29029[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 2397231	NM_001303457.2(TTI1):c.3233C>T (p.Thr1078Met)	TTI1 (T1078M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184481	NM_001303457.2(TTI1):c.3214G>A (p.Gly1072Arg)	TTI1 (G1072R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184480	NM_001303457.2(TTI1):c.3208G>A (p.Ala1070Thr)	TTI1 (A1070T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184479	NM_001303457.2(TTI1):c.3102G>C (p.Leu1034Phe)	TTI1 (L1034F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292345	NM_001303457.2(TTI1):c.3094C>T (p.Leu1032Phe)	TTI1 (L1032F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184478	NM_001303457.2(TTI1):c.3026A>C (p.Asp1009Ala)	TTI1 (D1009A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2499554	NM_001303457.2(TTI1):c.2998+2T>C	TTI1	Single nucleotide variant (splice donor variant)	Intellectual disability, severe	GPathogenic
Select item 2664648	NM_001303457.2(TTI1):c.2990T>C (p.Leu997Pro)	TTI1 (L997P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2573169	NM_001303457.2(TTI1):c.2978T>G (p.Leu993Arg)	TTI1 (L993R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and movement abnormalities	GPathogenic
Select item 3184477	NM_001303457.2(TTI1):c.2924C>G (p.Ser975Trp)	TTI1 (S975W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620035	NM_001303457.2(TTI1):c.2918T>C (p.Val973Ala)	TTI1 (V973A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297573	NM_001303457.2(TTI1):c.2878C>A (p.Leu960Ile)	TTI1 (L960I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184476	NM_001303457.2(TTI1):c.2872G>A (p.Gly958Ser)	TTI1 (G958S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520474	NM_001303457.2(TTI1):c.2863A>G (p.Lys955Glu)	TTI1 (K955E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388408	NM_001303457.2(TTI1):c.2801G>A (p.Arg934His)	TTI1 (R934H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329941	NM_001303457.2(TTI1):c.2800C>T (p.Arg934Cys)	TTI1 (R934C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184475	NM_001303457.2(TTI1):c.2800C>A (p.Arg934Ser)	TTI1 (R934S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713736	NM_001303457.2(TTI1):c.2793+9C>T	TTI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2475441	NM_001303457.2(TTI1):c.2790C>G (p.Phe930Leu)	TTI1 (F930L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 402171	NM_001303457.2(TTI1):c.2761G>A (p.Asp921Asn)	TTI1 (D921N)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 2225460	NM_001303457.2(TTI1):c.2758C>T (p.Arg920Trp)	TTI1 (R920W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184474	NM_001303457.2(TTI1):c.2750G>A (p.Arg917Gln)	TTI1 (R917Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3365447	NM_001303457.2(TTI1):c.2743G>A (p.Val915Ile)	TTI1 (V915I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652310	NM_001303457.2(TTI1):c.2703C>T (p.Asn901=)	TTI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2266044	NM_001303457.2(TTI1):c.2662G>A (p.Val888Met)	TTI1 (V888M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598681	NM_001303457.2(TTI1):c.2605C>T (p.Arg869Cys)	TTI1 (R869C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225720	NM_001303457.2(TTI1):c.2584A>G (p.Ile862Val)	TTI1 (I862V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2499555	NM_001303457.2(TTI1):c.2513C>T (p.Ser838Leu)	TTI1 (S838L)	Single nucleotide variant (missense variant)	Intellectual disability, severe	GLikely pathogenic
Select item 2391824	NM_001303457.2(TTI1):c.2455G>A (p.Glu819Lys)	TTI1 (E819K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392309	NM_001303457.2(TTI1):c.2454A>C (p.Lys818Asn)	TTI1 (K818N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184472	NM_001303457.2(TTI1):c.2441T>C (p.Leu814Pro)	TTI1 (L814P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184471	NM_001303457.2(TTI1):c.2429A>G (p.Glu810Gly)	TTI1 (E810G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 779188	NM_001303457.2(TTI1):c.2385A>G (p.Arg795=)	TTI1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2356489	NM_001303457.2(TTI1):c.2324G>C (p.Gly775Ala)	TTI1 (G775A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227615	NM_001303457.2(TTI1):c.2321C>T (p.Thr774Ile)	TTI1 (T774I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2573167	NM_001303457.2(TTI1):c.2302+1G>T	TTI1	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with microcephaly and movement abnormalities	GPathogenic
Select item 2573166	NM_001303457.2(TTI1):c.2300T>C (p.Leu767Ser)	TTI1 (L767S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and movement abnormalities	GPathogenic
Select item 3184470	NM_001303457.2(TTI1):c.2275G>A (p.Val759Ile)	TTI1 (V759I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184469	NM_001303457.2(TTI1):c.2248G>A (p.Asp750Asn)	TTI1 (D750N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231494	NM_001303457.2(TTI1):c.2233C>G (p.Leu745Val)	TTI1 (L745V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184468	NM_001303457.2(TTI1):c.2207A>T (p.Asp736Val)	TTI1 (D736V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184467	NM_001303457.2(TTI1):c.2195C>A (p.Pro732His)	TTI1 (P732H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283624	NM_001303457.2(TTI1):c.2194C>G (p.Pro732Ala)	TTI1 (P732A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328831	NM_001303457.2(TTI1):c.2155C>G (p.Leu719Val)	TTI1 (L719V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184466	NM_001303457.2(TTI1):c.2128G>T (p.Ala710Ser)	TTI1 (A710S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2279656	NM_001303457.2(TTI1):c.2104A>G (p.Ile702Val)	TTI1 (I702V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518322	NM_001303457.2(TTI1):c.2053G>A (p.Asp685Asn)	TTI1 (D685N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2595687	NM_001303457.2(TTI1):c.2038C>T (p.Arg680Cys)	TTI1 (R680C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3336834	NM_001303457.2(TTI1):c.2011G>A (p.Ala671Thr)	TTI1 (A671T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and movement abnormalities	GLikely pathogenic
Select item 2362399	NM_001303457.2(TTI1):c.1996C>T (p.Leu666Phe)	TTI1 (L666F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329943	NM_001303457.2(TTI1):c.1961A>T (p.Tyr654Phe)	TTI1 (Y654F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329948	NM_001303457.2(TTI1):c.1949T>C (p.Met650Thr)	TTI1 (M650T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3365191	NM_001303457.2(TTI1):c.1901T>C (p.Ile634Thr)	TTI1 (I634T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3184465	NM_001303457.2(TTI1):c.1900A>G (p.Ile634Val)	TTI1 (I634V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478943	NM_001303457.2(TTI1):c.1885A>G (p.Ile629Val)	TTI1 (I629V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403955	NM_001303457.2(TTI1):c.1774C>T (p.Leu592Phe)	TTI1 (L592F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777299	NM_001303457.2(TTI1):c.1753C>T (p.Leu585=)	TTI1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2237027	NM_001303457.2(TTI1):c.1742T>C (p.Met581Thr)	TTI1 (M581T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465432	NM_001303457.2(TTI1):c.1717G>T (p.Val573Phe)	TTI1 (V573F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329944	NM_001303457.2(TTI1):c.1712A>T (p.Tyr571Phe)	TTI1 (Y571F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294434	NM_001303457.2(TTI1):c.1702G>C (p.Glu568Gln)	TTI1 (E568Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2652311	NM_001303457.2(TTI1):c.1701A>G (p.Gln567=)	TTI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2337922	NM_001303457.2(TTI1):c.1673C>A (p.Thr558Lys)	TTI1 (T558K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 719835	NM_001303457.2(TTI1):c.1626C>T (p.His542=)	TTI1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2517743	NM_001303457.2(TTI1):c.1570A>G (p.Met524Val)	TTI1 (M524V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531319	NM_001303457.2(TTI1):c.1568C>G (p.Ala523Gly)	TTI1 (A523G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231380	NM_001303457.2(TTI1):c.1537C>T (p.His513Tyr)	TTI1 (H513Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2216324	NM_001303457.2(TTI1):c.1501C>A (p.Leu501Ile)	TTI1 (L501I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329945	NM_001303457.2(TTI1):c.1449A>T (p.Arg483Ser)	TTI1 (R483S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366341	NM_001303457.2(TTI1):c.1430G>A (p.Arg477His)	TTI1 (R477H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3184463	NM_001303457.2(TTI1):c.1429C>T (p.Arg477Cys)	TTI1 (R477C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2652312	NM_001303457.2(TTI1):c.1349G>A (p.Arg450His)	TTI1 (R450H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3329947	NM_001303457.2(TTI1):c.1346G>A (p.Arg449Gln)	TTI1 (R449Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491255	NM_001303457.2(TTI1):c.1345C>T (p.Arg449Trp)	TTI1 (R449W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184462	NM_001303457.2(TTI1):c.1339G>A (p.Glu447Lys)	TTI1 (E447K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 738704	NM_001303457.2(TTI1):c.1311G>A (p.Glu437=)	TTI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3184461	NM_001303457.2(TTI1):c.1309G>A (p.Glu437Lys)	TTI1 (E437K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2691770	NM_001303457.2(TTI1):c.1271A>G (p.His424Arg)	TTI1 (H424R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and movement abnormalities	GLikely pathogenic
Select item 2608238	NM_001303457.2(TTI1):c.1208T>C (p.Leu403Ser)	TTI1 (L403S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329946	NM_001303457.2(TTI1):c.1196C>G (p.Ser399Cys)	TTI1 (S399C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292779	NM_001303457.2(TTI1):c.1156C>G (p.Pro386Ala)	TTI1 (P386A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391188	NM_001303457.2(TTI1):c.1131C>G (p.Ser377Arg)	TTI1 (S377R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610612	NM_001303457.2(TTI1):c.1030A>C (p.Ser344Arg)	TTI1 (S344R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184460	NM_001303457.2(TTI1):c.1029G>C (p.Glu343Asp)	TTI1 (E343D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613350	NM_001303457.2(TTI1):c.986C>G (p.Ala329Gly)	TTI1 (A329G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184484	NM_001303457.2(TTI1):c.962G>T (p.Cys321Phe)	TTI1 (C321F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224434	NM_001303457.2(TTI1):c.940G>A (p.Val314Met)	TTI1 (V314M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266850	NM_001303457.2(TTI1):c.932T>C (p.Val311Ala)	TTI1 (V311A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732742	NM_001303457.2(TTI1):c.858G>A (p.Lys286=)	TTI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2573168	NM_001303457.2(TTI1):c.835T>G (p.Trp279Gly)	TTI1 (W279G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and movement abnormalities	GPathogenic
Select item 2455281	NM_001303457.2(TTI1):c.742G>T (p.Ala248Ser)	TTI1 (A248S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215817	NM_001303457.2(TTI1):c.710A>C (p.Lys237Thr)	TTI1 (K237T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184483	NM_001303457.2(TTI1):c.688A>C (p.Ser230Arg)	TTI1 (S230R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311010	NM_001303457.2(TTI1):c.673T>C (p.Phe225Leu)	TTI1 (F225L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2691769	NM_001303457.2(TTI1):c.629dup (p.Leu210fs)	TTI1 (L210fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with microcephaly and movement abnormalities	GUncertain significance
Select item 3184482	NM_001303457.2(TTI1):c.620C>A (p.Ala207Asp)	TTI1 (A207D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269187	NM_001303457.2(TTI1):c.614T>G (p.Leu205Trp)	TTI1 (L205W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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