ClinVar for Gene (Select 4774) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 352

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378271	NM_001134673.4(NFIA):c.1444C>T (p.Pro482Ser)	NFIA (P474S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3378183	NM_001134673.4(NFIA):c.539C>T (p.Ala180Val)	NFIA (A172V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372789	NM_001134673.4(NFIA):c.229G>A (p.Ala77Thr)	NFIA (A122T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372448	NM_001134673.4(NFIA):c.1006C>G (p.Pro336Ala)	NFIA (P328A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372345	NM_001134673.4(NFIA):c.617C>T (p.Pro206Leu)	NFIA (P198L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371210	NM_001134673.4(NFIA):c.830G>T (p.Arg277Leu)	NFIA (R269L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367766	NM_001134673.4(NFIA):c.289G>T (p.Gly97Trp)	NFIA (G142W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364717	NM_001134673.4(NFIA):c.131A>G (p.His44Arg)	NFIA (H36R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364557	NM_001134673.4(NFIA):c.581C>T (p.Pro194Leu)	NFIA (P186L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360111	NM_001134673.4(NFIA):c.344GAA[4] (p.Arg116_Ile117insArgArg)	NFIA	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 3360054	NM_001145511.2(NFIA):c.3+4318G>A	LOC122056894, NFIA (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3344300	NM_001134673.4(NFIA):c.17_18del (p.Cys6fs)	NFIA (C51fs +1 more)	Deletion (frameshift variant +1 more)	NFIA-related disorder	GLikely pathogenic
Select item 3341683	NM_001134673.4(NFIA):c.702A>G (p.Thr234=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3338672	NM_001134673.4(NFIA):c.875dup (p.Phe293fs)	NFIA (F285fs +2 more)	Duplication (frameshift variant)	Brain malformations with or without urinary tract defects	GLikely pathogenic
Select item 3337392	NM_001134673.4(NFIA):c.430A>G (p.Ser144Gly)	NFIA (S136G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257236	NM_001134673.4(NFIA):c.977C>T (p.Ser326Leu)	NFIA (S318L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247971	NC_000001.10:g.(?_61548464)_(61554372_?)dup	NFIA	Duplication	not provided	GUncertain significance
Select item 3247793	NC_000001.10:g.(?_61548464)_(67861772_?)dup	AK4, ALG6 +32 more	Duplication	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 3197482	NM_001134673.4(NFIA):c.358C>T (p.Leu120Phe)	NFIA (L165F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3197480	NM_001134673.4(NFIA):c.267G>C (p.Glu89Asp)	NFIA (E81D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3197468	NM_001134673.4(NFIA):c.23C>G (p.Thr8Ser)	NFIA (T53S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3197452	NM_001134673.4(NFIA):c.1211G>C (p.Cys404Ser)	NFIA (C449S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3069047	NM_001134673.4(NFIA):c.706A>G (p.Ile236Val)	NFIA (I228V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067209	NM_001134673.4(NFIA):c.1255-5C>A	NFIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3065686	NM_001134673.4(NFIA):c.650_651del (p.Phe217fs)	NFIA (F209fs +2 more)	Deletion (frameshift variant)	Brain malformations with or without urinary tract defects	GLikely pathogenic
Select item 3063991	NM_001134673.4(NFIA):c.946+16G>T	NFIA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3063410	GRCh37/hg19 1p32.1-31.3(chr1:59121165-62057570)x1	C1orf87, CYP2J2 +5 more	Copy number loss	not specified	GPathogenic
Select item 3062689	GRCh37/hg19 1p32.1-31.3(chr1:60641326-65216639)x1	ALG6, ANGPTL3 +16 more	Copy number loss	not specified	GPathogenic
Select item 3062033	NM_001134673.4(NFIA):c.256G>A (p.Glu86Lys)	NFIA (E131K +2 more)	Single nucleotide variant (missense variant)	Brain malformations with or without urinary tract defects +1 more	GUncertain significance
Select item 3045812	NM_001134673.4(NFIA):c.1255-8_1255-7insG	NFIA	Insertion (intron variant)	NFIA-related disorder	GLikely benign
Select item 3043270	NM_001134673.4(NFIA):c.1255-8_1255-7insT	NFIA	Insertion (intron variant)	NFIA-related disorder	GLikely benign
Select item 3041453	NM_001134673.4(NFIA):c.834C>G (p.Leu278=)	NFIA	Single nucleotide variant (synonymous variant)	NFIA-related disorder	GLikely benign
Select item 3034469	NM_001134673.4(NFIA):c.1255-9C>T	NFIA	Single nucleotide variant (intron variant)	NFIA-related disorder	GLikely benign
Select item 3030877	NM_001145512.2(NFIA):c.40G>A (p.Val14Met)	LOC122056894, NFIA (V14M)	Single nucleotide variant (missense variant +1 more)	NFIA-related disorder	GLikely benign
Select item 3026432	NM_001134673.4(NFIA):c.1255-8_1255-7insGC	NFIA	Insertion (intron variant)	not provided	GUncertain significance
Select item 3026014	NM_001134673.4(NFIA):c.102G>A (p.Gln34=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022387	NM_001134673.4(NFIA):c.249C>T (p.Ile83=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021217	NM_001134673.4(NFIA):c.1232C>T (p.Ala411Val)	NFIA (A411V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013184	NM_001134673.4(NFIA):c.576A>G (p.Glu192=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012650	NM_001134673.4(NFIA):c.153A>G (p.Glu51=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002840	NM_001134673.4(NFIA):c.384G>A (p.Arg128=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001909	NM_001134673.4(NFIA):c.625+11C>T	NFIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000991	NM_001134673.4(NFIA):c.946+15G>A	NFIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995552	NM_001134673.4(NFIA):c.818+15A>C	NFIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988103	NM_001134673.4(NFIA):c.645C>T (p.Asp215=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980329	NM_001134673.4(NFIA):c.423G>A (p.Pro141=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980151	NM_001134673.4(NFIA):c.201C>T (p.Val67=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977348	NM_001134673.4(NFIA):c.816G>A (p.Thr272=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975348	NM_001134673.4(NFIA):c.1200C>A (p.Val400=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973617	NM_001134673.4(NFIA):c.631T>C (p.Leu211=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973099	NM_001134673.4(NFIA):c.735T>C (p.Ser245=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959813	NM_001134673.4(NFIA):c.1120C>T (p.Pro374Ser)	NFIA (P374S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2957362	NM_001134673.4(NFIA):c.947-14A>C	NFIA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2916162	NM_001134673.4(NFIA):c.1413G>T (p.Thr471=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913751	NM_001134673.4(NFIA):c.477A>G (p.Pro159=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906875	NM_001134673.4(NFIA):c.1095A>G (p.Pro365=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896330	NC_000001.11:g.61404107_61404118del	NFIA	Deletion	not provided	GUncertain significance
Select item 2892018	NM_001134673.4(NFIA):c.1076-6C>T	NFIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890826	NM_001134673.4(NFIA):c.1263G>C (p.Gly421=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880748	NM_001134673.4(NFIA):c.792G>A (p.Arg264=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874596	NM_001134673.4(NFIA):c.1412C>T (p.Thr471Met)	NFIA (T463M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871682	NM_001134673.4(NFIA):c.274del (p.Val92fs)	NFIA (V137fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2857629	NM_001134673.4(NFIA):c.1211G>A (p.Cys404Tyr)	NFIA (C449Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853343	NM_001134673.4(NFIA):c.491A>C (p.Gln164Pro)	NFIA (Q156P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820503	NM_001134673.4(NFIA):c.15C>T (p.Leu5=)	NFIA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2814212	NM_001134673.4(NFIA):c.626-6C>A	NFIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801124	NM_001134673.4(NFIA):c.909T>C (p.Ser303=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800325	NM_001134673.4(NFIA):c.819-17C>A	NFIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799996	NM_001134673.4(NFIA):c.1153C>T (p.His385Tyr)	NFIA (H385Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795225	NM_001134673.4(NFIA):c.947-6T>C	NFIA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2787653	NM_001134673.4(NFIA):c.1273G>A (p.Gly425Ser)	NFIA (G417S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786615	NM_001134673.4(NFIA):c.246T>C (p.Asp82=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785019	NM_001134673.4(NFIA):c.946+6_946+7dup	NFIA	Duplication (intron variant)	not provided	GLikely benign
Select item 2782475	NM_001134673.4(NFIA):c.1221T>C (p.Ala407=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778516	NM_001134673.4(NFIA):c.28-6T>G	NFIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777172	NM_001134673.4(NFIA):c.166G>A (p.Val56Met)	NFIA (V48M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2758879	NM_001134673.4(NFIA):c.1118C>G (p.Ser373Ter)	NFIA (S365* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2738411	NM_001134673.4(NFIA):c.25C>T (p.Gln9Ter)	NFIA (Q54* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2716473	NM_001134673.4(NFIA):c.1513-9G>A	NFIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2715322	NM_001134673.4(NFIA):c.1420A>C (p.Thr474Pro)	NFIA (T474P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692732	NM_001134673.4(NFIA):c.832C>G (p.Leu278Val)	NFIA (L278V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690897	NM_001134673.4(NFIA):c.27+1G>C	NFIA	Single nucleotide variant (intron variant +1 more)	Brain malformations with or without urinary tract defects	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2662449	NM_001145511.2(NFIA):c.3+4381C>A	LOC122056894, NFIA (C22*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2662160	NM_001134673.4(NFIA):c.1311GCCACC[2] (p.Pro443_Pro444del)	NFIA	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2662074	NM_001134673.4(NFIA):c.776C>T (p.Pro259Leu)	NFIA (P251L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638856	NM_001134673.4(NFIA):c.1473A>T (p.Pro491=)	NFIA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638855	NM_001134673.4(NFIA):c.1255-5dup	NFIA	Duplication (intron variant)	not provided	GLikely benign
Select item 2638854	NM_001134673.4(NFIA):c.1255-8C>T	NFIA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2638853	NM_001134673.4(NFIA):c.700+4A>T	NFIA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2638852	NM_001134673.4(NFIA):c.486T>C (p.Cys162=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582857	NM_001134673.4(NFIA):c.440G>A (p.Gly147Asp)	NFIA (G139D +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2582092	NM_001134673.4(NFIA):c.1496T>C (p.Ile499Thr)	NFIA (I491T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2580590	NM_001134673.4(NFIA):c.416G>A (p.Gly139Asp)	NFIA (G131D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580539	NM_001134673.4(NFIA):c.85A>T (p.Thr29Ser)	NFIA (T21S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579168	GRCh38/hg38 1p31.3(chr1:61077177-62865614)x1	ANGPTL3, ATG4C +43 more	Copy number loss	Brain malformations with or without urinary tract defects	GPathogenic
Select item 2578576	NM_001134673.4(NFIA):c.889C>T (p.Gln297Ter)	NFIA (Q289* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2573851	NM_001134673.4(NFIA):c.*13C>T	NFIA (S484F)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2572785	NM_001134673.4(NFIA):c.198G>C (p.Glu66Asp)	NFIA (E111D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572617	NM_001134673.4(NFIA):c.925G>T (p.Gly309Ter)	NFIA (G301* +2 more)	Single nucleotide variant (nonsense)	Brain malformations with or without urinary tract defects	GLikely pathogenic

<< First< Prev

Page of 4