17897[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 148826	GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3	ACTR6, ANKS1B +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 147867	GRCh38/hg38 12q23.2(chr12:101203029-101486159)x3	ARL1, LOC126861611 +5 more	Copy number gain	See cases	GBenign
Select item 2258877	NM_014503.3(UTP20):c.7A>C (p.Thr3Pro)	UTP20 (T3P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3187911	NM_014503.3(UTP20):c.23A>G (p.His8Arg)	UTP20 (H8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707902	NM_014503.3(UTP20):c.54A>G (p.Thr18=)	UTP20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3187956	NM_014503.3(UTP20):c.97C>T (p.Arg33Trp)	UTP20 (R33W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356502	NM_014503.3(UTP20):c.262A>G (p.Ile88Val)	UTP20 (I88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218019	NM_014503.3(UTP20):c.319C>G (p.Leu107Val)	UTP20 (L107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187919	NM_014503.3(UTP20):c.349G>T (p.Asp117Tyr)	UTP20 (D117Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187924	NM_014503.3(UTP20):c.404C>T (p.Ser135Leu)	UTP20 (S135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786233	NM_014503.3(UTP20):c.405G>A (p.Ser135=)	UTP20	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2493982	NM_014503.3(UTP20):c.415A>G (p.Thr139Ala)	UTP20 (T139A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206299	NM_014503.3(UTP20):c.500T>C (p.Met167Thr)	UTP20 (M167T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781260	NM_014503.3(UTP20):c.501G>A (p.Met167Ile)	UTP20 (M167I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2570553	NM_014503.3(UTP20):c.553A>G (p.Ile185Val)	UTP20 (I185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599247	NM_014503.3(UTP20):c.653C>G (p.Pro218Arg)	UTP20 (P218R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331728	NM_014503.3(UTP20):c.658A>G (p.Lys220Glu)	UTP20 (K220E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773548	NM_014503.3(UTP20):c.735+8A>C	UTP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2395993	NM_014503.3(UTP20):c.755G>A (p.Arg252Gln)	UTP20 (R252Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2618823	NM_014503.3(UTP20):c.796T>C (p.Trp266Arg)	UTP20 (W266R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270124	NM_014503.3(UTP20):c.809G>A (p.Gly270Glu)	UTP20 (G270E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 762534	NM_014503.3(UTP20):c.819C>T (p.Leu273=)	UTP20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2235212	NM_014503.3(UTP20):c.835T>A (p.Ser279Thr)	UTP20 (S279T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782221	NM_014503.3(UTP20):c.912C>T (p.His304=)	UTP20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2217610	NM_014503.3(UTP20):c.958A>C (p.Lys320Gln)	UTP20 (K320Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187955	NM_014503.3(UTP20):c.972A>T (p.Glu324Asp)	UTP20 (E324D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782332	NM_014503.3(UTP20):c.1015C>A (p.Pro339Thr)	UTP20 (P339T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3187905	NM_014503.3(UTP20):c.1024G>A (p.Ala342Thr)	UTP20 (A342T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336749	NM_014503.3(UTP20):c.1052C>T (p.Thr351Ile)	UTP20 (T351I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707903	NM_014503.3(UTP20):c.1129A>T (p.Asn377Tyr)	UTP20 (N377Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3331742	NM_014503.3(UTP20):c.1361C>T (p.Ala454Val)	UTP20 (A454V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511325	NM_014503.3(UTP20):c.1618G>A (p.Val540Ile)	LOC126861611, UTP20 (V540I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461149	NM_014503.3(UTP20):c.1661G>A (p.Gly554Glu)	LOC126861611, UTP20 (G554E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331718	NM_014503.3(UTP20):c.1674A>T (p.Lys558Asn)	LOC126861611, UTP20 (K558N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266481	NM_014503.3(UTP20):c.1763G>T (p.Arg588Leu)	UTP20 (R588L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331724	NM_014503.3(UTP20):c.1769A>G (p.Lys590Arg)	UTP20 (K590R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251813	NM_014503.3(UTP20):c.1934T>G (p.Ile645Ser)	UTP20 (I645S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331734	NM_014503.3(UTP20):c.1982C>G (p.Pro661Arg)	UTP20 (P661R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241994	NM_014503.3(UTP20):c.2093A>G (p.His698Arg)	UTP20 (H698R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187906	NM_014503.3(UTP20):c.2152G>C (p.Glu718Gln)	UTP20 (E718Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331729	NM_014503.3(UTP20):c.2176G>A (p.Gly726Ser)	UTP20 (G726S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331727	NM_014503.3(UTP20):c.2186A>G (p.Tyr729Cys)	UTP20 (Y729C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187907	NM_014503.3(UTP20):c.2242C>T (p.His748Tyr)	UTP20 (H748Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187908	NM_014503.3(UTP20):c.2245G>A (p.Glu749Lys)	UTP20 (E749K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187909	NM_014503.3(UTP20):c.2279A>G (p.Tyr760Cys)	UTP20 (Y760C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187910	NM_014503.3(UTP20):c.2398C>G (p.Leu800Val)	UTP20 (L800V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238735	NM_014503.3(UTP20):c.2566C>T (p.Pro856Ser)	UTP20 (P856S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594800	NM_014503.3(UTP20):c.2603G>A (p.Arg868Gln)	UTP20 (R868Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548673	NM_014503.3(UTP20):c.2618G>A (p.Gly873Glu)	UTP20 (G873E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466096	NM_014503.3(UTP20):c.2724G>C (p.Arg908Ser)	UTP20 (R908S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227186	NM_014503.3(UTP20):c.2761G>A (p.Val921Ile)	UTP20 (V921I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187913	NM_014503.3(UTP20):c.2773T>G (p.Phe925Val)	UTP20 (F925V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187914	NM_014503.3(UTP20):c.2848C>G (p.Gln950Glu)	UTP20 (Q950E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514444	NM_014503.3(UTP20):c.2897C>T (p.Pro966Leu)	UTP20 (P966L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366533	NM_014503.3(UTP20):c.2929A>T (p.Arg977Trp)	UTP20 (R977W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187915	NM_014503.3(UTP20):c.2947A>C (p.Ser983Arg)	UTP20 (S983R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331740	NM_014503.3(UTP20):c.2962A>G (p.Ile988Val)	UTP20 (I988V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249372	NM_014503.3(UTP20):c.2995G>A (p.Val999Ile)	UTP20 (V999I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331723	NM_014503.3(UTP20):c.3007G>A (p.Ala1003Thr)	UTP20 (A1003T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496492	NM_014503.3(UTP20):c.3050A>G (p.Tyr1017Cys)	UTP20 (Y1017C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512738	NM_014503.3(UTP20):c.3158T>C (p.Ile1053Thr)	UTP20 (I1053T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187916	NM_014503.3(UTP20):c.3244G>A (p.Asp1082Asn)	UTP20 (D1082N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218196	NM_014503.3(UTP20):c.3250G>A (p.Asp1084Asn)	UTP20 (D1084N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331737	NM_014503.3(UTP20):c.3271T>G (p.Leu1091Val)	UTP20 (L1091V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187917	NM_014503.3(UTP20):c.3278G>A (p.Arg1093His)	UTP20 (R1093H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544355	NM_014503.3(UTP20):c.3324T>G (p.Ile1108Met)	UTP20 (I1108M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187918	NM_014503.3(UTP20):c.3388G>A (p.Val1130Ile)	UTP20 (V1130I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373465	NM_014503.3(UTP20):c.3458G>A (p.Arg1153His)	UTP20 (R1153H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244944	NM_014503.3(UTP20):c.3473T>C (p.Met1158Thr)	UTP20 (M1158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259971	NM_014503.3(UTP20):c.3670C>G (p.Pro1224Ala)	UTP20 (P1224A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611554	NM_014503.3(UTP20):c.3684A>C (p.Glu1228Asp)	UTP20 (E1228D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323456	NM_014503.3(UTP20):c.3689A>G (p.Asp1230Gly)	UTP20 (D1230G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512722	NM_014503.3(UTP20):c.3715C>A (p.Leu1239Ile)	UTP20 (L1239I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302891	NM_014503.3(UTP20):c.3767T>C (p.Val1256Ala)	UTP20 (V1256A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2373136	NM_014503.3(UTP20):c.3781A>G (p.Asn1261Asp)	UTP20 (N1261D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187921	NM_014503.3(UTP20):c.3796G>A (p.Glu1266Lys)	UTP20 (E1266K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228083	NM_014503.3(UTP20):c.3887G>A (p.Gly1296Glu)	UTP20 (G1296E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719989	NM_014503.3(UTP20):c.3906T>C (p.His1302=)	UTP20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2239689	NM_014503.3(UTP20):c.3924G>T (p.Gln1308His)	UTP20 (Q1308H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239690	NM_014503.3(UTP20):c.3925T>A (p.Tyr1309Asn)	UTP20 (Y1309N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187922	NM_014503.3(UTP20):c.3963A>T (p.Lys1321Asn)	UTP20 (K1321N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187923	NM_014503.3(UTP20):c.3997C>A (p.Leu1333Ile)	UTP20 (L1333I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331732	NM_014503.3(UTP20):c.4040A>C (p.Glu1347Ala)	UTP20 (E1347A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481108	NM_014503.3(UTP20):c.4040A>G (p.Glu1347Gly)	UTP20 (E1347G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536196	NM_014503.3(UTP20):c.4078C>T (p.Leu1360Phe)	UTP20 (L1360F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617457	NM_014503.3(UTP20):c.4112T>C (p.Val1371Ala)	UTP20 (V1371A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384141	NM_014503.3(UTP20):c.4180A>G (p.Ile1394Val)	UTP20 (I1394V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380988	NM_014503.3(UTP20):c.4209C>A (p.Asn1403Lys)	UTP20 (N1403K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350741	NM_014503.3(UTP20):c.4235C>T (p.Thr1412Met)	UTP20 (T1412M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187925	NM_014503.3(UTP20):c.4268G>T (p.Gly1423Val)	UTP20 (G1423V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519860	NM_014503.3(UTP20):c.4339G>A (p.Asp1447Asn)	UTP20 (D1447N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214233	NM_014503.3(UTP20):c.4342G>A (p.Val1448Ile)	UTP20 (V1448I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187927	NM_014503.3(UTP20):c.4362G>C (p.Gln1454His)	UTP20 (Q1454H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187928	NM_014503.3(UTP20):c.4375T>A (p.Tyr1459Asn)	UTP20 (Y1459N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187929	NM_014503.3(UTP20):c.4437C>A (p.Phe1479Leu)	UTP20 (F1479L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225702	NM_014503.3(UTP20):c.4480A>G (p.Ser1494Gly)	UTP20 (S1494G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515187	NM_014503.3(UTP20):c.4523A>C (p.Asn1508Thr)	UTP20 (N1508T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187930	NM_014503.3(UTP20):c.4558C>T (p.Arg1520Cys)	UTP20 (R1520C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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