Ala312Ser)	PKD1L3 (A312S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213663	NM_181536.2(PKD1L3):c.775G>A (p.Gly259Ser)	PKD1L3 (G259S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3213662	NM_181536.2(PKD1L3):c.681G>C (p.Gln227His)	PKD1L3 (Q227H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213661	NM_181536.2(PKD1L3):c.509C>T (p.Ala170Val)	PKD1L3 (A170V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213660	NM_181536.2(PKD1L3):c.3373G>A (p.Glu1125Lys)	PKD1L3 (E1125K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213659	NM_181536.2(PKD1L3):c.3336G>C (p.Gln1112His)	PKD1L3 (Q1112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213658	NM_181536.2(PKD1L3):c.2998A>G (p.Met1000Val)	PKD1L3 (M1000V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213657	NM_181536.2(PKD1L3):c.2890A>G (p.Ile964Val)	PKD1L3 (I964V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213656	NM_181536.2(PKD1L3):c.2746A>C (p.Asn916His)	PKD1L3 (N916H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213655	NM_181536.2(PKD1L3):c.2684A>C (p.His895Pro)	PKD1L3 (H895P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213654	NM_181536.2(PKD1L3):c.2558G>C (p.Cys853Ser)	PKD1L3 (C853S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213653	NM_181536.2(PKD1L3):c.2261G>A (p.Arg754Gln)	PKD1L3 (R754Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213652	NM_181536.2(PKD1L3):c.2177T>A (p.Met726Lys)	PKD1L3 (M726K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213651	NM_181536.2(PKD1L3):c.2168A>T (p.Gln723Leu)	PKD1L3 (Q723L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213650	NM_181536.2(PKD1L3):c.2156G>A (p.Arg719Gln)	PKD1L3 (R719Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213649	NM_181536.2(PKD1L3):c.2150G>C (p.Trp717Ser)	PKD1L3 (W717S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213648	NM_181536.2(PKD1L3):c.212G>A (p.Arg71Gln)	PKD1L3 (R71Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213647	NM_181536.2(PKD1L3):c.2092C>T (p.Pro698Ser)	PKD1L3 (P698S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213646	NM_181536.2(PKD1L3):c.2078G>A (p.Arg693His)	PKD1L3 (R693H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213645	NM_181536.2(PKD1L3):c.2048A>G (p.Asn683Ser)	PKD1L3 (N683S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213644	NM_181536.2(PKD1L3):c.2023T>G (p.Phe675Val)	PKD1L3 (F675V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213643	NM_181536.2(PKD1L3):c.2019C>A (p.Ser673Arg)	PKD1L3 (S673R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213642	NM_181536.2(PKD1L3):c.1936A>G (p.Ser646Gly)	PKD1L3 (S646G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213641	NM_181536.2(PKD1L3):c.1804G>A (p.Gly602Arg)	PKD1L3 (G602R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213640	NM_181536.2(PKD1L3):c.1643G>A (p.Ser548Asn)	PKD1L3 (S548N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213639	NM_181536.2(PKD1L3):c.1550G>A (p.Ser517Asn)	PKD1L3 (S517N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213638	NM_181536.2(PKD1L3):c.1513A>G (p.Met505Val)	PKD1L3 (M505V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3213637	NM_181536.2(PKD1L3):c.1393G>A (p.Val465Ile)	PKD1L3 (V465I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213636	NM_181536.2(PKD1L3):c.1346C>T (p.Ser449Leu)	PKD1L3 (S449L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213635	NM_181536.2(PKD1L3):c.1100C>G (p.Ala367Gly)	PKD1L3 (A367G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024605	GRCh37/hg19 16q22.2(chr16:71949529-72058098)x1	DHODH, IST1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685575	GRCh37/hg19 16q22.1-22.3(chr16:69709450-73535741)x1	AARS1, AP1G1 +40 more	Copy number loss	not provided	GPathogenic
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2646804	NM_181536.2(PKD1L3):c.1442G>C (p.Arg481Thr)	PKD1L3 (R481T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2646803	NM_181536.2(PKD1L3):c.2220C>A (p.Ser740Arg)	PKD1L3 (S740R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2622813	NM_181536.2(PKD1L3):c.1794T>A (p.His598Gln)	PKD1L3 (H598Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622159	NM_181536.2(PKD1L3):c.3508T>C (p.Phe1170Leu)	PKD1L3 (F1170L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613552	NM_181536.2(PKD1L3):c.2615A>G (p.His872Arg)	PKD1L3 (H872R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609201	NM_181536.2(PKD1L3):c.2734C>G (p.Leu912Val)	PKD1L3 (L912V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602972	NM_181536.2(PKD1L3):c.2584G>C (p.Val862Leu)	PKD1L3 (V862L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601582	NM_181536.2(PKD1L3):c.149A>C (p.Tyr50Ser)	PKD1L3 (Y50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599399	NM_181536.2(PKD1L3):c.1586C>T (p.Thr529Ile)	PKD1L3 (T529I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592193	NM_181536.2(PKD1L3):c.1985A>T (p.Gln662Leu)	PKD1L3 (Q662L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591348	NM_181536.2(PKD1L3):c.871G>A (p.Val291Ile)	PKD1L3 (V291I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2570477	NM_181536.2(PKD1L3):c.1036A>C (p.Ser346Arg)	PKD1L3 (S346R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555511	NM_181536.2(PKD1L3):c.1027A>G (p.Asn343Asp)	PKD1L3 (N343D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551623	NM_181536.2(PKD1L3):c.191A>G (p.Lys64Arg)	PKD1L3 (K64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541980	NM_181536.2(PKD1L3):c.79G>C (p.Ala27Pro)	PKD1L3 (A27P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539556	NM_181536.2(PKD1L3):c.778C>T (p.His260Tyr)	PKD1L3 (H260Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531045	NM_181536.2(PKD1L3):c.1804G>C (p.Gly602Arg)	PKD1L3 (G602R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530691	NM_181536.2(PKD1L3):c.3398T>A (p.Phe1133Tyr)	PKD1L3 (F1133Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526958	NM_181536.2(PKD1L3):c.1069C>T (p.Pro357Ser)	PKD1L3 (P357S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526550	NM_181536.2(PKD1L3):c.1012A>T (p.Arg338Trp)	PKD1L3 (R338W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523061	NM_181536.2(PKD1L3):c.2389C>T (p.Leu797Phe)	PKD1L3 (L797F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521869	NM_181536.2(PKD1L3):c.1049A>G (p.Lys350Arg)	PKD1L3 (K350R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520084	NM_181536.2(PKD1L3):c.3290A>C (p.Gln1097Pro)	PKD1L3 (Q1097P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517855	NM_181536.2(PKD1L3):c.973C>T (p.Leu325Phe)	PKD1L3 (L325F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516699	NM_181536.2(PKD1L3):c.2315G>T (p.Gly772Val)	PKD1L3 (G772V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512759	NM_181536.2(PKD1L3):c.485A>C (p.His162Pro)	PKD1L3 (H162P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2511210	NM_181536.2(PKD1L3):c.514G>T (p.Ala172Ser)	PKD1L3 (A172S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492911	NM_181536.2(PKD1L3):c.3376C>T (p.Pro1126Ser)	PKD1L3 (P1126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488413	NM_181536.2(PKD1L3):c.1803C>G (p.His601Gln)	PKD1L3 (H601Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488134	NM_181536.2(PKD1L3):c.766A>G (p.Lys256Glu)	PKD1L3 (K256E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486003	NM_181536.2(PKD1L3):c.994C>G (p.Leu332Val)	PKD1L3 (L332V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485345	NM_181536.2(PKD1L3):c.1463G>C (p.Gly488Ala)	PKD1L3 (G488A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472858	NM_181536.2(PKD1L3):c.3175C>T (p.Arg1059Cys)	PKD1L3 (R1059C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472756	NM_181536.2(PKD1L3):c.2155C>G (p.Arg719Gly)	PKD1L3 (R719G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469172	NM_181536.2(PKD1L3):c.14G>T (p.Gly5Val)	PKD1L3 (G5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467851	NM_181536.2(PKD1L3):c.3068G>C (p.Cys1023Ser)	PKD1L3 (C1023S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464388	NM_181536.2(PKD1L3):c.2044G>A (p.Val682Met)	PKD1L3 (V682M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456514	NM_181536.2(PKD1L3):c.1894G>A (p.Val632Ile)	PKD1L3 (V632I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456510	NM_181536.2(PKD1L3):c.3396T>G (p.Ser1132Arg)	PKD1L3 (S1132R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455468	NM_181536.2(PKD1L3):c.1142C>T (p.Pro381Leu)	PKD1L3 (P381L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454611	NM_181536.2(PKD1L3):c.1828G>A (p.Ala610Thr)	PKD1L3 (A610T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2411520	NM_181536.2(PKD1L3):c.1487G>A (p.Arg496His)	PKD1L3 (R496H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2409959	NM_181536.2(PKD1L3):c.2593A>G (p.Arg865Gly)	PKD1L3 (R865G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400260	NM_181536.2(PKD1L3):c.2077C>T (p.Arg693Cys)	PKD1L3 (R693C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399209	NM_181536.2(PKD1L3):c.1803C>A (p.His601Gln)	PKD1L3 (H601Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387111	NM_181536.2(PKD1L3):c.3304C>G (p.Leu1102Val)	PKD1L3 (L1102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385523	NM_181536.2(PKD1L3):c.1871G>A (p.Ser624Asn)	PKD1L3 (S624N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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