8011[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 497

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 1286631	NM_003632.3(CNTNAP1):c.-217G>C	CNTNAP1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 800937	NM_003632.3(CNTNAP1):c.1_1629-1del	CNTNAP1, LOC125177481 +1 more	Deletion (splice acceptor variant +2 more)	CNTNAP1-related disorder	GLikely pathogenic
Select item 2525503	NM_003632.3(CNTNAP1):c.10C>T (p.Leu4Phe)	CNTNAP1 (L4F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1919335	NM_003632.3(CNTNAP1):c.17T>C (p.Leu6Pro)	CNTNAP1 (L6P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919210	NM_003632.3(CNTNAP1):c.27C>T (p.Ile9=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829638	NM_003632.3(CNTNAP1):c.33C>T (p.Leu11=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964702	NM_003632.3(CNTNAP1):c.50C>T (p.Ala17Val)	CNTNAP1 (A17V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440174	NM_003632.3(CNTNAP1):c.67T>C (p.Tyr23His)	CNTNAP1 (Y23H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1183884	NM_003632.3(CNTNAP1):c.68-225A>C	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283421	NM_003632.3(CNTNAP1):c.68-190T>C	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167004	NM_003632.3(CNTNAP1):c.68-20_68-19insT	CNTNAP1, LOC125177481	Insertion (intron variant)	not provided	GBenign
Select item 1623827	NM_003632.3(CNTNAP1):c.68-19G>A	CNTNAP1, LOC125177481	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2230851	NM_003632.3(CNTNAP1):c.68-4C>T	CNTNAP1, LOC125177481	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 692274	NM_003632.3(CNTNAP1):c.69C>G (p.Tyr23Ter)	CNTNAP1, LOC125177481 (Y23*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita +1 more	GPathogenic
Select item 1428021	NM_003632.3(CNTNAP1):c.70G>C (p.Gly24Arg)	CNTNAP1, LOC125177481 (G24R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2119615	NM_003632.3(CNTNAP1):c.71G>A (p.Gly24Asp)	CNTNAP1, LOC125177481 (G24D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2048757	NM_003632.3(CNTNAP1):c.72C>T (p.Gly24=)	CNTNAP1, LOC125177481	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1703491	NM_003632.3(CNTNAP1):c.74G>T (p.Cys25Phe)	CNTNAP1, LOC125177481 (C25F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 798838	NM_003632.3(CNTNAP1):c.87G>A (p.Leu29=)	CNTNAP1, LOC125177481	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2557926	NM_003632.3(CNTNAP1):c.136C>A (p.Leu46Ile)	CNTNAP1, LOC125177481 (L46I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 803394	NM_003632.3(CNTNAP1):c.151A>C (p.Arg51=)	CNTNAP1, LOC125177481	Single nucleotide variant (synonymous variant)	Lethal congenital contracture syndrome 7 +2 more	GBenign
Select item 1531882	NM_003632.3(CNTNAP1):c.165G>C (p.Leu55=)	CNTNAP1, LOC125177481	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1949509	NM_003632.3(CNTNAP1):c.169+11C>T	CNTNAP1, LOC125177481	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960694	NM_003632.3(CNTNAP1):c.169+12G>T	CNTNAP1, LOC125177481	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1703341	NM_003632.3(CNTNAP1):c.170-6C>G	CNTNAP1, LOC125177481	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2608771	NM_003632.3(CNTNAP1):c.172A>G (p.Ile58Val)	CNTNAP1, LOC125177481 (I58V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2105500	NM_003632.3(CNTNAP1):c.177C>A (p.Ser59Arg)	CNTNAP1, LOC125177481 (S59R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1389757	NM_003632.3(CNTNAP1):c.203C>T (p.Pro68Leu)	CNTNAP1 (P68L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700701	NM_003632.3(CNTNAP1):c.209C>T (p.Pro70Leu)	CNTNAP1 (P70L)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1653795	NM_003632.3(CNTNAP1):c.216C>A (p.Leu72=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735447	NM_003632.3(CNTNAP1):c.240C>T (p.His80=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1946721	NM_003632.3(CNTNAP1):c.241C>A (p.Arg81=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047493	NM_003632.3(CNTNAP1):c.246C>T (p.Ile82=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3047213	NM_003632.3(CNTNAP1):c.309C>G (p.Leu103=)	CNTNAP1	Single nucleotide variant (synonymous variant)	CNTNAP1-related disorder	GLikely benign
Select item 2681204	NM_003632.3(CNTNAP1):c.312C>T (p.Tyr104=)	CNTNAP1	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3146820	NM_003632.3(CNTNAP1):c.313G>T (p.Gly105Cys)	CNTNAP1 (G105C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781302	NM_003632.3(CNTNAP1):c.327C>T (p.Asp109=)	CNTNAP1	Single nucleotide variant (synonymous variant)	Neuropathy, congenital hypomyelinating, 3 +2 more	GBenign/Likely benign
Select item 1163599	NM_003632.3(CNTNAP1):c.343T>C (p.Tyr115His)	CNTNAP1 (Y115H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1480603	NM_003632.3(CNTNAP1):c.350G>A (p.Arg117Gln)	CNTNAP1 (R117Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1585465	NM_003632.3(CNTNAP1):c.363+11C>A	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167347	NM_003632.3(CNTNAP1):c.363+15A>C	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182352	NM_003632.3(CNTNAP1):c.363+127=	CNTNAP1	Variation (intron variant)	not provided	GBenign
Select item 1210671	NM_003632.3(CNTNAP1):c.363+142C>T	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273552	NM_003632.3(CNTNAP1):c.363+205A>G	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223773	NM_003632.3(CNTNAP1):c.364-127G>A	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217319	NM_003632.3(CNTNAP1):c.364-34A>G	CNTNAP1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1674695	NM_003632.3(CNTNAP1):c.364-19C>T	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988915	NM_003632.3(CNTNAP1):c.364-17C>T	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2292703	NM_003632.3(CNTNAP1):c.389C>T (p.Ser130Leu)	CNTNAP1 (S130L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2688806	NM_003632.3(CNTNAP1):c.391G>A (p.Ala131Thr)	CNTNAP1 (A131T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1530632	NM_003632.3(CNTNAP1):c.405T>C (p.His135=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1440501	NM_003632.3(CNTNAP1):c.408C>G (p.Asp136Glu)	CNTNAP1 (D136E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3146825	NM_003632.3(CNTNAP1):c.416T>G (p.Phe139Cys)	CNTNAP1 (F139C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409409	NM_003632.3(CNTNAP1):c.418C>T (p.His140Tyr)	CNTNAP1 (H140Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2901015	NM_003632.3(CNTNAP1):c.426T>C (p.Thr142=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3146826	NM_003632.3(CNTNAP1):c.427G>A (p.Ala143Thr)	CNTNAP1 (A143T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1573477	NM_003632.3(CNTNAP1):c.429G>A (p.Ala143=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1464794	NM_003632.3(CNTNAP1):c.439C>A (p.Arg147Ser)	CNTNAP1 (R147S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2415215	NM_003632.3(CNTNAP1):c.450C>T (p.Pro150=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2092864	NM_003632.3(CNTNAP1):c.454G>A (p.Ala152Thr)	CNTNAP1 (A152T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998901	NM_003632.3(CNTNAP1):c.477C>G (p.Ile159Met)	CNTNAP1 (I159M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906110	NM_003632.3(CNTNAP1):c.495C>T (p.Leu165=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2104842	NM_003632.3(CNTNAP1):c.497A>G (p.Tyr166Cys)	CNTNAP1 (Y166C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2765880	NM_003632.3(CNTNAP1):c.511+9G>T	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1986030	NM_003632.3(CNTNAP1):c.511+9_511+10delinsAA	CNTNAP1	Indel (intron variant)	not provided	GUncertain significance
Select item 2616252	NM_003632.3(CNTNAP1):c.520A>C (p.Ile174Leu)	CNTNAP1 (I174L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1986236	NM_003632.3(CNTNAP1):c.554A>G (p.Tyr185Cys)	CNTNAP1 (Y185C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 788749	NM_003632.3(CNTNAP1):c.564G>A (p.Pro188=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2064292	NM_003632.3(CNTNAP1):c.570G>A (p.Gly190=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1969513	NM_003632.3(CNTNAP1):c.571G>A (p.Val191Ile)	CNTNAP1 (V191I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1432147	NM_003632.3(CNTNAP1):c.597C>A (p.Phe199Leu)	CNTNAP1 (F199L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2018137	NM_003632.3(CNTNAP1):c.600C>T (p.Ala200=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 590912	NM_003632.3(CNTNAP1):c.635T>C (p.Leu212Pro)	CNTNAP1 (L212P)	Single nucleotide variant (missense variant)	Neuropathy, congenital hypomyelinating, 3	GPathogenic
Select item 2155113	NM_003632.3(CNTNAP1):c.666C>T (p.Tyr222=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2017511	NM_003632.3(CNTNAP1):c.669G>T (p.Val223=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1549256	NM_003632.3(CNTNAP1):c.669G>A (p.Val223=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748898	NM_003632.3(CNTNAP1):c.675C>T (p.Leu225=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944178	NM_003632.3(CNTNAP1):c.705C>T (p.His235=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909414	NM_003632.3(CNTNAP1):c.715+8C>T	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1966028	NM_003632.3(CNTNAP1):c.715+9G>A	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010302	NM_003632.3(CNTNAP1):c.715+11C>T	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778066	NM_003632.3(CNTNAP1):c.715+11C>G	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1544012	NM_003632.3(CNTNAP1):c.715+12G>T	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1650642	NM_003632.3(CNTNAP1):c.715+16A>G	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2092947	NM_003632.3(CNTNAP1):c.715+20G>A	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3047865	NM_003632.3(CNTNAP1):c.716-31_716-9dup	CNTNAP1	Duplication (intron variant)	CNTNAP1-related disorder	GLikely benign
Select item 1918479	NM_003632.3(CNTNAP1):c.716-16C>T	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1953958	NM_003632.3(CNTNAP1):c.716-11C>T	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908967	NM_003632.3(CNTNAP1):c.723C>G (p.Ser241Arg)	CNTNAP1 (S241R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939175	NM_003632.3(CNTNAP1):c.760G>A (p.Ala254Thr)	CNTNAP1 (A254T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 775384	NM_003632.3(CNTNAP1):c.765C>T (p.Gly255=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2121970	NM_003632.3(CNTNAP1):c.819C>T (p.Arg273=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2513211	NM_003632.3(CNTNAP1):c.842G>T (p.Gly281Val)	CNTNAP1 (G281V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1911756	NM_003632.3(CNTNAP1):c.877G>C (p.Glu293Gln)	CNTNAP1 (E293Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068137	NM_003632.3(CNTNAP1):c.895A>T (p.Thr299Ser)	CNTNAP1 (T299S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1241421	NM_003632.3(CNTNAP1):c.900+243dup	CNTNAP1	Duplication (intron variant)	not provided	GBenign
Select item 1242919	NM_003632.3(CNTNAP1):c.900+244T>A	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 5