ClinVar for Gene (Select 375298) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362593	NM_201548.5(CERKL):c.695del (p.Gly232fs)	CERKL (G214fs +2 more)	Deletion (frameshift variant +2 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 3355280	NM_201548.5(CERKL):c.678T>C (p.Gly226=)	CERKL	Single nucleotide variant (synonymous variant +2 more)	CERKL-related disorder	GLikely benign
Select item 3266321	NM_201548.5(CERKL):c.1233T>G (p.Cys411Trp)	CERKL (C411W +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3247474	NC_000002.11:g.(?_182409407)_(182414455_?)dup	CERKL	Duplication	not provided	GLikely pathogenic
Select item 3247473	NC_000002.11:g.(?_182468544)_(182468826_?)dup	CERKL	Duplication	not provided	GUncertain significance
Select item 3241135	NM_201548.5(CERKL):c.652del (p.Glu218fs)	CERKL (E174fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 3241134	NM_201548.5(CERKL):c.1350del (p.Ser451fs)	CERKL (S338fs +4 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 3241133	NM_201548.5(CERKL):c.1250del (p.Gly417fs)	CERKL (G304fs +4 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 3241132	NM_201548.5(CERKL):c.637_638del (p.Leu213fs)	CERKL (L169fs +1 more)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 3241131	NM_201548.5(CERKL):c.1361del (p.Asn454fs)	CERKL (N341fs +4 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 3241130	NM_201548.5(CERKL):c.613+2T>C	CERKL	Single nucleotide variant (intron variant +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 3143149	NM_201548.5(CERKL):c.906G>T (p.Gln302His)	CERKL (Q302H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143148	NM_201548.5(CERKL):c.448A>G (p.Ile150Val)	CERKL (I150V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3143147	NM_201548.5(CERKL):c.163G>T (p.Gly55Trp)	CERKL (G55W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143146	NM_201548.5(CERKL):c.1093T>C (p.Ser365Pro)	CERKL (S391P +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3075993	NM_201548.5(CERKL):c.1177C>T (p.Gln393Ter)	CERKL (Q280* +4 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 3064161	NM_201548.5(CERKL):c.238G>A (p.Gly80Ser)	CERKL, LOC129935214 (G80S)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 26	GUncertain significance
Select item 3063848	NM_201548.5(CERKL):c.1538+4A>C	CERKL	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3062599	GRCh37/hg19 2q31.3(chr2:182455993-182478776)x1	CERKL	Copy number loss	not specified	GUncertain significance
Select item 3062008	NM_201548.5(CERKL):c.1241C>G (p.Ala414Gly)	CERKL (A301G +4 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 26	GUncertain significance
Select item 3061943	NM_201548.5(CERKL):c.1561_1564dup (p.Tyr522fs)	CERKL, ITGA4 (Y409fs +4 more)	Duplication (frameshift variant +2 more)	Retinitis pigmentosa 26	GPathogenic
Select item 3028893	NM_201548.5(CERKL):c.1013G>A (p.Arg338Gln)	CERKL (R225Q +4 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028892	NM_201548.5(CERKL):c.1370A>G (p.Asn457Ser)	CERKL (N344S +4 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028891	NM_201548.5(CERKL):c.1393A>G (p.Thr465Ala)	CERKL (T352A +4 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028889	NM_201548.5(CERKL):c.1442A>G (p.Asn481Ser)	CERKL (N368S +4 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028888	NM_201548.5(CERKL):c.1466C>A (p.Thr489Asn)	CERKL (T376N +4 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028887	NM_201548.5(CERKL):c.1579_1596dup (p.Lys532_Ter533insGluGluMetIleProLys)	CERKL, ITGA4	Duplication (inframe_insertion +2 more)	Retinal dystrophy	GUncertain significance
Select item 3027517	NM_201548.5(CERKL):c.150C>A (p.Gly50=)	CERKL	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027516	NM_201548.5(CERKL):c.272A>G (p.Glu91Gly)	CERKL (E91G)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027515	NM_201548.5(CERKL):c.390A>G (p.Gln130=)	CERKL	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027514	NM_201548.5(CERKL):c.402G>A (p.Lys134=)	CERKL	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027513	NM_201548.5(CERKL):c.638dup (p.Ser214fs)	CERKL (S170fs +1 more)	Duplication (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3027512	NM_201548.5(CERKL):c.639del (p.Ser214fs)	CERKL (S170fs +1 more)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3023860	NM_201548.5(CERKL):c.1539-15G>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3021537	NM_201548.5(CERKL):c.1269-19T>C	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020175	NM_201548.5(CERKL):c.1539-13A>C	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3020171	NM_201548.5(CERKL):c.1539-10T>G	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3020168	NM_201548.5(CERKL):c.1539-6T>G	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3019702	NM_201548.5(CERKL):c.677+640T>C	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018023	NM_201548.5(CERKL):c.1269-14A>G	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016843	NM_201548.5(CERKL):c.1159+14T>G	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016149	NM_201548.5(CERKL):c.1217C>T (p.Ala406Val)	CERKL (A337V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3011602	NM_201548.5(CERKL):c.613+19A>G	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009256	NM_201548.5(CERKL):c.579G>T (p.Leu193=)	CERKL	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3007319	NM_201548.5(CERKL):c.991T>C (p.Leu331=)	CERKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004833	NM_201548.5(CERKL):c.637C>T (p.Leu213=)	CERKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998912	NM_201548.5(CERKL):c.238+15C>T	CERKL, LOC129935214	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996980	NM_201548.5(CERKL):c.1365+13C>G	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994366	NM_201548.5(CERKL):c.614-19G>A	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994137	NM_201548.5(CERKL):c.481+13C>T	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992878	NM_201548.5(CERKL):c.1366-15T>C	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990964	NM_201548.5(CERKL):c.94C>T (p.Leu32=)	CERKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2989145	NM_201548.5(CERKL):c.1538+17C>T	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986340	NM_201548.5(CERKL):c.1025del (p.Pro342fs)	CERKL (P273fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2986014	NM_201548.5(CERKL):c.678-12G>T	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983125	NM_201548.5(CERKL):c.238+15C>G	CERKL, LOC129935214	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983123	NM_201548.5(CERKL):c.238+16del	CERKL, LOC129935214	Deletion (intron variant)	not provided	GBenign
Select item 2981316	NM_201548.5(CERKL):c.238+3G>A	CERKL, LOC129935214	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2980381	NM_201548.5(CERKL):c.677+636T>C	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978778	NM_201548.5(CERKL):c.366C>G (p.Leu122=)	CERKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2976765	NM_201548.5(CERKL):c.677+626G>A	CERKL	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2973895	NM_201548.5(CERKL):c.482-12del	CERKL	Deletion (intron variant)	not provided	GBenign
Select item 2972400	NM_201548.5(CERKL):c.238+18A>G	CERKL, LOC129935214	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971873	NM_201548.5(CERKL):c.1110C>T (p.Asn370=)	CERKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2970951	NM_201548.5(CERKL):c.1268+9G>C	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970950	NM_201548.5(CERKL):c.1268+11A>T	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970354	NM_201548.5(CERKL):c.246T>G (p.Ser82=)	CERKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2968872	NM_201548.5(CERKL):c.1160-17A>G	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967459	NM_201548.5(CERKL):c.481+18G>A	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963859	NM_201548.5(CERKL):c.1366-20T>C	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956246	NM_201548.5(CERKL):c.238+11G>A	CERKL, LOC129935214	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955674	NM_201548.5(CERKL):c.1554T>C (p.Leu518=)	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2955227	NM_201548.5(CERKL):c.1302C>A (p.Ala434=)	CERKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2918410	NM_201548.5(CERKL):c.677+535A>G	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916728	NM_201548.5(CERKL):c.678-16A>C	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915685	NM_201548.5(CERKL):c.645G>C (p.Leu215=)	CERKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2914227	NM_201548.5(CERKL):c.927C>T (p.Phe309=)	CERKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2913704	NM_201548.5(CERKL):c.1074-2A>C	CERKL	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 26 +1 more	GLikely pathogenic
Select item 2912112	NM_201548.5(CERKL):c.255C>T (p.Asp85=)	CERKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2910723	NM_201548.5(CERKL):c.678-15T>C	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909642	NM_201548.5(CERKL):c.1366-11T>C	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908969	NM_201548.5(CERKL):c.1539-14T>C	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2908476	NM_201548.5(CERKL):c.238+10C>T	CERKL, LOC129935214	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907262	NM_201548.5(CERKL):c.1366-14G>T	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905600	NM_201548.5(CERKL):c.18C>A (p.Arg6=)	CERKL, LOC129935215	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2904945	NM_201548.5(CERKL):c.895+19C>T	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901669	NM_201548.5(CERKL):c.1160-18C>T	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897618	NM_201548.5(CERKL):c.1494T>C (p.Asn498=)	CERKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2897350	NM_201548.5(CERKL):c.239-16T>A	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896587	NM_201548.5(CERKL):c.677+638A>C	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896401	NM_201548.5(CERKL):c.1015T>A (p.Trp339Arg)	CERKL (W226R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2895938	NM_201548.5(CERKL):c.1134-16_1134-12del	CERKL	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2891799	NM_201548.5(CERKL):c.896-16T>C	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888116	NM_201548.5(CERKL):c.239-18A>T	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887070	NM_201548.5(CERKL):c.1347T>C (p.Tyr449=)	CERKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2884129	NM_201548.5(CERKL):c.1159+15A>G	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879974	NM_201548.5(CERKL):c.1026T>C (p.Pro342=)	CERKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2878669	NM_201548.5(CERKL):c.896-19_896-13del	CERKL	Deletion (intron variant)	not provided	GLikely benign
Select item 2875865	NM_201548.5(CERKL):c.1365+11T>A	CERKL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871285	NM_201548.5(CERKL):c.1050_1053del (p.Val351fs)	CERKL (V333fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic

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