NACAD[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	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	LOC129998373, LOC129998374 +231 more	Copy number loss	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 58547	GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1	ADCY1, CAMK2B +95 more	Copy number loss	See cases	GPathogenic
Select item 145645	GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1	ABCA13, ADCY1 +200 more	Copy number loss	See cases	GPathogenic
Select item 584080	NC_000007.14:g.(?_45027705)_(45086112_?)del	CCM2, LOC129998398 +2 more	Deletion	Cerebral cavernous malformation 2	GPathogenic
Select item 3063593	NC_000007.14:g.45043702_46521017delins[AGAAGGAAATTT;45310743_46521014;45043709_45310738inv]	ADCY1, CCDC201 +27 more	Indel	Cerebral cavernous malformation 2	GPathogenic
Select item 2336785	NM_001146334.2(NACAD):c.4685T>C (p.Met1562Thr)	NACAD (M1562T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172905	NM_001146334.2(NACAD):c.4666G>A (p.Ala1556Thr)	NACAD (A1556T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172902	NM_001146334.2(NACAD):c.4616G>A (p.Arg1539Lys)	NACAD (R1539K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206434	NM_001146334.2(NACAD):c.4519T>A (p.Cys1507Ser)	NACAD (C1507S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408364	NM_001146334.2(NACAD):c.4501C>T (p.Pro1501Ser)	NACAD (P1501S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380182	NM_001146334.2(NACAD):c.4279C>T (p.Arg1427Trp)	NACAD (R1427W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265435	NM_001146334.2(NACAD):c.4223C>A (p.Ala1408Asp)	NACAD (A1408D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172887	NM_001146334.2(NACAD):c.4220A>G (p.Lys1407Arg)	NACAD (K1407R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285749	NM_001146334.2(NACAD):c.4198G>A (p.Gly1400Ser)	NACAD (G1400S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525373	NM_001146334.2(NACAD):c.4171C>G (p.Gln1391Glu)	NACAD (Q1391E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595612	NM_001146334.2(NACAD):c.4168G>A (p.Val1390Met)	NACAD (V1390M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292236	NM_001146334.2(NACAD):c.4139A>G (p.Asp1380Gly)	NACAD (D1380G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519337	NM_001146334.2(NACAD):c.4082G>A (p.Arg1361Gln)	NACAD (R1361Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508374	NM_001146334.2(NACAD):c.4082G>C (p.Arg1361Pro)	NACAD (R1361P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514043	NM_001146334.2(NACAD):c.4055A>T (p.Glu1352Val)	NACAD (E1352V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298350	NM_001146334.2(NACAD):c.3980A>T (p.Gln1327Leu)	NACAD (Q1327L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212178	NM_001146334.2(NACAD):c.3971C>T (p.Pro1324Leu)	NACAD (P1324L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224253	NM_001146334.2(NACAD):c.3937A>C (p.Met1313Leu)	NACAD (M1313L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481436	NM_001146334.2(NACAD):c.3919A>G (p.Ser1307Gly)	NACAD (S1307G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491683	NM_001146334.2(NACAD):c.3884C>T (p.Pro1295Leu)	NACAD (P1295L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172845	NM_001146334.2(NACAD):c.3850G>C (p.Val1284Leu)	NACAD (V1284L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172842	NM_001146334.2(NACAD):c.3808C>T (p.Leu1270Phe)	NACAD (L1270F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603915	NM_001146334.2(NACAD):c.3772T>A (p.Ser1258Thr)	NACAD (S1258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518064	NM_001146334.2(NACAD):c.3661G>A (p.Val1221Met)	NACAD (V1221M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226995	NM_001146334.2(NACAD):c.3656C>T (p.Thr1219Met)	NACAD (T1219M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273967	NM_001146334.2(NACAD):c.3635T>C (p.Leu1212Pro)	NACAD (L1212P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2609875	NM_001146334.2(NACAD):c.3599T>A (p.Val1200Asp)	NACAD (V1200D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172829	NM_001146334.2(NACAD):c.3596G>A (p.Ser1199Asn)	NACAD (S1199N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611285	NM_001146334.2(NACAD):c.3570T>G (p.Ser1190Arg)	NACAD (S1190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298353	NM_001146334.2(NACAD):c.3545C>A (p.Pro1182Gln)	NACAD (P1182Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406175	NM_001146334.2(NACAD):c.3520A>G (p.Thr1174Ala)	NACAD (T1174A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172810	NM_001146334.2(NACAD):c.3440C>T (p.Ala1147Val)	NACAD (A1147V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215486	NM_001146334.2(NACAD):c.3409C>G (p.Pro1137Ala)	NACAD (P1137A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657440	NM_001146334.2(NACAD):c.3405G>A (p.Pro1135=)	NACAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657441	NM_001146334.2(NACAD):c.3336T>C (p.Pro1112=)	NACAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2313286	NM_001146334.2(NACAD):c.3334C>T (p.Pro1112Ser)	NACAD (P1112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508013	NM_001146334.2(NACAD):c.3328G>T (p.Ala1110Ser)	NACAD (A1110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347812	NM_001146334.2(NACAD):c.3307G>C (p.Val1103Leu)	NACAD (V1103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355857	NM_001146334.2(NACAD):c.3151G>A (p.Glu1051Lys)	NACAD (E1051K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172795	NM_001146334.2(NACAD):c.3130G>A (p.Ala1044Thr)	NACAD (A1044T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489016	NM_001146334.2(NACAD):c.3128A>C (p.Glu1043Ala)	NACAD (E1043A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298358	NM_001146334.2(NACAD):c.3073A>G (p.Met1025Val)	NACAD (M1025V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172793	NM_001146334.2(NACAD):c.3069G>T (p.Leu1023Phe)	NACAD (L1023F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298349	NM_001146334.2(NACAD):c.3043G>T (p.Ala1015Ser)	NACAD (A1015S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591731	NM_001146334.2(NACAD):c.3043G>A (p.Ala1015Thr)	NACAD (A1015T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457784	NM_001146334.2(NACAD):c.3019G>A (p.Ala1007Thr)	NACAD (A1007T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293472	NM_001146334.2(NACAD):c.3011A>G (p.Gln1004Arg)	NACAD (Q1004R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172782	NM_001146334.2(NACAD):c.2879C>T (p.Pro960Leu)	NACAD (P960L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329047	NM_001146334.2(NACAD):c.2770G>T (p.Ala924Ser)	NACAD (A924S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618177	NM_001146334.2(NACAD):c.2735A>T (p.Glu912Val)	NACAD (E912V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365551	NM_001146334.2(NACAD):c.2719T>C (p.Ser907Pro)	NACAD (S907P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2358603	NM_001146334.2(NACAD):c.2717T>A (p.Val906Glu)	NACAD (V906E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522503	NM_001146334.2(NACAD):c.2699T>G (p.Val900Gly)	NACAD (V900G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237281	NM_001146334.2(NACAD):c.2693A>T (p.Lys898Met)	NACAD (K898M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592793	NM_001146334.2(NACAD):c.2692A>G (p.Lys898Glu)	NACAD (K898E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227992	NM_001146334.2(NACAD):c.2692A>C (p.Lys898Gln)	NACAD (K898Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657442	NM_001146334.2(NACAD):c.2682G>A (p.Ser894=)	NACAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657443	NM_001146334.2(NACAD):c.2652G>A (p.Pro884=)	NACAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657444	NM_001146334.2(NACAD):c.2562G>A (p.Ser854=)	NACAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2673104	NM_001146334.2(NACAD):c.2522C>T (p.Ala841Val)	NACAD (A841V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2261056	NM_001146334.2(NACAD):c.2465C>T (p.Ala822Val)	NACAD (A822V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172756	NM_001146334.2(NACAD):c.2321C>T (p.Ser774Leu)	NACAD (S774L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657445	NM_001146334.2(NACAD):c.2280C>T (p.Ser760=)	NACAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2353248	NM_001146334.2(NACAD):c.2249C>T (p.Ala750Val)	NACAD (A750V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172752	NM_001146334.2(NACAD):c.2234T>C (p.Leu745Pro)	NACAD (L745P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657446	NM_001146334.2(NACAD):c.2202G>A (p.Ser734=)	NACAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657447	NM_001146334.2(NACAD):c.2112G>A (p.Thr704=)	NACAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2472731	NM_001146334.2(NACAD):c.2048C>G (p.Thr683Arg)	NACAD (T683R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172745	NM_001146334.2(NACAD):c.2018G>A (p.Gly673Asp)	NACAD (G673D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172740	NM_001146334.2(NACAD):c.2008G>A (p.Ala670Thr)	NACAD (A670T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172734	NM_001146334.2(NACAD):c.1994T>C (p.Leu665Pro)	NACAD (L665P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657448	NM_001146334.2(NACAD):c.1974G>A (p.Lys658=)	NACAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3298360	NM_001146334.2(NACAD):c.1931C>T (p.Pro644Leu)	NACAD (P644L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657449	NM_001146334.2(NACAD):c.1878G>C (p.Val626=)	NACAD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3172729	NM_001146334.2(NACAD):c.1874T>C (p.Ile625Thr)	NACAD (I625T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270090	NM_001146334.2(NACAD):c.1801G>A (p.Ala601Thr)	NACAD (A601T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265353	NM_001146334.2(NACAD):c.1801G>C (p.Ala601Pro)	NACAD (A601P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493412	NM_001146334.2(NACAD):c.1717C>T (p.Leu573Phe)	NACAD (L573F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223468	NM_001146334.2(NACAD):c.1646C>T (p.Pro549Leu)	NACAD (P549L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2603238	NM_001146334.2(NACAD):c.1640C>G (p.Pro547Arg)	NACAD (P547R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298351	NM_001146334.2(NACAD):c.1588G>A (p.Glu530Lys)	NACAD (E530K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548124	NM_001146334.2(NACAD):c.1579C>G (p.Pro527Ala)	NACAD (P527A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262140	NM_001146334.2(NACAD):c.1543G>T (p.Ala515Ser)	NACAD (A515S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395120	NM_001146334.2(NACAD):c.1525G>A (p.Glu509Lys)	NACAD (E509K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405890	NM_001146334.2(NACAD):c.1510C>T (p.Pro504Ser)	NACAD (P504S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172712	NM_001146334.2(NACAD):c.1408G>A (p.Glu470Lys)	NACAD (E470K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214858	NM_001146334.2(NACAD):c.1402G>T (p.Val468Leu)	NACAD (V468L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250407	NM_001146334.2(NACAD):c.1387G>A (p.Glu463Lys)	NACAD (E463K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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