IBTK[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	EEF1A1-AS1, KCNQ5-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	ME1, MEI4 +299 more	Copy number loss	See cases	GPathogenic
Select item 2594577	NM_015525.4(IBTK):c.3992A>C (p.Glu1331Ala)	IBTK (E1331A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473884	NM_015525.4(IBTK):c.3932T>C (p.Ile1311Thr)	IBTK (I1296T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240767	NM_015525.4(IBTK):c.3919G>C (p.Ala1307Pro)	IBTK (A1292P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2587956	NM_015525.4(IBTK):c.3830C>T (p.Ser1277Phe)	IBTK (S1277F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283240	NM_015525.4(IBTK):c.3766A>G (p.Ile1256Val)	IBTK (I1241V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540410	NM_015525.4(IBTK):c.3692G>C (p.Gly1231Ala)	IBTK (G1231A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483987	NM_015525.4(IBTK):c.3662G>C (p.Gly1221Ala)	IBTK (G1206A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410574	NM_015525.4(IBTK):c.3635A>G (p.Lys1212Arg)	IBTK (K1212R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 161695	NM_015525.4(IBTK):c.3506A>T (p.Asn1169Ile)	IBTK (N1169I +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2351819	NM_015525.4(IBTK):c.3503A>G (p.Asn1168Ser)	IBTK (N1153S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296091	NM_015525.4(IBTK):c.3446A>G (p.His1149Arg)	IBTK (H1134R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790580	NM_015525.4(IBTK):c.3421T>A (p.Ser1141Thr)	IBTK (S1141T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2483034	NM_015525.4(IBTK):c.3403T>G (p.Cys1135Gly)	IBTK (C1135G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773199	NM_015525.4(IBTK):c.3339-10T>C	IBTK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2234541	NM_015525.4(IBTK):c.3329G>A (p.Gly1110Asp)	IBTK (G1110D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489323	NM_015525.4(IBTK):c.3278C>G (p.Pro1093Arg)	IBTK (P1078R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559242	NM_015525.4(IBTK):c.3227A>G (p.Asp1076Gly)	IBTK (D1061G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283685	NM_015525.4(IBTK):c.2966G>A (p.Arg989His)	IBTK (R989H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268330	NM_015525.4(IBTK):c.2908C>A (p.His970Asn)	IBTK (H970N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251059	NM_015525.4(IBTK):c.2875T>C (p.Phe959Leu)	IBTK (F959L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456371	NM_015525.4(IBTK):c.2749G>A (p.Asp917Asn)	IBTK (D917N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324141	NM_015525.4(IBTK):c.2680T>G (p.Ser894Ala)	IBTK (S894A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410549	NM_015525.4(IBTK):c.2573G>A (p.Arg858Gln)	IBTK (R858Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238219	NM_015525.4(IBTK):c.2573G>T (p.Arg858Leu)	IBTK (R858L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509449	NM_015525.4(IBTK):c.2545G>A (p.Val849Met)	IBTK (V849M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265322	NM_015525.4(IBTK):c.2530A>T (p.Ile844Phe)	IBTK (I844F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471741	NM_015525.4(IBTK):c.2519A>T (p.Asn840Ile)	IBTK (N840I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259004	NM_015525.4(IBTK):c.2456T>C (p.Ile819Thr)	IBTK (I819T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247114	NM_015525.4(IBTK):c.2443A>G (p.Ile815Val)	IBTK (I815V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601943	NM_015525.4(IBTK):c.2196G>C (p.Leu732Phe)	IBTK (L732F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231692	NM_015525.4(IBTK):c.1957T>G (p.Leu653Val)	IBTK (L653V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251445	NM_015525.4(IBTK):c.1924T>A (p.Phe642Ile)	IBTK (F642I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281123	NM_015525.4(IBTK):c.1810G>A (p.Asp604Asn)	IBTK (D604N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588099	NM_015525.4(IBTK):c.1795A>G (p.Thr599Ala)	IBTK (T599A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296699	NM_015525.4(IBTK):c.1606T>A (p.Tyr536Asn)	IBTK (Y536N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277956	NM_015525.4(IBTK):c.1462G>A (p.Val488Met)	IBTK (V488M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323739	NM_015525.4(IBTK):c.1222A>G (p.Ile408Val)	IBTK (I408V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232804	NM_015525.4(IBTK):c.1189C>T (p.His397Tyr)	IBTK (H397Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556714	NM_015525.4(IBTK):c.1181A>G (p.Asp394Gly)	IBTK (D394G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619570	NM_015525.4(IBTK):c.1010A>G (p.His337Arg)	IBTK (H337R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307565	NM_015525.4(IBTK):c.916A>G (p.Thr306Ala)	IBTK (T306A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306117	NM_015525.4(IBTK):c.863G>A (p.Gly288Asp)	IBTK (G288D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656725	NM_015525.4(IBTK):c.660T>A (p.Pro220=)	IBTK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2461506	NM_015525.4(IBTK):c.467G>A (p.Gly156Asp)	IBTK (G156D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282366	NM_015525.4(IBTK):c.302G>A (p.Cys101Tyr)	IBTK (C101Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481379	NM_015525.4(IBTK):c.83G>A (p.Gly28Glu)	IBTK (G28E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498333	GRCh37/hg19 6q14.1-14.3(chr6:82840207-86522229)x1	CEP162, CYB5R4 +18 more	Copy number loss	See cases	GPathogenic
Select item 1808487	GRCh37/hg19 6q14.1-14.2(chr6:81087736-84200632)x3	DOP1A, IBTK +6 more	Copy number gain	not provided	GUncertain significance
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	KHDC1L, KHDC3L +88 more	Copy number gain	not specified	GPathogenic
Select item 1341189	GRCh37/hg19 6q13-14.1(chr6:72799054-83275894)x1	KHDC3L, LCA5 +31 more	Copy number loss	not provided	GPathogenic
Select item 814839	GRCh37/hg19 6q14.1-14.2(chr6:82620262-84201117)x1	UBE3D, DOP1A +5 more	Copy number loss	not provided	GUncertain significance
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 563192	GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1	DDX43, TMEM30A +40 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 59