ClinVar for Gene (Select 2670) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 533

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372487	NM_002055.5(GFAP):c.695C>A (p.Thr232Asn)	GFAP (T232N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371101	NM_002055.5(GFAP):c.161T>A (p.Leu54Gln)	GFAP (L54Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364180	NM_002055.5(GFAP):c.980C>T (p.Ala327Val)	GFAP (A327V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363906	NM_002055.5(GFAP):c.370C>T (p.Arg124Trp)	GFAP (R124W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362276	NM_002055.5(GFAP):c.646G>A (p.Ala216Thr)	GFAP (A216T)	Single nucleotide variant (missense variant)	Alexander disease	GPathogenic
Select item 3361680	NM_002055.5(GFAP):c.545C>A (p.Ala182Asp)	GFAP (A182D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360615	NM_002055.5(GFAP):c.750G>A (p.Met250Ile)	GFAP (M250I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359749	NM_002055.5(GFAP):c.824T>G (p.Leu275Arg)	GFAP (L275R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359109	NM_002055.5(GFAP):c.1106T>C (p.Leu369Pro)	GFAP (L369P)	Single nucleotide variant (missense variant)	Alexander disease	GPathogenic
Select item 3349130	NM_002055.5(GFAP):c.358C>A (p.Leu120Met)	GFAP (L120M)	Single nucleotide variant (missense variant)	GFAP-related disorder	GUncertain significance
Select item 3348301	NM_002055.5(GFAP):c.618+10G>A	GFAP	Single nucleotide variant (intron variant)	GFAP-related disorder	GLikely benign
Select item 3344171	NM_002055.5(GFAP):c.1138C>T (p.Pro380Ser)	GFAP (P380S)	Single nucleotide variant (missense variant)	GFAP-related disorder	GUncertain significance
Select item 3342953	NM_002055.5(GFAP):c.1004G>T (p.Gly335Val)	GFAP (G335V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341738	NM_001258400.2(FAM187A):c.1116T>G (p.Pro372=)	CCDC103, FAM187A +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3341110	GRCh37/hg19 17q21.31(chr17:42927777-43706954)x1	ACBD4, ARHGAP27 +16 more	Copy number loss	Hereditary syndromic Pierre Robin syndrome	GPathogenic
Select item 3340223	NM_002055.5(GFAP):c.1031G>A (p.Arg344His)	GFAP (R344H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337145	NM_002055.5(GFAP):c.424G>C (p.Asp142His)	GFAP (D142H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337144	NM_002055.5(GFAP):c.990del (p.Leu331fs)	GFAP (L331fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3281230	NM_002055.5(GFAP):c.584A>T (p.Glu195Val)	GFAP (E195V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254989	NM_002055.5(GFAP):c.223G>A (p.Glu75Lys)	GFAP (E75K)	Single nucleotide variant (missense variant)	Alexander disease	GUncertain significance
Select item 3253538	NM_002055.5(GFAP):c.1034A>C (p.His345Pro)	GFAP (H345P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3234940	NM_002055.5(GFAP):c.621G>T (p.Glu207Asp)	GFAP (E207D)	Single nucleotide variant (missense variant)	Alexander disease	GLikely pathogenic
Select item 3099432	NM_002055.5(GFAP):c.1102A>C (p.Lys368Gln)	GFAP, LOC130060994 (K368Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066224	NM_002055.5(GFAP):c.913T>C (p.Ser305Pro)	GFAP (S305P)	Single nucleotide variant (missense variant)	Alexander disease	GUncertain significance
Select item 3064728	NM_002055.5(GFAP):c.1127+5G>A	GFAP, LOC130060994	Single nucleotide variant (intron variant)	Alexander disease	GUncertain significance
Select item 3063710	NM_002055.5(GFAP):c.428A>G (p.Asn143Ser)	GFAP (N143S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051628	NM_002055.5(GFAP):c.1171+149A>G	GFAP	Single nucleotide variant (3 prime UTR variant +1 more)	GFAP-related disorder	GLikely benign
Select item 3029885	NM_002055.5(GFAP):c.1171+461G>C	GFAP	Single nucleotide variant (synonymous variant +2 more)	GFAP-related disorder	GLikely benign
Select item 3026239	NM_002055.5(GFAP):c.1171+66T>A	GFAP (L413M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3024231	NM_002055.5(GFAP):c.227T>C (p.Leu76Pro)	GFAP (L76P)	Single nucleotide variant (missense variant)	Alexander disease	GLikely pathogenic
Select item 3018416	NM_002055.5(GFAP):c.1171+450G>A	GFAP (V423I)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3008369	NM_002055.5(GFAP):c.1182G>A (p.Leu394=)	GFAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007822	NM_002055.5(GFAP):c.136C>T (p.Leu46Phe)	GFAP (L46F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005467	NM_002055.5(GFAP):c.1171+396A>G	GFAP (R405G)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3004214	NM_002055.5(GFAP):c.1171+398dup	GFAP (Y406fs)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2992262	NM_002055.5(GFAP):c.548G>T (p.Arg183Leu)	GFAP (R183L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984585	NM_002055.5(GFAP):c.1171+463C>T	GFAP (P427L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2971919	NM_002055.5(GFAP):c.1171+16C>T	GFAP (A396V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2968658	NM_002055.5(GFAP):c.910G>A (p.Glu304Lys)	GFAP (E304K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968233	NM_002055.5(GFAP):c.462-11C>T	GFAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960976	NM_002055.5(GFAP):c.1258-9C>A	GFAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960882	NM_002055.5(GFAP):c.1171+20G>A	GFAP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2915904	NM_002055.5(GFAP):c.173T>C (p.Leu58Pro)	GFAP (L58P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907011	NM_002055.5(GFAP):c.70G>A (p.Gly24Ser)	GFAP (G24S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904130	NM_002055.5(GFAP):c.69G>C (p.Gly23=)	GFAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886586	NM_002055.5(GFAP):c.1171+375G>A	GFAP (G398R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2885907	NM_002055.5(GFAP):c.1171+374C>T	GFAP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2884518	NM_002055.5(GFAP):c.907-6C>G	GFAP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2879108	NM_002055.5(GFAP):c.593G>A (p.Arg198Gln)	GFAP (R198Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870392	NM_002055.5(GFAP):c.63G>A (p.Met21Ile)	GFAP (M21I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851474	NM_002055.5(GFAP):c.157T>G (p.Ser53Ala)	GFAP (S53A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850985	NM_002055.5(GFAP):c.306C>G (p.Asn102Lys)	GFAP (N102K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2846397	NM_002055.5(GFAP):c.423G>T (p.Arg141Ser)	GFAP (R141S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843213	NM_002055.5(GFAP):c.694A>C (p.Thr232Pro)	GFAP (T232P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2840017	NM_002055.5(GFAP):c.700G>A (p.Ala234Thr)	GFAP (A234T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2833696	NM_002055.5(GFAP):c.522+1G>T	GFAP	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2827301	NM_002055.5(GFAP):c.1047C>T (p.Tyr349=)	GFAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821315	NM_002055.5(GFAP):c.906G>T (p.Thr302=)	GFAP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2799839	NM_002055.5(GFAP):c.264C>T (p.Arg88=)	GFAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796807	NM_002055.5(GFAP):c.867G>A (p.Leu289=)	GFAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791237	NM_002055.5(GFAP):c.618+15G>C	GFAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784318	NM_002055.5(GFAP):c.1171+1_1171+5del	GFAP (G391fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2783824	NM_002055.5(GFAP):c.576G>A (p.Ser192=)	GFAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2770691	NM_002055.5(GFAP):c.1128G>C (p.Arg376=)	GFAP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2768154	NM_002055.5(GFAP):c.869A>C (p.Gln290Pro)	GFAP (Q290P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761694	NM_002055.5(GFAP):c.344T>C (p.Val115Ala)	GFAP (V115A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759752	NM_002055.5(GFAP):c.222G>A (p.Met74Ile)	GFAP (M74I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2739845	NM_002055.5(GFAP):c.142A>T (p.Thr48Ser)	GFAP (T48S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2739841	NM_002055.5(GFAP):c.200C>G (p.Ala67Gly)	GFAP (A67G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2736606	NM_002055.5(GFAP):c.231T>A (p.Asn77Lys)	GFAP (N77K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2736605	NM_002055.5(GFAP):c.826C>T (p.Arg276Cys)	GFAP (R276C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716558	NM_002055.5(GFAP):c.618+18G>C	GFAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2715627	NM_002055.5(GFAP):c.852C>T (p.Asp284=)	GFAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699734	NM_002055.5(GFAP):c.359T>C (p.Leu120Pro)	GFAP (L120P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695257	NM_002055.5(GFAP):c.1263del (p.Lys422fs)	GFAP (K422fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2683430	NM_002055.5(GFAP):c.694A>G (p.Thr232Ala)	GFAP (T232A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672698	NM_002055.5(GFAP):c.498G>T (p.Glu166Asp)	GFAP (E166D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647843	NM_002055.5(GFAP):c.-1G>A	GFAP	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2647842	NM_002055.5(GFAP):c.76G>A (p.Ala26Thr)	GFAP (A26T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647841	NM_002055.5(GFAP):c.1171+139G>A	GFAP (R437H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2647840	NM_002055.5(GFAP):c.1171+143C>T	GFAP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2637775	NM_002055.5(GFAP):c.403G>A (p.Ala135Thr)	GFAP (A135T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2636929	NM_002055.5(GFAP):c.1078G>T (p.Asp360Tyr)	GFAP, LOC130060994 (D360Y)	Single nucleotide variant (missense variant)	GFAP-related disorder	GLikely pathogenic
Select item 2633794	NM_002055.5(GFAP):c.844G>A (p.Ala282Thr)	GFAP (A282T)	Single nucleotide variant (missense variant)	GFAP-related disorder	GUncertain significance
Select item 2574881	NM_002055.5(GFAP):c.514T>C (p.Tyr172His)	GFAP (Y172H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574229	NM_002055.5(GFAP):c.1054C>G (p.Leu352Val)	GFAP (L352V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573917	NM_002055.5(GFAP):c.1245G>A (p.Met415Ile)	GFAP (M415I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2511738	NM_002055.5(GFAP):c.575C>T (p.Ser192Leu)	GFAP (S192L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2510730	NM_002055.5(GFAP):c.643C>G (p.Leu215Val)	GFAP (L215V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500184	NM_002055.5(GFAP):c.53G>T (p.Gly18Val)	GFAP (G18V)	Single nucleotide variant (missense variant)	GFAP-related disorder	GPathogenic
Select item 2498708	NM_002055.5(GFAP):c.88C>T (p.Arg30Cys)	GFAP (R30C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498707	NM_002055.5(GFAP):c.607A>G (p.Ile203Val)	GFAP (I203V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498706	NM_002055.5(GFAP):c.1236C>T (p.Thr412=)	GFAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2496557	NM_002055.5(GFAP):c.31C>G (p.Arg11Gly)	GFAP (R11G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482868	NM_002055.5(GFAP):c.1135A>G (p.Ile379Val)	GFAP (I379V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432112	NM_002055.5(GFAP):c.719C>T (p.Thr240Met)	GFAP (T240M)	Single nucleotide variant (missense variant)	Alexander disease	GUncertain significance
Select item 2432111	NM_002055.5(GFAP):c.625C>G (p.Arg209Gly)	GFAP (R209G)	Single nucleotide variant (missense variant)	Alexander disease	GUncertain significance
Select item 2402507	NM_002055.5(GFAP):c.13C>T (p.Arg5Cys)	GFAP (R5C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

<< First< Prev

Page of 6