11568[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932646, LOC129932647 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932948, LOC129932949 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC129932666, LOC129932667 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC128772241, LOC128772242 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	SCCPDH, SDCCAG8 +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932613, LOC129932614 +949 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC129932859, LOC129932860 +869 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	LOC129932775, LOC129932776 +655 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 1707457	Single allele	LOC129388781, LOC129932784 +123 more	Duplication	not specified	GUncertain significance
Select item 2577840	NC_000001.11:g.(233502994_233518999)_(236093155_236105019)del	ARID4B, B3GALNT2 +162 more	Deletion	Immunodeficiency, common variable, 14	GPathogenic
Select item 155546	GRCh38/hg38 1q42.2-42.3(chr1:234147274-235184361)x1	ARID4B, COA6 +98 more	Copy number loss	See cases	GUncertain significance
Select item 3173855	NM_005646.4(TARBP1):c.4777C>T (p.Arg1593Cys)	TARBP1 (R1593C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173854	NM_005646.4(TARBP1):c.4766A>G (p.Gln1589Arg)	TARBP1 (Q1589R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378063	NM_005646.4(TARBP1):c.4623T>G (p.Ile1541Met)	TARBP1 (I1541M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297141	NM_005646.4(TARBP1):c.4610G>A (p.Gly1537Asp)	TARBP1 (G1537D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259108	NM_005646.4(TARBP1):c.4500C>G (p.Ile1500Met)	TARBP1 (I1500M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369235	NM_005646.4(TARBP1):c.4421C>T (p.Pro1474Leu)	TARBP1 (P1474L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366354	NM_005646.4(TARBP1):c.4358G>A (p.Arg1453His)	TARBP1 (R1453H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372376	NM_005646.4(TARBP1):c.4357C>G (p.Arg1453Gly)	TARBP1 (R1453G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173852	NM_005646.4(TARBP1):c.4274C>T (p.Ala1425Val)	TARBP1 (A1425V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318227	NM_005646.4(TARBP1):c.4274C>G (p.Ala1425Gly)	TARBP1 (A1425G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269061	NM_005646.4(TARBP1):c.4258G>A (p.Glu1420Lys)	TARBP1 (E1420K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557447	NM_005646.4(TARBP1):c.4229C>G (p.Ser1410Cys)	TARBP1 (S1410C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279082	NM_005646.4(TARBP1):c.4207A>G (p.Lys1403Glu)	TARBP1 (K1403E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2496531	NM_005646.4(TARBP1):c.4094G>A (p.Arg1365His)	TARBP1 (R1365H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173851	NM_005646.4(TARBP1):c.4073C>G (p.Thr1358Ser)	TARBP1 (T1358S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173850	NM_005646.4(TARBP1):c.4051C>T (p.Leu1351Phe)	TARBP1 (L1351F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353580	NM_005646.4(TARBP1):c.4047C>G (p.His1349Gln)	TARBP1 (H1349Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173849	NM_005646.4(TARBP1):c.4013G>A (p.Arg1338His)	TARBP1 (R1338H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226155	NM_005646.4(TARBP1):c.3985G>A (p.Ala1329Thr)	TARBP1 (A1329T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551809	NM_005646.4(TARBP1):c.3926T>G (p.Phe1309Cys)	TARBP1 (F1309C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262148	NM_005646.4(TARBP1):c.3898G>A (p.Val1300Met)	TARBP1 (V1300M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2608999	NM_005646.4(TARBP1):c.3866A>G (p.Tyr1289Cys)	TARBP1 (Y1289C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279645	NM_005646.4(TARBP1):c.3860G>C (p.Arg1287Pro)	TARBP1 (R1287P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173848	NM_005646.4(TARBP1):c.3832T>A (p.Trp1278Arg)	TARBP1 (W1278R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396483	NM_005646.4(TARBP1):c.3737C>T (p.Thr1246Met)	TARBP1 (T1246M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173847	NM_005646.4(TARBP1):c.3655C>T (p.Leu1219Phe)	TARBP1 (L1219F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780810	NM_005646.4(TARBP1):c.3606C>T (p.Asn1202=)	TARBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2484191	NM_005646.4(TARBP1):c.3582G>T (p.Arg1194Ser)	TARBP1 (R1194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558033	NM_005646.4(TARBP1):c.3569G>A (p.Gly1190Glu)	TARBP1 (G1190E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396666	NM_005646.4(TARBP1):c.3539T>C (p.Phe1180Ser)	TARBP1 (F1180S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173846	NM_005646.4(TARBP1):c.3524C>T (p.Thr1175Ile)	TARBP1 (T1175I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294432	NM_005646.4(TARBP1):c.3424G>T (p.Ala1142Ser)	TARBP1 (A1142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724323	NM_005646.4(TARBP1):c.3365A>G (p.Lys1122Arg)	TARBP1 (K1122R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2337170	NM_005646.4(TARBP1):c.3264T>G (p.Asp1088Glu)	TARBP1 (D1088E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596277	NM_005646.4(TARBP1):c.3239G>A (p.Arg1080Lys)	TARBP1 (R1080K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376267	NM_005646.4(TARBP1):c.3170G>A (p.Gly1057Glu)	TARBP1 (G1057E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596357	NM_005646.4(TARBP1):c.3022G>A (p.Ala1008Thr)	TARBP1 (A1008T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590840	NM_005646.4(TARBP1):c.3016A>G (p.Ile1006Val)	TARBP1 (I1006V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382020	NM_005646.4(TARBP1):c.2978C>T (p.Ala993Val)	TARBP1 (A993V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173845	NM_005646.4(TARBP1):c.2962T>C (p.Trp988Arg)	TARBP1 (W988R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173844	NM_005646.4(TARBP1):c.2848T>A (p.Cys950Ser)	TARBP1 (C950S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230511	NM_005646.4(TARBP1):c.2827C>G (p.Gln943Glu)	TARBP1 (Q943E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173843	NM_005646.4(TARBP1):c.2825A>G (p.Asp942Gly)	TARBP1 (D942G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236442	NM_005646.4(TARBP1):c.2815C>G (p.Leu939Val)	TARBP1 (L939V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520876	NM_005646.4(TARBP1):c.2764G>A (p.Val922Ile)	TARBP1 (V922I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640091	NM_005646.4(TARBP1):c.2751G>A (p.Pro917=)	TARBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3173841	NM_005646.4(TARBP1):c.2729C>T (p.Thr910Ile)	TARBP1 (T910I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214048	NM_005646.4(TARBP1):c.2594C>T (p.Pro865Leu)	TARBP1 (P865L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613929	NM_005646.4(TARBP1):c.2567C>T (p.Ala856Val)	TARBP1 (A856V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173840	NM_005646.4(TARBP1):c.2497C>A (p.Leu833Ile)	TARBP1 (L833I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372358	NM_005646.4(TARBP1):c.2434A>G (p.Met812Val)	TARBP1 (M812V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373753	NM_005646.4(TARBP1):c.2426T>C (p.Val809Ala)	TARBP1 (V809A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485964	NM_005646.4(TARBP1):c.2399C>T (p.Pro800Leu)	TARBP1 (P800L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246672	NM_005646.4(TARBP1):c.2366A>G (p.Gln789Arg)	TARBP1 (Q789R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3173839	NM_005646.4(TARBP1):c.2357C>T (p.Ala786Val)	TARBP1 (A786V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339579	NM_005646.4(TARBP1):c.2294A>G (p.His765Arg)	TARBP1 (H765R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173838	NM_005646.4(TARBP1):c.2210T>A (p.Leu737His)	TARBP1 (L737H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217306	NM_005646.4(TARBP1):c.2176A>G (p.Thr726Ala)	TARBP1 (T726A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173837	NM_005646.4(TARBP1):c.2161T>A (p.Phe721Ile)	TARBP1 (F721I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520352	NM_005646.4(TARBP1):c.2138A>C (p.Glu713Ala)	TARBP1 (E713A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460561	NM_005646.4(TARBP1):c.2074C>T (p.Leu692Phe)	TARBP1 (L692F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208984	NM_005646.4(TARBP1):c.1843A>G (p.Lys615Glu)	TARBP1 (K615E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464663	NM_005646.4(TARBP1):c.1730A>G (p.Asp577Gly)	TARBP1 (D577G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288096	NM_005646.4(TARBP1):c.1700G>A (p.Arg567Gln)	TARBP1 (R567Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173834	NM_005646.4(TARBP1):c.1676T>C (p.Leu559Pro)	TARBP1 (L559P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283828	NM_005646.4(TARBP1):c.1600C>T (p.Leu534Phe)	TARBP1 (L534F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769556	NM_005646.4(TARBP1):c.1538A>G (p.Asp513Gly)	TARBP1 (D513G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2528428	NM_005646.4(TARBP1):c.1525C>G (p.Leu509Val)	TARBP1 (L509V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173832	NM_005646.4(TARBP1):c.1510G>A (p.Gly504Ser)	TARBP1 (G504S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267703	NM_005646.4(TARBP1):c.1448G>T (p.Cys483Phe)	TARBP1 (C483F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325940	NM_005646.4(TARBP1):c.1431G>A (p.Met477Ile)	TARBP1 (M477I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379123	NM_005646.4(TARBP1):c.1424G>A (p.Arg475Gln)	TARBP1 (R475Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3173831	NM_005646.4(TARBP1):c.1423C>T (p.Arg475Trp)	TARBP1 (R475W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476737	NM_005646.4(TARBP1):c.1370A>T (p.Tyr457Phe)	TARBP1 (Y457F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529592	NM_005646.4(TARBP1):c.1289C>T (p.Ser430Phe)	TARBP1 (S430F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387760	NM_005646.4(TARBP1):c.1222C>A (p.Leu408Ile)	TARBP1 (L408I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315734	NM_005646.4(TARBP1):c.1202A>G (p.Glu401Gly)	TARBP1 (E401G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173828	NM_005646.4(TARBP1):c.1193A>G (p.His398Arg)	TARBP1 (H398R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173827	NM_005646.4(TARBP1):c.1184G>A (p.Gly395Asp)	TARBP1 (G395D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304983	NM_005646.4(TARBP1):c.1175C>A (p.Ser392Tyr)	TARBP1 (S392Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517002	NM_005646.4(TARBP1):c.1103G>T (p.Cys368Phe)	TARBP1 (C368F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336852	NM_005646.4(TARBP1):c.1081G>A (p.Ala361Thr)	TARBP1 (A361T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240341	NM_005646.4(TARBP1):c.1064A>G (p.Asn355Ser)	TARBP1 (N355S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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