ClinVar for Gene (Select 4983) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 538

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246916	NC_000023.10:g.(?_63409759)_(71933728_?)dup	AWAT1, AWAT2 +55 more	Duplication	not provided	GUncertain significance
Select item 3246540	NC_000023.10:g.(?_66863078)_(67339194_?)dup	AR, OPHN1	Duplication	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	MIR1468, MIR1587 +2598 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3233647	NM_002547.3(OPHN1):c.1848T>C (p.His616=)	OPHN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3204356	NM_002547.3(OPHN1):c.98A>G (p.Asn33Ser)	OPHN1 (N33S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3204354	NM_002547.3(OPHN1):c.2110_2111del (p.Phe704fs)	OPHN1 (F704fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3204353	NM_002547.3(OPHN1):c.1687-4A>G	OPHN1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 3064057	NM_002547.3(OPHN1):c.4G>C (p.Gly2Arg)	OPHN1 (G2R)	Single nucleotide variant (missense variant)	OPHN1-related disorder	Gnot provided
Select item 3062578	GRCh37/hg19 Xq12-13.1(chrX:66896135-68529063)	AR, EFNB1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3062562	GRCh37/hg19 Xq12(chrX:67404716-67468068)	OPHN1	Copy number loss	not specified	GPathogenic
Select item 3062529	GRCh37/hg19 Xq12(chrX:67404716-67443299)	OPHN1	Copy number loss	not specified	GPathogenic
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3061554	NM_002547.3(OPHN1):c.1687-10T>C	OPHN1	Single nucleotide variant (intron variant)	OPHN1-related disorder	GLikely benign
Select item 3041301	NM_002547.3(OPHN1):c.2189C>T (p.Pro730Leu)	OPHN1 (P730L)	Single nucleotide variant (missense variant)	OPHN1-related disorder	GUncertain significance
Select item 3030984	NM_002547.3(OPHN1):c.1138+4A>G	OPHN1	Single nucleotide variant (intron variant)	OPHN1-related disorder	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	GPC4, TAF9B +488 more	Copy number gain	not provided	GPathogenic
Select item 3017612	NM_002547.3(OPHN1):c.487-13C>G	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016923	NM_002547.3(OPHN1):c.2375+7T>G	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016922	NM_002547.3(OPHN1):c.2375+9T>A	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014000	NM_002547.3(OPHN1):c.2385C>A (p.Gly795=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001466	NM_002547.3(OPHN1):c.2224G>T (p.Val742Leu)	OPHN1 (V742L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991431	NM_002547.3(OPHN1):c.2220C>G (p.Pro740=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984577	NM_002547.3(OPHN1):c.1224C>A (p.Tyr408Ter)	OPHN1 (Y408*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2980237	NM_002547.3(OPHN1):c.1955C>T (p.Ser652Phe)	OPHN1 (S652F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2957587	NM_002547.3(OPHN1):c.2265A>G (p.Gln755=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920720	NM_002547.2(OPHN1):c.313_326del	OPHN1	Deletion	X-linked intellectual disability-cerebellar hypoplasia syndrome	GPathogenic
Select item 2917573	NM_002547.3(OPHN1):c.1526+10T>A	OPHN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2913321	NM_002547.3(OPHN1):c.230C>G (p.Thr77Ser)	OPHN1 (T77S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2911515	NM_002547.3(OPHN1):c.249C>A (p.Ile83=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910370	NM_002547.3(OPHN1):c.1374A>G (p.Glu458=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908360	NM_002547.3(OPHN1):c.1593C>G (p.Thr531=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906465	NM_002547.3(OPHN1):c.903G>A (p.Thr301=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2901349	NM_002547.3(OPHN1):c.154+14_154+17dup	OPHN1	Duplication (intron variant)	not provided	GLikely benign
Select item 2898747	NM_002547.3(OPHN1):c.2003T>C (p.Val668Ala)	OPHN1 (V668A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896622	NM_002547.3(OPHN1):c.1894C>T (p.Pro632Ser)	OPHN1 (P632S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890974	NM_002547.3(OPHN1):c.177A>G (p.Lys59=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2890262	NM_002547.3(OPHN1):c.1419C>T (p.Ala473=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2889046	NM_002547.3(OPHN1):c.1666C>T (p.Leu556=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2887949	NM_002547.3(OPHN1):c.148A>C (p.Met50Leu)	OPHN1 (M50L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873819	NM_002547.3(OPHN1):c.1834+13G>C	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867196	NM_002547.3(OPHN1):c.844A>G (p.Ile282Val)	OPHN1 (I282V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2864064	NM_002547.3(OPHN1):c.2169C>G (p.Asp723Glu)	OPHN1 (D723E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2863522	NM_002547.3(OPHN1):c.1139-17dup	OPHN1	Duplication (intron variant)	not provided	GBenign
Select item 2856340	NM_002547.3(OPHN1):c.2248C>T (p.Arg750Trp)	OPHN1 (R750W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2851412	NM_002547.3(OPHN1):c.703-13G>A	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842259	NM_002547.3(OPHN1):c.597+11T>G	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825863	NM_002547.3(OPHN1):c.1010_1011del (p.Ile337fs)	OPHN1 (I337fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2818621	NM_002547.3(OPHN1):c.2215C>T (p.Arg739Cys)	OPHN1 (R739C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801065	NM_002547.3(OPHN1):c.1263G>A (p.Leu421=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783008	NM_002547.3(OPHN1):c.598-4C>T	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2770842	NM_002547.3(OPHN1):c.2325-8G>A	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766988	NM_002547.3(OPHN1):c.1361+4T>A	OPHN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2766170	NM_002547.3(OPHN1):c.1323C>T (p.Asp441=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2756991	NM_002547.3(OPHN1):c.2098A>G (p.Lys700Glu)	OPHN1 (K700E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2741331	NM_002547.3(OPHN1):c.1026-10del	OPHN1	Deletion (intron variant)	not provided	GBenign
Select item 2738326	NM_002547.3(OPHN1):c.2162A>T (p.Asp721Val)	OPHN1 (D721V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2730879	NM_002547.3(OPHN1):c.2275C>G (p.Pro759Ala)	OPHN1 (P759A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2730691	NM_002547.3(OPHN1):c.525C>T (p.Phe175=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2728350	NM_002547.3(OPHN1):c.1890C>G (p.Pro630=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2727917	NM_002547.3(OPHN1):c.2388A>T (p.Arg796Ser)	OPHN1 (R796S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2724726	NM_002547.3(OPHN1):c.2325-19G>T	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2724487	NM_002547.3(OPHN1):c.2090G>T (p.Gly697Val)	OPHN1 (G697V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723569	NM_002547.3(OPHN1):c.1105-14A>G	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2712565	NM_002547.3(OPHN1):c.1277-20T>C	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2701848	NM_002547.3(OPHN1):c.234T>G (p.Asp78Glu)	OPHN1 (D78E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700439	NM_002547.3(OPHN1):c.899dup (p.Met300fs)	OPHN1 (M300fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2692527	NM_002547.3(OPHN1):c.127G>C (p.Gly43Arg)	OPHN1 (G43R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684989	GRCh37/hg19 Xq12(chrX:67134338-67595401)x3	OPHN1	Copy number gain	not provided	GUncertain significance
Select item 2672310	GRCh38/hg38 Xq12(chrX:68203479-68224263)x2	OPHN1	Copy number gain	Intellectual disability	GLikely pathogenic
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	KIF4A, LOC130068402 +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 2660782	NM_002547.3(OPHN1):c.522T>C (p.Phe174=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660781	NM_002547.3(OPHN1):c.1277-14C>T	OPHN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2660780	NM_002547.3(OPHN1):c.1554T>G (p.Leu518=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660779	NM_002547.3(OPHN1):c.2073A>G (p.Gly691=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660778	NM_002547.3(OPHN1):c.2217C>A (p.Arg739=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637016	NM_002547.3(OPHN1):c.931C>T (p.Gln311Ter)	OPHN1 (Q311*)	Single nucleotide variant (nonsense)	OPHN1-related disorder	GLikely pathogenic
Select item 2632700	NM_002547.3(OPHN1):c.467A>G (p.Lys156Arg)	OPHN1 (K156R)	Single nucleotide variant (missense variant)	OPHN1-related disorder	GUncertain significance
Select item 2632208	NM_002547.3(OPHN1):c.1378G>C (p.Val460Leu)	OPHN1 (V460L)	Single nucleotide variant (missense variant)	OPHN1-related disorder	GUncertain significance
Select item 2585370	NM_002547.3(OPHN1):c.1913T>C (p.Leu638Pro)	OPHN1 (L638P)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GUncertain significance
Select item 2582534	NM_002547.3(OPHN1):c.833G>C (p.Trp278Ser)	OPHN1 (W278S)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GUncertain significance
Select item 2580085	NM_002547.3(OPHN1):c.1829G>C (p.Ser610Thr)	OPHN1 (S610T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577722	NM_002547.3(OPHN1):c.488C>T (p.Ala163Val)	OPHN1 (A163V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575686	NM_002547.3(OPHN1):c.2401G>T (p.Glu801Ter)	OPHN1 (E801*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2574451	NM_002547.3(OPHN1):c.583A>G (p.Asn195Asp)	OPHN1 (N195D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573956	NM_002547.3(OPHN1):c.1717G>A (p.Ala573Thr)	OPHN1 (A573T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2540650	NM_002547.3(OPHN1):c.2019G>C (p.Leu673Phe)	OPHN1 (L673F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2536254	NM_002547.3(OPHN1):c.2392C>T (p.Pro798Ser)	OPHN1 (P798S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2507054	NM_002547.3(OPHN1):c.850T>G (p.Trp284Gly)	OPHN1 (W284G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2504180	NM_002547.3(OPHN1):c.1282A>C (p.Lys428Gln)	OPHN1 (K428Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501948	NM_002547.3(OPHN1):c.1070G>A (p.Arg357Lys)	OPHN1 (R357K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500936	NM_002547.3(OPHN1):c.1450_1453dup (p.Ile485fs)	OPHN1 (I485fs)	Duplication (frameshift variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GLikely pathogenic
Select item 2500509	NM_002547.3(OPHN1):c.56G>C (p.Arg19Pro)	OPHN1 (R19P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499954	NM_002547.3(OPHN1):c.1320G>T (p.Trp440Cys)	OPHN1 (W440C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499856	NM_002547.3(OPHN1):c.-2C>T	OPHN1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2492755	NM_002547.3(OPHN1):c.2008G>A (p.Val670Met)	OPHN1 (V670M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490885	NM_002547.3(OPHN1):c.2310A>T (p.Glu770Asp)	OPHN1 (E770D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444857	NM_002547.3(OPHN1):c.597+1del	OPHN1	Deletion (splice donor variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GLikely pathogenic
Select item 2441882	NM_002547.3(OPHN1):c.598-1G>C	OPHN1	Single nucleotide variant (splice acceptor variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GLikely pathogenic
Select item 2441799	NM_002547.3(OPHN1):c.1714G>C (p.Ala572Pro)	OPHN1 (A572P)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GUncertain significance

<< First< Prev

Page of 6