CTTNBP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	ADAP1, ADCK2 +4736 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129389880, LOC129389881 +2213 more	Copy number gain	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic
Select item 145985	GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1	AASS, ANKRD7 +253 more	Copy number loss	See cases	GPathogenic
Select item 154392	GRCh38/hg38 7q31.1-31.31(chr7:114898882-117790123)x1	ASZ1, CAPZA2 +131 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 3078849	NM_033427.3(CTTNBP2):c.4981C>A (p.Pro1661Thr)	CTTNBP2 (P1661T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205729	NM_033427.3(CTTNBP2):c.4871C>T (p.Ser1624Phe)	CTTNBP2 (S1606F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709431	NM_033427.3(CTTNBP2):c.4855A>C (p.Lys1619Gln)	CTTNBP2 (K1619Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3078848	NM_033427.3(CTTNBP2):c.4846C>G (p.Pro1616Ala)	CTTNBP2 (P917A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376454	NM_033427.3(CTTNBP2):c.4846C>T (p.Pro1616Ser)	CTTNBP2 (P917S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078847	NM_033427.3(CTTNBP2):c.4814G>C (p.Gly1605Ala)	CTTNBP2 (G906A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657962	NM_033427.3(CTTNBP2):c.4757C>T (p.Pro1586Leu)	CTTNBP2 (P1568L +2 more)	Single nucleotide variant (missense variant)	CTTNBP2-related disorder +1 more	GBenign
Select item 3078846	NM_033427.3(CTTNBP2):c.4688G>T (p.Gly1563Val)	CTTNBP2 (G1563V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078845	NM_033427.3(CTTNBP2):c.4687G>A (p.Gly1563Arg)	CTTNBP2 (G1545R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260522	NM_033427.3(CTTNBP2):c.4674G>A (p.Met1558Ile)	CTTNBP2 (M1540I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078844	NM_033427.3(CTTNBP2):c.4616C>G (p.Ser1539Cys)	CTTNBP2 (S1521C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078843	NM_033427.3(CTTNBP2):c.4583C>G (p.Ala1528Gly)	CTTNBP2 (A1510G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401884	NM_033427.3(CTTNBP2):c.4538C>T (p.Thr1513Met)	CTTNBP2 (T1513M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629453	NM_033427.3(CTTNBP2):c.4530_4533dup (p.Leu1512fs)	CTTNBP2 (L1494fs +2 more)	Duplication (frameshift variant)	CTTNBP2-related disorder	GUncertain significance
Select item 2293373	NM_033427.3(CTTNBP2):c.4465A>G (p.Ile1489Val)	CTTNBP2 (I1471V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046391	NM_033427.3(CTTNBP2):c.4448-7_4448-6dup	CTTNBP2	Duplication (intron variant)	CTTNBP2-related disorder	GLikely benign
Select item 2616470	NM_033427.3(CTTNBP2):c.4376A>T (p.Asn1459Ile)	CTTNBP2 (N1441I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078842	NM_033427.3(CTTNBP2):c.4297A>G (p.Ser1433Gly)	CTTNBP2 (S1415G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657963	NM_033427.3(CTTNBP2):c.4278A>G (p.Thr1426=)	CTTNBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3078841	NM_033427.3(CTTNBP2):c.4269C>A (p.Asp1423Glu)	CTTNBP2 (D724E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078840	NM_033427.3(CTTNBP2):c.4237C>T (p.His1413Tyr)	CTTNBP2 (H1395Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057560	NM_033427.3(CTTNBP2):c.4221A>G (p.Leu1407=)	CTTNBP2	Single nucleotide variant (synonymous variant)	CTTNBP2-related disorder	GLikely benign
Select item 3078839	NM_033427.3(CTTNBP2):c.4141G>A (p.Gly1381Ser)	CTTNBP2 (G1381S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249701	NM_033427.3(CTTNBP2):c.4120G>C (p.Ala1374Pro)	CTTNBP2 (A675P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630369	NM_033427.3(CTTNBP2):c.4108A>G (p.Ile1370Val)	CTTNBP2 (I1352V +2 more)	Single nucleotide variant (missense variant)	CTTNBP2-related disorder	GUncertain significance
Select item 2285291	NM_033427.3(CTTNBP2):c.4087G>A (p.Ala1363Thr)	CTTNBP2 (A664T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524893	NM_033427.3(CTTNBP2):c.4081G>A (p.Val1361Ile)	CTTNBP2 (V662I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657964	NM_033427.3(CTTNBP2):c.4056-5G>T	CTTNBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2634578	NM_033427.3(CTTNBP2):c.4007A>G (p.Tyr1336Cys)	CTTNBP2 (Y1318C +2 more)	Single nucleotide variant (missense variant)	CTTNBP2-related disorder	GUncertain significance
Select item 2368982	NM_033427.3(CTTNBP2):c.3983C>G (p.Pro1328Arg)	CTTNBP2 (P1310R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532238	NM_033427.3(CTTNBP2):c.3968C>T (p.Ala1323Val)	CTTNBP2 (A1323V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390429	NM_033427.3(CTTNBP2):c.3925G>A (p.Asp1309Asn)	CTTNBP2 (D1291N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078838	NM_033427.3(CTTNBP2):c.3890C>T (p.Ala1297Val)	CTTNBP2 (A1297V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2258689	NM_033427.3(CTTNBP2):c.3884G>A (p.Gly1295Asp)	CTTNBP2 (G1295D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688899	NM_033427.3(CTTNBP2):c.3844C>A (p.Gln1282Lys)	CTTNBP2 (Q1264K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3078837	NM_033427.3(CTTNBP2):c.3823G>C (p.Glu1275Gln)	CTTNBP2 (E1257Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 219324	NM_033427.3(CTTNBP2):c.3823G>A (p.Glu1275Lys)	CTTNBP2 (E1275K +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2590917	NM_033427.3(CTTNBP2):c.3811C>T (p.Arg1271Trp)	CTTNBP2 (R1271W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078836	NM_033427.3(CTTNBP2):c.3796C>T (p.Arg1266Cys)	CTTNBP2 (R1248C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528043	NM_033427.3(CTTNBP2):c.3737T>A (p.Met1246Lys)	CTTNBP2 (M1228K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060209	NM_033427.3(CTTNBP2):c.3637T>G (p.Leu1213Val)	CTTNBP2 (L1195V +2 more)	Single nucleotide variant (missense variant)	CTTNBP2-related disorder	GBenign
Select item 2280427	NM_033427.3(CTTNBP2):c.3617C>T (p.Ser1206Leu)	CTTNBP2 (S507L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280153	NM_033427.3(CTTNBP2):c.3581T>C (p.Ile1194Thr)	CTTNBP2 (I1176T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038886	NM_033427.3(CTTNBP2):c.3579C>A (p.Ile1193=)	CTTNBP2	Single nucleotide variant (synonymous variant)	CTTNBP2-related disorder	GBenign
Select item 3078835	NM_033427.3(CTTNBP2):c.3476G>C (p.Arg1159Thr)	CTTNBP2 (R460T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078834	NM_033427.3(CTTNBP2):c.3470T>C (p.Ile1157Thr)	CTTNBP2 (I1157T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039294	NM_033427.3(CTTNBP2):c.3442C>A (p.Gln1148Lys)	CTTNBP2 (Q1130K +2 more)	Single nucleotide variant (missense variant)	CTTNBP2-related disorder	GBenign
Select item 2535846	NM_033427.3(CTTNBP2):c.3367G>A (p.Val1123Ile)	CTTNBP2 (V1105I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078832	NM_033427.3(CTTNBP2):c.3298A>G (p.Thr1100Ala)	CTTNBP2 (T401A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048885	NM_033427.3(CTTNBP2):c.3293G>T (p.Ser1098Ile)	CTTNBP2 (S1080I +2 more)	Single nucleotide variant (missense variant)	CTTNBP2-related disorder	GLikely benign
Select item 3078831	NM_033427.3(CTTNBP2):c.3181C>T (p.Pro1061Ser)	CTTNBP2 (P362S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 148216	GRCh38/hg38 7q31.31(chr7:117758754-119514263)x3	ANKRD7, CTTNBP2 +12 more	Copy number gain	See cases	GUncertain significance
Select item 252768	NM_033427.3(CTTNBP2):c.3113A>G (p.Asn1038Ser)	CTTNBP2 (N1038S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078830	NM_033427.3(CTTNBP2):c.2953G>C (p.Gly985Arg)	CTTNBP2 (G286R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078829	NM_033427.3(CTTNBP2):c.2828G>A (p.Arg943Lys)	CTTNBP2 (R244K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596217	NM_033427.3(CTTNBP2):c.2803C>T (p.His935Tyr)	CTTNBP2 (H917Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038528	NM_033427.3(CTTNBP2):c.2778+6T>C	CTTNBP2	Single nucleotide variant (intron variant)	CTTNBP2-related disorder	GBenign
Select item 2635186	NM_033427.3(CTTNBP2):c.2768A>G (p.Lys923Arg)	CTTNBP2 (K224R +2 more)	Single nucleotide variant (missense variant)	CTTNBP2-related disorder	GUncertain significance
Select item 3046569	NM_033427.3(CTTNBP2):c.2760T>C (p.Ala920=)	CTTNBP2	Single nucleotide variant (synonymous variant)	CTTNBP2-related disorder	GLikely benign
Select item 2495576	NM_033427.3(CTTNBP2):c.2750C>T (p.Ala917Val)	CTTNBP2 (A218V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2628892	NM_033427.3(CTTNBP2):c.2732G>A (p.Arg911Lys)	CTTNBP2 (R212K +2 more)	Single nucleotide variant (missense variant)	CTTNBP2-related disorder	GUncertain significance
Select item 3078828	NM_033427.3(CTTNBP2):c.2669A>G (p.Glu890Gly)	CTTNBP2 (E191G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218904	NM_033427.3(CTTNBP2):c.2580G>C (p.Lys860Asn)	CTTNBP2 (K842N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611413	NM_033427.3(CTTNBP2):c.2447T>A (p.Leu816Gln)	CTTNBP2 (L117Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493357	NM_033427.3(CTTNBP2):c.2182A>T (p.Met728Leu)	CTTNBP2 (M29L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262167	NM_033427.3(CTTNBP2):c.2110C>G (p.Pro704Ala)	CTTNBP2 (P704A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045019	NM_033427.3(CTTNBP2):c.2026T>C (p.Cys676Arg)	CTTNBP2 (C658R +1 more)	Single nucleotide variant (missense variant +1 more)	CTTNBP2-related disorder	GUncertain significance
Select item 3039389	NM_033427.3(CTTNBP2):c.1942C>G (p.Gln648Glu)	CTTNBP2 (Q630E +1 more)	Single nucleotide variant (missense variant +1 more)	CTTNBP2-related disorder	GLikely benign
Select item 2231983	NM_033427.3(CTTNBP2):c.1918C>T (p.Pro640Ser)	CTTNBP2 (P640S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522868	NM_033427.3(CTTNBP2):c.1898C>T (p.Thr633Met)	CTTNBP2 (T615M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2636968	NM_033427.3(CTTNBP2):c.1894G>C (p.Ala632Pro)	CTTNBP2 (A614P +1 more)	Single nucleotide variant (missense variant +1 more)	CTTNBP2-related disorder	GUncertain significance
Select item 3078826	NM_033427.3(CTTNBP2):c.1811C>G (p.Pro604Arg)	CTTNBP2 (P586R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035497	NM_033427.3(CTTNBP2):c.1779A>G (p.Gln593=)	CTTNBP2	Single nucleotide variant (synonymous variant +1 more)	CTTNBP2-related disorder	GLikely benign
Select item 2257833	NM_033427.3(CTTNBP2):c.1633A>G (p.Ile545Val)	CTTNBP2 (I545V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2630093	NM_033427.3(CTTNBP2):c.1625C>T (p.Pro542Leu)	CTTNBP2 (P524L +1 more)	Single nucleotide variant (missense variant +1 more)	CTTNBP2-related disorder	GUncertain significance
Select item 2331253	NM_033427.3(CTTNBP2):c.1600G>A (p.Val534Ile)	CTTNBP2 (V534I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264595	NM_033427.3(CTTNBP2):c.1541C>G (p.Pro514Arg)	CTTNBP2 (P496R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296405	NM_033427.3(CTTNBP2):c.1520C>T (p.Pro507Leu)	CTTNBP2 (P489L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078825	NM_033427.3(CTTNBP2):c.1429A>G (p.Thr477Ala)	CTTNBP2 (T459A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243926	NM_033427.3(CTTNBP2):c.1409C>T (p.Pro470Leu)	CTTNBP2 (P470L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078823	NM_033427.3(CTTNBP2):c.1382A>G (p.Gln461Arg)	CTTNBP2 (Q461R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3061729	NM_033427.3(CTTNBP2):c.1307C>T (p.Ser436Phe)	CTTNBP2 (S418F +1 more)	Single nucleotide variant (missense variant +1 more)	CTTNBP2-related disorder	GUncertain significance
Select item 2332387	NM_033427.3(CTTNBP2):c.1274T>C (p.Met425Thr)	CTTNBP2 (M425T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 795984	NM_033427.3(CTTNBP2):c.1173A>C (p.Thr391=)	CTTNBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3078822	NM_033427.3(CTTNBP2):c.1108G>T (p.Val370Leu)	CTTNBP2 (V352L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3078856	NM_033427.3(CTTNBP2):c.976A>G (p.Met326Val)	CTTNBP2 (M308V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2558351	NM_033427.3(CTTNBP2):c.932T>C (p.Leu311Pro)	CTTNBP2 (L293P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3054016	NM_033427.3(CTTNBP2):c.866G>A (p.Arg289His)	CTTNBP2 (R271H +1 more)	Single nucleotide variant (missense variant +1 more)	CTTNBP2-related disorder	GLikely benign
Select item 3078855	NM_033427.3(CTTNBP2):c.848G>T (p.Arg283Leu)	CTTNBP2 (R265L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561879	NM_033427.3(CTTNBP2):c.848G>A (p.Arg283Gln)	CTTNBP2 (R265Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349254	NM_033427.3(CTTNBP2):c.749C>T (p.Ala250Val)	CTTNBP2 (A232V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399324	NM_033427.3(CTTNBP2):c.730A>G (p.Lys244Glu)	CTTNBP2 (K244E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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