ClinVar for MedGen (Select 45811) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239681	NM_000243.3(MEFV):c.590del (p.Gly197fs)	MEFV (G197fs)	Deletion (frameshift variant +1 more)	Familial Mediterranean fever	GLikely pathogenic
Select item 3022040	NM_000243.3(MEFV):c.1261-10G>A	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 3018850	NM_000243.3(MEFV):c.966A>G (p.Pro322=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 3018841	NM_000243.3(MEFV):c.1759+9A>G	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 3018526	NM_000243.3(MEFV):c.126G>C (p.Arg42=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 3018035	NM_000243.3(MEFV):c.1281G>A (p.Leu427=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 3016087	NM_000243.3(MEFV):c.832C>A (p.Arg278=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 3015422	NM_000243.3(MEFV):c.1357-16G>A	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 3014696	NM_000243.3(MEFV):c.1629C>T (p.Val543=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 3014416	NM_000243.3(MEFV):c.277+17C>T	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 3009632	NM_000243.3(MEFV):c.1986G>A (p.Lys662=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 3007971	NM_000243.3(MEFV):c.1792+11A>G	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 3007710	NM_000243.3(MEFV):c.2301A>G (p.Thr767=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 3003806	NM_000243.3(MEFV):c.2076A>T (p.Ile692=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 3003804	NM_000243.3(MEFV):c.552C>A (p.Gly184=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 3002868	NM_000243.3(MEFV):c.910+13C>A	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2999701	NM_000243.3(MEFV):c.1500C>T (p.Thr500=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2998947	NM_000243.3(MEFV):c.300C>A (p.Gly100=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2994121	NM_000243.3(MEFV):c.1449A>G (p.Ser483=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2992215	NM_000243.3(MEFV):c.1759+13G>T	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2987957	NM_000243.3(MEFV):c.1357-8C>T	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2984451	NM_000243.3(MEFV):c.1959T>C (p.Arg653=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2982146	NM_000243.3(MEFV):c.1428_1429delinsGA (p.Glu477Lys)	MEFV (E266K +1 more)	Indel (missense variant)	Familial Mediterranean fever	GUncertain significance
Select item 2980370	NM_000243.3(MEFV):c.1671C>A (p.Ile557=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2969963	NM_000243.3(MEFV):c.1527C>G (p.Leu509=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2964772	NM_000243.3(MEFV):c.2016A>T (p.Thr672=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2963964	NM_000243.3(MEFV):c.1086G>A (p.Lys362=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2963046	NM_000243.3(MEFV):c.1356+14T>A	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2958282	NM_000243.3(MEFV):c.1719C>T (p.Tyr573=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2956147	NM_000243.3(MEFV):c.277+16C>T	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2955530	NM_000243.3(MEFV):c.696C>T (p.Tyr232=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2955445	NM_000243.3(MEFV):c.910+16T>C	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2917050	NM_000243.3(MEFV):c.1004C>A (p.Pro335His)	MEFV (P335H +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever	GUncertain significance
Select item 2917027	NM_000243.3(MEFV):c.1793-14A>C	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2916482	NM_000243.3(MEFV):c.597C>T (p.Ala199=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2915427	NM_000243.3(MEFV):c.1588-19T>G	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2907977	NM_000243.3(MEFV):c.1792+20C>G	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2906458	NM_000243.3(MEFV):c.1610+16G>C	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2905381	NM_000243.3(MEFV):c.1824C>T (p.Tyr608=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2904919	NM_000243.3(MEFV):c.1357-4C>T	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2903632	NM_000243.3(MEFV):c.1827C>A (p.Pro609=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2900603	NM_000243.3(MEFV):c.1638G>A (p.Lys546=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2899623	NM_000243.3(MEFV):c.1792+15C>T	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2899222	NM_000243.3(MEFV):c.911-18dup	MEFV	Duplication (intron variant)	Familial Mediterranean fever	GBenign
Select item 2898609	NM_000243.3(MEFV):c.2068G>A (p.Val690Met)	LOC126862264, MEFV (V690M)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 2898120	NM_000243.3(MEFV):c.1357-13C>T	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2896649	NM_000243.3(MEFV):c.1759+7C>G	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2896181	NM_000243.3(MEFV):c.2250G>A (p.Gly750=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2892388	NM_000243.3(MEFV):c.1356+8C>T	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2889211	NM_000243.3(MEFV):c.1727-12C>G	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2888950	NM_000243.3(MEFV):c.693G>C (p.Val231=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2886866	NM_000243.3(MEFV):c.2268C>T (p.Phe756=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2883357	NM_000243.3(MEFV):c.2283T>C (p.Arg761=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2883169	NM_000243.3(MEFV):c.657C>G (p.Gly219=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2882958	NM_000243.3(MEFV):c.1230C>T (p.Arg410=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2881873	NM_000243.3(MEFV):c.834G>A (p.Arg278=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2881405	NM_000243.3(MEFV):c.1614T>C (p.Ala538=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2880855	NM_000243.3(MEFV):c.1335G>A (p.Glu445=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2876756	NM_000243.3(MEFV):c.910+18C>T	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2871131	NM_000243.3(MEFV):c.1221C>T (p.His407=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2868318	NM_000243.3(MEFV):c.1935T>A (p.Ser645=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2867737	NM_000243.3(MEFV):c.14dup (p.Pro5_Ser6insTer)	MEFV	Duplication (frameshift variant)	Familial Mediterranean fever	GUncertain significance
Select item 2866858	NM_000243.3(MEFV):c.1347G>A (p.Val449=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2866637	NM_000243.3(MEFV):c.1524G>A (p.Leu508=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2866610	NM_000243.3(MEFV):c.153G>T (p.Val51=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2865393	NM_000243.3(MEFV):c.669G>A (p.Gln223=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2863882	NM_000243.3(MEFV):c.1356+14T>C	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2863707	NM_000243.3(MEFV):c.210C>A (p.Thr70=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2861672	NM_000243.3(MEFV):c.2089A>C (p.Asn697His)	LOC126862264, MEFV (N697H)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever	GUncertain significance
Select item 2860030	NM_000243.3(MEFV):c.1947C>G (p.Leu649=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2859206	NM_000243.3(MEFV):c.1629C>G (p.Val543=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2858825	NM_000243.3(MEFV):c.582A>T (p.Leu194=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2856113	NM_000243.3(MEFV):c.126G>A (p.Arg42=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2855926	NM_000243.3(MEFV):c.519C>G (p.Gly173=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2854431	NM_000243.3(MEFV):c.117G>A (p.Arg39=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2846284	NM_000243.3(MEFV):c.1759+14T>A	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2842140	NM_000243.3(MEFV):c.1357-18C>T	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2837583	NM_000243.3(MEFV):c.211C>T (p.Leu71=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2837126	NM_000243.3(MEFV):c.910+13C>G	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2834706	NM_000243.3(MEFV):c.911-14C>T	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2830610	NM_000243.3(MEFV):c.549G>C (p.Pro183=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2828703	NM_000243.3(MEFV):c.1726+13G>A	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2827599	NM_000243.3(MEFV):c.1533G>C (p.Ala511=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2823149	NM_000243.3(MEFV):c.278-10G>T	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2821566	NM_000243.3(MEFV):c.954G>A (p.Gln318=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2819545	NM_000243.3(MEFV):c.1357-27_1357-18del	MEFV	Deletion (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2816677	NM_000243.3(MEFV):c.372C>A (p.Pro124=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2816050	NM_000243.3(MEFV):c.916C>G (p.Pro306Ala)	MEFV (P306A +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever	GUncertain significance
Select item 2814301	NM_000243.3(MEFV):c.1122G>A (p.Gln374=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2812813	NM_000243.3(MEFV):c.1041C>T (p.Ser347=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2810744	NM_000243.3(MEFV):c.1499C>T (p.Thr500Ile)	MEFV (T289I +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever	GUncertain significance
Select item 2810092	NM_000243.3(MEFV):c.1107C>T (p.Pro369=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2807385	NM_000243.3(MEFV):c.911-5C>A	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign
Select item 2806268	NM_000243.3(MEFV):c.1812A>G (p.Ala604=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2795371	NM_000243.3(MEFV):c.46C>T (p.Leu16=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2794773	NM_000243.3(MEFV):c.2130A>G (p.Leu710=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever	GLikely benign
Select item 2794181	NM_000243.3(MEFV):c.228C>T (p.Ala76=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2790262	NM_000243.3(MEFV):c.277+4A>C	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GUncertain significance
Select item 2786801	NM_000243.3(MEFV):c.1099C>T (p.Leu367=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever	GLikely benign
Select item 2780318	NM_000243.3(MEFV):c.1588-17C>G	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever	GLikely benign

<< First< Prev

Page of 10