ClinVar for MedGen (Select 370102) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954379	NM_213599.3(ANO5):c.686A>G (p.Glu229Gly)	ANO5 (E214G +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 2954236	NM_213599.3(ANO5):c.1898+1del	ANO5	Deletion (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GLikely pathogenic
Select item 2953769	NM_213599.3(ANO5):c.2063C>T (p.Ala688Val)	ANO5 (A687V +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 2953314	NM_213599.3(ANO5):c.2138C>T (p.Thr713Ile)	ANO5 (T698I +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 2952574	NM_213599.3(ANO5):c.1181-1G>A	ANO5	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GLikely pathogenic
Select item 2952558	NM_213599.3(ANO5):c.984C>T (p.Gly328=)	ANO5	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GLikely benign
Select item 2952370	NM_213599.3(ANO5):c.1014-4G>A	ANO5	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GLikely benign
Select item 2951978	NM_213599.3(ANO5):c.2735C>T (p.Thr912Ile)	ANO5 (T912I +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 2951285	NM_213599.3(ANO5):c.295-6T>C	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2951250	NM_213599.3(ANO5):c.2377A>G (p.Thr793Ala)	ANO5 (T793A +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2951229	NM_213599.3(ANO5):c.88-8A>T	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2951195	NM_213599.3(ANO5):c.1649A>G (p.Gln550Arg)	ANO5 (Q536R +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2951192	NM_213599.3(ANO5):c.1050G>T (p.Met350Ile)	ANO5 (M335I +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2950130	NM_213599.3(ANO5):c.2173C>A (p.His725Asn)	ANO5 (H711N +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2949925	NM_213599.3(ANO5):c.2415-5T>G	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2949277	NM_213599.3(ANO5):c.742T>C (p.Ser248Pro)	ANO5 (S233P +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 2949222	NM_213599.3(ANO5):c.1311G>C (p.Arg437Ser)	ANO5 (R423S +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 2949166	NM_213599.3(ANO5):c.138+14_138+23del	ANO5	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GLikely benign
Select item 2949141	NM_213599.3(ANO5):c.393C>G (p.Val131=)	ANO5	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GLikely benign
Select item 2949070	NM_213599.3(ANO5):c.2030-17_2030-14dup	ANO5	Duplication (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GLikely benign
Select item 2948470	NM_213599.3(ANO5):c.2243T>G (p.Ile748Ser)	ANO5 (I734S +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 2948137	NM_213599.3(ANO5):c.1180G>A (p.Val394Ile)	ANO5 (V393I +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 2948089	NM_213599.3(ANO5):c.2229A>G (p.Ala743=)	ANO5	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GLikely benign
Select item 2947853	NM_213599.3(ANO5):c.1854G>A (p.Met618Ile)	ANO5 (M617I +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 2947507	NM_213599.3(ANO5):c.830G>T (p.Trp277Leu)	ANO5 (W263L +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2947378	NM_213599.3(ANO5):c.2010C>T (p.Phe670=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2947284	NM_213599.3(ANO5):c.114C>T (p.Ser38=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2947103	NM_213599.3(ANO5):c.1022T>C (p.Ile341Thr)	ANO5 (I326T +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2947083	NM_213599.3(ANO5):c.246del (p.Phe82fs)	ANO5 (F68fs +3 more)	Deletion (frameshift variant)	Gnathodiaphyseal dysplasia +1 more	GPathogenic
Select item 2946503	NM_213599.3(ANO5):c.2715A>C (p.Lys905Asn)	ANO5 (K890N +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2946388	NM_213599.3(ANO5):c.2237C>G (p.Ala746Gly)	ANO5 (A731G +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2945644	NM_213599.3(ANO5):c.123C>G (p.Ile41Met)	ANO5 (I41M +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2945594	NM_213599.3(ANO5):c.1899-7C>T	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2945362	NM_213599.3(ANO5):c.1734T>C (p.Phe578=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2944625	NM_213599.3(ANO5):c.2156C>G (p.Thr719Ser)	ANO5 (T705S +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2944212	NM_213599.3(ANO5):c.2742A>T (p.Ter914Tyr)	ANO5	Single nucleotide variant (stop lost)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2944062	NM_213599.3(ANO5):c.526C>T (p.Pro176Ser)	ANO5 (P161S +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2943615	NM_213599.3(ANO5):c.2369C>T (p.Pro790Leu)	ANO5 (P790L +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2943432	NM_213599.3(ANO5):c.11C>T (p.Pro4Leu)	ANO5 (P4L)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2943429	NM_213599.3(ANO5):c.2273_2280dup (p.Tyr761delinsValTer)	ANO5	Duplication (nonsense)	Gnathodiaphyseal dysplasia +1 more	GPathogenic
Select item 2943327	NM_213599.3(ANO5):c.1899-14A>C	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2942788	NM_213599.3(ANO5):c.841T>C (p.Ser281Pro)	ANO5 (S280P +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2942285	NM_213599.3(ANO5):c.1016C>T (p.Thr339Ile)	ANO5 (T325I +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2941882	NM_213599.3(ANO5):c.346_347delinsTT (p.Glu116Leu)	ANO5 (E102L +3 more)	Indel (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2941411	NM_213599.3(ANO5):c.1014-3C>T	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2941329	NM_213599.3(ANO5):c.1898+14_1898+21del	ANO5	Deletion (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2940983	NM_213599.3(ANO5):c.1711T>C (p.Ser571Pro)	ANO5 (S557P +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2940894	NM_213599.3(ANO5):c.1835C>T (p.Thr612Ile)	ANO5 (T612I +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2940834	NM_213599.3(ANO5):c.322C>T (p.Leu108Phe)	ANO5 (L107F +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2940669	NM_213599.3(ANO5):c.2236-8T>A	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2940440	NM_213599.3(ANO5):c.1612_1613delinsTT (p.Ala538Phe)	ANO5 (A523F +3 more)	Indel (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2940395	NM_213599.3(ANO5):c.878+1G>A	ANO5	Single nucleotide variant (splice donor variant)	Gnathodiaphyseal dysplasia +1 more	GLikely pathogenic
Select item 2939827	NM_213599.3(ANO5):c.1120T>C (p.Phe374Leu)	ANO5 (F359L +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2939508	NM_213599.3(ANO5):c.1275G>A (p.Gln425=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2939316	NM_213599.3(ANO5):c.1120-5T>C	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2939272	NM_213599.3(ANO5):c.2148C>T (p.Tyr716=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2939135	NM_213599.3(ANO5):c.1369C>G (p.Pro457Ala)	ANO5 (P456A +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2938743	NM_213599.3(ANO5):c.932C>T (p.Thr311Ile)	ANO5 (T297I +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2938687	NM_213599.3(ANO5):c.2542T>C (p.Phe848Leu)	ANO5 (F834L +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2938677	NM_213599.3(ANO5):c.1417G>C (p.Val473Leu)	ANO5 (V458L +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2938565	NM_213599.3(ANO5):c.138+11A>G	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2937683	NM_213599.3(ANO5):c.312T>G (p.Phe104Leu)	ANO5 (F104L +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2937382	NM_213599.3(ANO5):c.1376A>G (p.Tyr459Cys)	ANO5 (Y445C +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2937256	NM_213599.3(ANO5):c.1595T>C (p.Phe532Ser)	ANO5 (F517S +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2937035	NM_213599.3(ANO5):c.528A>G (p.Pro176=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2936603	NM_213599.3(ANO5):c.405C>G (p.Ala135=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2936455	NM_213599.3(ANO5):c.40+20C>T	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2936129	NM_213599.3(ANO5):c.1181-17T>C	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2935940	NM_213599.3(ANO5):c.751C>A (p.Pro251Thr)	ANO5 (P236T +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2935934	NM_213599.3(ANO5):c.603C>T (p.Ile201=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2935816	NM_213599.3(ANO5):c.88-1G>A	ANO5	Single nucleotide variant (splice acceptor variant +1 more)	Gnathodiaphyseal dysplasia +1 more	GLikely pathogenic
Select item 2935674	NM_213599.3(ANO5):c.1630+7_1630+10del	ANO5	Deletion (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2935360	NM_213599.3(ANO5):c.259G>T (p.Val87Phe)	ANO5 (V72F +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2935222	NM_213599.3(ANO5):c.1119+9G>A	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2935168	NM_213599.3(ANO5):c.1179G>A (p.Trp393Ter)	ANO5 (W378* +3 more)	Single nucleotide variant (nonsense)	Gnathodiaphyseal dysplasia +1 more	GPathogenic
Select item 2935147	NM_213599.3(ANO5):c.2263A>G (p.Ile755Val)	ANO5 (I754V +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2934713	NM_213599.3(ANO5):c.40+8C>T	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2934682	NM_213599.3(ANO5):c.2433T>C (p.Tyr811=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2934679	NM_213599.3(ANO5):c.40+12C>T	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2934618	NM_213599.3(ANO5):c.2236-10T>A	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2934569	NM_213599.3(ANO5):c.1014-7C>A	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2934535	NM_213599.3(ANO5):c.1631-9A>T	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2934075	NM_213599.3(ANO5):c.1899-5A>G	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2933959	NM_213599.3(ANO5):c.2255C>T (p.Thr752Met)	ANO5 (T751M +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2933952	NM_213599.3(ANO5):c.1453C>T (p.Leu485=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2933794	NM_213599.3(ANO5):c.270A>G (p.Val90=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2933647	NM_213599.3(ANO5):c.2285A>G (p.Tyr762Cys)	ANO5 (Y762C +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2933109	NM_213599.3(ANO5):c.2740T>C (p.Ter914Gln)	ANO5	Single nucleotide variant (stop lost)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 2932608	NM_213599.3(ANO5):c.2231C>G (p.Thr744Ser)	ANO5 (T743S +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 2932423	NM_213599.3(ANO5):c.2524G>A (p.Val842Ile)	ANO5 (V841I +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 2931963	NM_213599.3(ANO5):c.2331G>C (p.Val777=)	ANO5	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GLikely benign
Select item 2931806	NM_213599.3(ANO5):c.2222C>T (p.Ser741Phe)	ANO5 (S726F +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 2931805	NM_213599.3(ANO5):c.226G>A (p.Gly76Arg)	ANO5 (G61R +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 2931097	NM_213599.3(ANO5):c.2362G>A (p.Asp788Asn)	ANO5 (D774N +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2930734	NM_213599.3(ANO5):c.213C>T (p.Ile71=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2930649	NM_213599.3(ANO5):c.1989T>C (p.Ser663=)	ANO5	Single nucleotide variant (synonymous variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2930579	NM_213599.3(ANO5):c.211A>G (p.Ile71Val)	ANO5 (I71V +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2930264	NM_213599.3(ANO5):c.2416T>G (p.Tyr806Asp)	ANO5 (Y791D +3 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 2930068	NM_213599.3(ANO5):c.1899-19C>T	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 2929973	NM_213599.3(ANO5):c.13G>A (p.Asp5Asn)	ANO5 (D5N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity

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