"Ambry Genetics"[submitter] AND "HYDIN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2235825	NM_001270974.2(HYDIN):c.14932G>A (p.Gly4978Arg)	HYDIN (G4978R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212716	NM_001270974.2(HYDIN):c.14504T>A (p.Ile4835Asn)	HYDIN (I4835N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244146	NM_001270974.2(HYDIN):c.14186A>G (p.Lys4729Arg)	HYDIN (K4729R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265704	NM_001270974.2(HYDIN):c.12360C>A (p.Phe4120Leu)	HYDIN (F4120L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374702	NM_001270974.2(HYDIN):c.12133G>A (p.Val4045Met)	HYDIN (V4045M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255576	NM_001270974.2(HYDIN):c.12109C>T (p.His4037Tyr)	HYDIN (H4037Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237693	NM_001270974.2(HYDIN):c.12053T>A (p.Ile4018Asn)	HYDIN (I4018N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342365	NM_001270974.2(HYDIN):c.11920G>C (p.Gly3974Arg)	HYDIN (G3974R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363898	NM_001270974.2(HYDIN):c.11894G>A (p.Arg3965His)	HYDIN (R3965H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212775	NM_001270974.2(HYDIN):c.11830C>T (p.Arg3944Trp)	HYDIN (R3944W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260472	NM_001270974.2(HYDIN):c.11636T>C (p.Met3879Thr)	HYDIN (M3879T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2217041	NM_001270974.2(HYDIN):c.11602A>G (p.Thr3868Ala)	HYDIN (T3868A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216356	NM_001270974.2(HYDIN):c.11476G>C (p.Asp3826His)	HYDIN (D3826H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237127	NM_001270974.2(HYDIN):c.11295C>G (p.Phe3765Leu)	HYDIN (F3765L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2207665	NM_001270974.2(HYDIN):c.10609C>G (p.Pro3537Ala)	HYDIN (P3537A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5 +1 more	GUncertain significance
Select item 2222882	NM_001270974.2(HYDIN):c.10550C>T (p.Pro3517Leu)	HYDIN (P3517L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221742	NM_001270974.2(HYDIN):c.10427G>A (p.Arg3476Gln)	HYDIN (R3476Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242256	NM_001270974.2(HYDIN):c.10401C>G (p.Asp3467Glu)	HYDIN (D3467E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212982	NM_001270974.2(HYDIN):c.10226G>A (p.Arg3409His)	HYDIN (R3409H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242904	NM_001270974.2(HYDIN):c.10141G>T (p.Ala3381Ser)	HYDIN (A3381S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249746	NM_001270974.2(HYDIN):c.10114A>G (p.Asn3372Asp)	HYDIN (N3372D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256987	NM_001270974.2(HYDIN):c.10027T>A (p.Cys3343Ser)	HYDIN (C3343S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240820	NM_001270974.2(HYDIN):c.9829T>C (p.Ser3277Pro)	HYDIN (S3277P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2245677	NM_001270974.2(HYDIN):c.9770G>A (p.Gly3257Asp)	HYDIN (G3257D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224465	NM_001270974.2(HYDIN):c.9697A>G (p.Ser3233Gly)	HYDIN (S3233G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224560	NM_001270974.2(HYDIN):c.9610G>A (p.Ala3204Thr)	HYDIN (A3204T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213897	NM_001270974.2(HYDIN):c.9557G>A (p.Arg3186His)	HYDIN (R3186H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236110	NM_001270974.2(HYDIN):c.9424G>A (p.Glu3142Lys)	HYDIN (E3142K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219100	NM_001270974.2(HYDIN):c.9238A>G (p.Ile3080Val)	HYDIN (I3080V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376749	NM_001270974.2(HYDIN):c.8971C>A (p.Pro2991Thr)	HYDIN (P2991T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257199	NM_001270974.2(HYDIN):c.8971C>G (p.Pro2991Ala)	HYDIN (P2991A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217303	NM_001270974.2(HYDIN):c.8876G>A (p.Arg2959His)	HYDIN (R2959H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244110	NM_001270974.2(HYDIN):c.8861G>A (p.Arg2954Lys)	HYDIN (R2954K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2212083	NM_001270974.2(HYDIN):c.8744A>G (p.Asn2915Ser)	HYDIN (N2915S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2246433	NM_001270974.2(HYDIN):c.8579T>C (p.Met2860Thr)	HYDIN (M2860T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217498	NM_001270974.2(HYDIN):c.8262G>T (p.Leu2754Phe)	HYDIN (L2754F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232336	NM_001270974.2(HYDIN):c.8228G>T (p.Arg2743Leu)	HYDIN (R2743L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221320	NM_001270974.2(HYDIN):c.8227C>T (p.Arg2743Trp)	HYDIN (R2743W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400638	NM_001270974.2(HYDIN):c.7703T>A (p.Phe2568Tyr)	HYDIN (F2568Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213896	NM_001270974.2(HYDIN):c.7622C>T (p.Ala2541Val)	HYDIN (A2541V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238998	NM_001270974.2(HYDIN):c.7416G>A (p.Met2472Ile)	HYDIN (M2472I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242257	NM_001270974.2(HYDIN):c.7123C>T (p.Pro2375Ser)	HYDIN (P2375S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235683	NM_001270974.2(HYDIN):c.6965T>C (p.Ile2322Thr)	HYDIN (I2322T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259361	NM_001270974.2(HYDIN):c.6866A>C (p.Lys2289Thr)	HYDIN (K2289T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240714	NM_001270974.2(HYDIN):c.6509C>T (p.Ser2170Leu)	HYDIN (S2170L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246806	NM_001270974.2(HYDIN):c.6031C>T (p.Pro2011Ser)	HYDIN (P2011S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107737	NM_001270974.2(HYDIN):c.5714A>G (p.Tyr1905Cys)	HYDIN (Y1905C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242715	NM_001270974.2(HYDIN):c.5447G>A (p.Arg1816His)	HYDIN (R1816H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107736	NM_001270974.2(HYDIN):c.4658T>C (p.Met1553Thr)	HYDIN (M1553T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215091	NM_001270974.2(HYDIN):c.4513A>G (p.Asn1505Asp)	HYDIN (N1505D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247353	NM_001270974.2(HYDIN):c.4361T>C (p.Val1454Ala)	HYDIN (V1454A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2222973	NM_001270974.2(HYDIN):c.4360G>T (p.Val1454Leu)	HYDIN (V1454L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218223	NM_001270974.2(HYDIN):c.3961A>G (p.Met1321Val)	HYDIN (M1321V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222146	NM_001270974.2(HYDIN):c.3478G>A (p.Gly1160Arg)	HYDIN (G1160R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220481	NM_001270974.2(HYDIN):c.3458T>C (p.Ile1153Thr)	HYDIN (I1153T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278664	NM_001270974.2(HYDIN):c.3022G>A (p.Gly1008Ser)	HYDIN (G1008S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291034	NM_001270974.2(HYDIN):c.3017T>C (p.Leu1006Pro)	HYDIN (L1006P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107735	NM_001270974.2(HYDIN):c.2978G>A (p.Ser993Asn)	HYDIN (S993N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1300007	NM_001270974.2(HYDIN):c.2974G>A (p.Ala992Thr)	HYDIN (A992T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3285123	NM_001270974.2(HYDIN):c.2956G>A (p.Val986Met)	HYDIN (V986M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284264	NM_001270974.2(HYDIN):c.2934G>T (p.Glu978Asp)	HYDIN (E978D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238561	NM_001270974.2(HYDIN):c.2902C>G (p.His968Asp)	HYDIN (H968D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229623	NM_001270974.2(HYDIN):c.2813G>A (p.Arg938His)	HYDIN (R938H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523320	NM_001270974.2(HYDIN):c.2786A>T (p.Tyr929Phe)	HYDIN (Y929F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107734	NM_001270974.2(HYDIN):c.2716A>G (p.Ile906Val)	HYDIN (I923V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107733	NM_001270974.2(HYDIN):c.2677T>C (p.Tyr893His)	HYDIN (Y910H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295032	NM_001270974.2(HYDIN):c.2603C>T (p.Ala868Val)	HYDIN (A885V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324467	NM_001270974.2(HYDIN):c.2574G>A (p.Met858Ile)	HYDIN (M885I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283993	NM_001270974.2(HYDIN):c.2567A>G (p.Glu856Gly)	HYDIN (E873G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226146	NM_001270974.2(HYDIN):c.2371C>T (p.Pro791Ser)	HYDIN (P791S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107732	NM_001270974.2(HYDIN):c.2350A>G (p.Ile784Val)	HYDIN (I784V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2225203	NM_001270974.2(HYDIN):c.2329A>G (p.Arg777Gly)	HYDIN (R794G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3107731	NM_001270974.2(HYDIN):c.2288A>G (p.His763Arg)	HYDIN (H790R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471345	NM_001270974.2(HYDIN):c.2284A>G (p.Ile762Val)	HYDIN (I779V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3107730	NM_001270974.2(HYDIN):c.2281A>T (p.Thr761Ser)	HYDIN (T778S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107729	NM_001270974.2(HYDIN):c.2263G>T (p.Val755Phe)	HYDIN (V782F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3285127	NM_001270974.2(HYDIN):c.2253C>T (p.Thr751=)	HYDIN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2212579	NM_001270974.2(HYDIN):c.2252C>G (p.Thr751Ser)	HYDIN (T751S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2218909	NM_001270974.2(HYDIN):c.2230A>C (p.Thr744Pro)	HYDIN (T761P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233348	NM_001270974.2(HYDIN):c.2168C>G (p.Ala723Gly)	HYDIN (A723G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282883	NM_001270974.2(HYDIN):c.2143C>T (p.Pro715Ser)	HYDIN (P715S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296508	NM_001270974.2(HYDIN):c.2123G>A (p.Gly708Glu)	HYDIN (G708E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471187	NM_001270974.2(HYDIN):c.2107A>G (p.Thr703Ala)	HYDIN (T703A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486783	NM_001270974.2(HYDIN):c.2086C>G (p.Pro696Ala)	HYDIN (P723A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3285128	NM_001270974.2(HYDIN):c.2069C>G (p.Thr690Arg)	HYDIN (T717R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107728	NM_001270974.2(HYDIN):c.2056G>A (p.Ala686Thr)	HYDIN (A686T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214708	NM_001270974.2(HYDIN):c.1969A>G (p.Ile657Val)	HYDIN (I657V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551847	NM_001270974.2(HYDIN):c.1928C>T (p.Ser643Phe)	HYDIN (S643F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601660	NM_001270974.2(HYDIN):c.1924A>G (p.Ile642Val)	HYDIN (I642V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2337850	NM_001270974.2(HYDIN):c.1903A>G (p.Met635Val)	HYDIN (M635V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107727	NM_001270974.2(HYDIN):c.1894A>G (p.Ile632Val)	HYDIN (I632V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226000	NM_001270974.2(HYDIN):c.1883C>A (p.Thr628Asn)	HYDIN (T628N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2213438	NM_001270974.2(HYDIN):c.1865A>G (p.Tyr622Cys)	HYDIN (Y622C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3107726	NM_001270974.2(HYDIN):c.1801C>G (p.Leu601Val)	HYDIN (L628V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278421	NM_001270974.2(HYDIN):c.1736T>C (p.Phe579Ser)	HYDIN, LOC126862387 (F579S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275891	NM_001270974.2(HYDIN):c.1717C>T (p.His573Tyr)	HYDIN, LOC126862387 (H573Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269023	NM_001270974.2(HYDIN):c.1645C>T (p.Pro549Ser)	HYDIN (P549S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525442	NM_001270974.2(HYDIN):c.1546A>C (p.Ile516Leu)	HYDIN (I516L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469958	NM_001270974.2(HYDIN):c.1517C>A (p.Ala506Asp)	HYDIN (A506D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107724	NM_001270974.2(HYDIN):c.1487A>G (p.Asn496Ser)	HYDIN (N513S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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