ClinVar for MedGen (Select 419874) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069154	NM_001130987.2(DYSF):c.3838_3841del (p.Arg1280fs)	DYSF (R1248fs +7 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3062053	NM_001130987.2(DYSF):c.5247_5248del (p.Arg1749fs)	DYSF (R1696fs +13 more)	Microsatellite (frameshift variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3023834	NM_001130987.2(DYSF):c.1635C>A (p.Gly545=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3022994	NM_001130987.2(DYSF):c.2616C>T (p.Val872=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3021827	NM_001130987.2(DYSF):c.3756+18C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3021650	NM_003494.4(DYSF):c.88+20C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3020484	NM_001130987.2(DYSF):c.3859del (p.Glu1287fs)	DYSF (E1255fs +7 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3019729	NM_001130987.2(DYSF):c.239+14A>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3019643	NM_001130987.2(DYSF):c.3255G>A (p.Glu1085=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3019188	NM_001130987.2(DYSF):c.3201T>C (p.Asp1067=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3018862	NM_001130987.2(DYSF):c.2745G>T (p.Thr915=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3018753	NM_001130987.2(DYSF):c.3396G>T (p.Gly1132=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3018662	NM_001130987.2(DYSF):c.2520C>T (p.Asn840=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3018265	NM_001130987.2(DYSF):c.2697+17C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3018179	NM_001130987.2(DYSF):c.2823C>T (p.Gly941=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3017299	NM_001130987.2(DYSF):c.5958G>A (p.Leu1986=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3016502	NM_001130987.2(DYSF):c.2980-19T>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3016021	NM_001130987.2(DYSF):c.1974A>G (p.Ala658=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3014866	NM_001130987.2(DYSF):c.1131G>A (p.Gly377=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3014214	NM_001130987.2(DYSF):c.889-9A>G	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3014101	NM_001130987.2(DYSF):c.2864+11G>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3013423	NM_001130987.2(DYSF):c.2697+15_2697+17dup	DYSF	Duplication (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3013112	NM_001130987.2(DYSF):c.6114G>A (p.Glu2038=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3012972	NM_001130987.2(DYSF):c.952-6C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3012835	NM_001130987.2(DYSF):c.5991C>G (p.Ser1997=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3012800	NM_001130987.2(DYSF):c.3496+18G>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3012499	NM_001130987.2(DYSF):c.4060-12C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3011810	NM_001130987.2(DYSF):c.3927+10G>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3009993	NM_001130987.2(DYSF):c.5003+11G>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3009935	NM_001130987.2(DYSF):c.3342T>A (p.Arg1114=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3009659	NM_001130987.2(DYSF):c.6279C>T (p.Phe2093=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3008461	NM_001130987.2(DYSF):c.2781del (p.Lys928fs)	DYSF (K911fs +7 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3008193	NM_001130987.2(DYSF):c.3574+15G>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3007921	NM_001130987.2(DYSF):c.1536G>T (p.Leu512=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3007310	NM_001130987.2(DYSF):c.828C>A (p.Thr276=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3007023	NM_001130987.2(DYSF):c.2151G>A (p.Gln717=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3006274	NM_001130987.2(DYSF):c.6064-14C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3005453	NM_001130987.2(DYSF):c.5004-13G>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3005031	NM_001130987.2(DYSF):c.2481G>A (p.Val827=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3004967	NM_001130987.2(DYSF):c.1577-1630G>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3004556	NM_001130987.2(DYSF):c.239+15G>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3004500	NM_001130987.2(DYSF):c.1794C>T (p.Ile598=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3004417	NM_001130987.2(DYSF):c.797G>C (p.Gly266Ala)	DYSF (G234A +3 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin	GLikely pathogenic
Select item 3004012	NM_001130987.2(DYSF):c.4464+17C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3003472	NM_001130987.2(DYSF):c.6064-15T>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3003313	NM_001130987.2(DYSF):c.345+12T>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3003143	NM_001130987.2(DYSF):c.3591C>T (p.Val1197=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3003138	NM_001130987.2(DYSF):c.92-19C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3002872	NM_001130987.2(DYSF):c.1985-18C>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3002445	NM_001130987.2(DYSF):c.4060-18C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3001552	NM_001130987.2(DYSF):c.98del (p.Lys33fs)	DYSF (K33fs +1 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 3000825	NM_001130987.2(DYSF):c.239+17G>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 3000599	NM_001130987.2(DYSF):c.2697+16C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2998108	NM_001130987.2(DYSF):c.6321+9G>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2996524	NM_001130987.2(DYSF):c.1577-14C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2995140	NM_001130987.2(DYSF):c.1577-1633T>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2995015	NM_001130987.2(DYSF):c.889-16T>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2994176	NM_001130987.2(DYSF):c.1224G>T (p.Leu408=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2993846	NM_001130987.2(DYSF):c.5371C>T (p.Leu1791=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2993207	NM_001130987.2(DYSF):c.2865-9C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2990632	NM_001130987.2(DYSF):c.889-20T>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2989788	NM_001130987.2(DYSF):c.4388-15C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2989377	NM_001130987.2(DYSF):c.408C>G (p.Pro136=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2988938	NM_001130987.2(DYSF):c.5061T>C (p.Tyr1687=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2988565	NM_001130987.2(DYSF):c.760-12T>G	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2988336	NM_001130987.2(DYSF):c.5546+15C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2987402	NM_001130987.2(DYSF):c.1860C>A (p.Thr620=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2987353	NM_003494.4(DYSF):c.88+19C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2987279	NM_001130987.2(DYSF):c.889-13T>G	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2986730	NM_001130987.2(DYSF):c.1807-14C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2986252	NM_001130987.2(DYSF):c.5457+11G>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2985961	NM_001130987.2(DYSF):c.4388-16G>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2985141	NM_001130987.2(DYSF):c.5003+18G>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2983541	NM_001130987.2(DYSF):c.2109+12C>G	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2982184	NM_001130987.2(DYSF):c.888G>A (p.Glu296=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GUncertain significance
Select item 2982101	NM_001130987.2(DYSF):c.3085+11T>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2981919	NM_001130987.2(DYSF):c.2932C>T (p.Leu978Phe)	DYSF (L960F +7 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2980678	NM_001130987.2(DYSF):c.3621G>A (p.Val1207=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2980635	NM_001130987.2(DYSF):c.4725A>G (p.Thr1575=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2980609	NM_001130987.2(DYSF):c.2216+20C>G	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2980099	NM_001130987.2(DYSF):c.888+17A>G	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2979468	NM_001130987.2(DYSF):c.4152G>A (p.Val1384=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2979220	NM_001130987.2(DYSF):c.2565+20A>G	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2979144	NM_001130987.2(DYSF):c.1494-12C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2977265	NM_001130987.2(DYSF):c.2698-15T>G	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2976835	NM_001130987.2(DYSF):c.1146G>T (p.Ala382=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2974281	NM_001130987.2(DYSF):c.3575-17C>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2973765	NM_001130987.2(DYSF):c.4755+11G>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2973693	NM_001130987.2(DYSF):c.5885-12T>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2973532	NM_001130987.2(DYSF):c.819C>A (p.Val273=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2972725	NM_001130987.2(DYSF):c.5073C>T (p.Leu1691=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2972229	NM_001130987.2(DYSF):c.3496+12T>C	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2970873	NM_001130987.2(DYSF):c.4142dup (p.Gln1382fs)	DYSF (Q1365fs +7 more)	Duplication (frameshift variant)	Qualitative or quantitative defects of dysferlin	GPathogenic
Select item 2970846	NM_001130987.2(DYSF):c.1494-17C>G	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2970606	NM_001130987.2(DYSF):c.3496+20C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2970407	NM_001130987.2(DYSF):c.4689C>G (p.Thr1563=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2969989	NM_001130987.2(DYSF):c.3297C>G (p.Leu1099=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2967973	NM_001130987.2(DYSF):c.5317+10C>T	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2966758	NM_001130987.2(DYSF):c.2980-8G>A	DYSF	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of dysferlin	GLikely benign
Select item 2966196	NM_003494.4(DYSF):c.33C>T (p.Asn11=)	DYSF	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of dysferlin	GLikely benign

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