ClinVar for MedGen (Select 322993) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 358

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023482	NM_031372.4(HNRNPDL):c.15C>G (p.Pro5=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 3022061	NM_031372.4(HNRNPDL):c.1192+18A>T	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 3021354	NM_031372.4(HNRNPDL):c.131C>T (p.Ser44Leu)	HNRNPDL (S44L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 3020439	NM_031372.4(HNRNPDL):c.46C>T (p.Pro16Ser)	HNRNPDL (P16S)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 3010943	NM_031372.4(HNRNPDL):c.1182A>G (p.Ala394=)	HNRNPDL	Single nucleotide variant (non-coding transcript variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 3010082	NM_031372.4(HNRNPDL):c.304G>C (p.Ala102Pro)	HNRNPDL (A102P)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3004993	NM_031372.4(HNRNPDL):c.612+19A>G	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 3004955	NM_031372.4(HNRNPDL):c.899C>T (p.Ser300Phe)	HNRNPDL (S300F)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 3003637	NM_031372.4(HNRNPDL):c.243G>C (p.Arg81=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 3000405	NM_031372.4(HNRNPDL):c.995G>A (p.Arg332Gln)	HNRNPDL (R332Q)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2997902	NM_031372.4(HNRNPDL):c.1130A>G (p.Tyr377Cys)	HNRNPDL (Y377C)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2997682	NM_031372.4(HNRNPDL):c.30G>A (p.Val10=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2997111	NM_031372.4(HNRNPDL):c.443+20C>A	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2991756	NM_031372.4(HNRNPDL):c.90G>C (p.Trp30Cys)	HNRNPDL (W30C)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2990277	NM_031372.4(HNRNPDL):c.984A>C (p.Ala328=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2989438	NM_031372.4(HNRNPDL):c.443+14C>G	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2988639	NM_031372.4(HNRNPDL):c.31C>A (p.Pro11Thr)	HNRNPDL (P11T)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2987874	NM_031372.4(HNRNPDL):c.789A>C (p.Glu263Asp)	HNRNPDL (E263D)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2984802	NM_031372.4(HNRNPDL):c.192G>A (p.Gln64=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2972678	NM_031372.4(HNRNPDL):c.960A>G (p.Gln320=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2967896	NM_031372.4(HNRNPDL):c.1022-17A>G	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2920258	NM_031372.4(HNRNPDL):c.247C>T (p.Pro83Ser)	HNRNPDL (P83S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2914956	NM_031372.4(HNRNPDL):c.1239C>T (p.His413=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2912635	NM_031372.4(HNRNPDL):c.443+9C>G	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2910940	NM_031372.4(HNRNPDL):c.262C>T (p.Arg88Cys)	HNRNPDL (R88C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2910879	NM_031372.4(HNRNPDL):c.1198C>G (p.Gln400Glu)	HNRNPDL (Q343E +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2905862	NM_031372.4(HNRNPDL):c.1260C>T (p.Tyr420=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2900157	NM_031372.4(HNRNPDL):c.338C>G (p.Pro113Arg)	HNRNPDL (P113R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2898755	NM_031372.4(HNRNPDL):c.55C>T (p.Pro19Ser)	HNRNPDL (P19S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2897620	NM_031372.4(HNRNPDL):c.727G>A (p.Asp243Asn)	HNRNPDL (D243N)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2894056	NM_031372.4(HNRNPDL):c.852A>G (p.Glu284=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2888721	NM_031372.4(HNRNPDL):c.924A>G (p.Ala308=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2886703	NM_031372.4(HNRNPDL):c.315C>T (p.Thr105=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2885795	NM_031372.4(HNRNPDL):c.336C>G (p.Pro112=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2885050	NM_031372.4(HNRNPDL):c.36G>C (p.Pro12=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2874505	NM_031372.4(HNRNPDL):c.1094A>G (p.Tyr365Cys)	HNRNPDL (Y365C)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2868918	NM_031372.4(HNRNPDL):c.8T>C (p.Val3Ala)	HNRNPDL (V3A)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2867831	NM_031372.4(HNRNPDL):c.221C>G (p.Ala74Gly)	HNRNPDL (A74G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2863157	NM_031372.4(HNRNPDL):c.156G>C (p.Gln52His)	HNRNPDL (Q52H)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2844258	NM_031372.4(HNRNPDL):c.852_854del (p.Glu285del)	HNRNPDL (E285del)	Deletion (inframe_deletion +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2831459	NM_031372.4(HNRNPDL):c.907-17A>G	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2825516	NM_031372.4(HNRNPDL):c.937_938del (p.Val313fs)	HNRNPDL (V313fs)	Deletion (frameshift variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2825256	NM_031372.4(HNRNPDL):c.855G>A (p.Glu285=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2818005	NM_031372.4(HNRNPDL):c.347G>C (p.Ser116Thr)	HNRNPDL (S116T)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2817619	NM_031372.4(HNRNPDL):c.325C>G (p.Arg109Gly)	HNRNPDL (R109G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2807559	NM_031372.4(HNRNPDL):c.297C>G (p.Ala99=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2794201	NM_031372.4(HNRNPDL):c.12G>A (p.Pro4=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2783093	NM_031372.4(HNRNPDL):c.123C>G (p.Leu41=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2782270	NM_031372.4(HNRNPDL):c.280T>C (p.Ser94Pro)	HNRNPDL (S94P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2779814	NM_031372.4(HNRNPDL):c.405A>G (p.Gly135=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2768728	NM_031372.4(HNRNPDL):c.231A>T (p.Gly77=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2766185	NM_031372.4(HNRNPDL):c.450G>A (p.Met150Ile)	HNRNPDL (M150I)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2763255	NM_031372.4(HNRNPDL):c.101_109dup (p.Arg36_Gln37insProProArg)	HNRNPDL	Duplication (inframe_insertion +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2760814	NM_031372.4(HNRNPDL):c.628G>A (p.Glu210Lys)	HNRNPDL (E210K)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2760721	NM_031372.4(HNRNPDL):c.733T>C (p.Ser245Pro)	HNRNPDL (S245P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2759917	NM_031372.4(HNRNPDL):c.923C>T (p.Ala308Val)	HNRNPDL (A308V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2759255	NM_031372.4(HNRNPDL):c.248C>G (p.Pro83Arg)	HNRNPDL (P83R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2755415	NM_031372.4(HNRNPDL):c.169G>T (p.Ala57Ser)	HNRNPDL (A57S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2747877	NM_031372.4(HNRNPDL):c.535A>G (p.Ile179Val)	HNRNPDL (I179V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2745576	NM_031372.4(HNRNPDL):c.236G>C (p.Arg79Pro)	HNRNPDL (R79P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2742414	NM_031372.4(HNRNPDL):c.167_178dup (p.Arg59_His60insArgAlaGlnArg)	HNRNPDL	Duplication (inframe_insertion +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2733192	NM_031372.4(HNRNPDL):c.978T>G (p.Gly326=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2732055	NM_031372.4(HNRNPDL):c.258C>T (p.Phe86=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2727353	NM_031372.4(HNRNPDL):c.245G>C (p.Arg82Pro)	HNRNPDL (R82P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2725136	NM_031372.4(HNRNPDL):c.791T>C (p.Leu264Pro)	HNRNPDL (L264P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2723163	NM_031372.4(HNRNPDL):c.297C>T (p.Ala99=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2720800	NM_031372.4(HNRNPDL):c.1251C>T (p.Tyr417=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2716252	NM_031372.4(HNRNPDL):c.337C>G (p.Pro113Ala)	HNRNPDL (P113A)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2713441	NM_031372.4(HNRNPDL):c.279C>T (p.Ser93=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2704886	NM_031372.4(HNRNPDL):c.907T>G (p.Cys303Gly)	HNRNPDL (C303G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2699623	NM_031372.4(HNRNPDL):c.501C>T (p.Tyr167=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2689219	NM_031372.4(HNRNPDL):c.209C>T (p.Ala70Val)	HNRNPDL (A70V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2637612	NM_031372.4(HNRNPDL):c.166C>T (p.Arg56Trp)	HNRNPDL (R56W)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2432511	NM_031372.4(HNRNPDL):c.316C>G (p.Arg106Gly)	HNRNPDL (R106G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2432510	NM_031372.4(HNRNPDL):c.266_300del (p.His89fs)	HNRNPDL (H89fs)	Deletion (frameshift variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2432509	NM_031372.4(HNRNPDL):c.101C>G (p.Pro34Arg)	HNRNPDL (P34R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2432508	NM_031372.4(HNRNPDL):c.248C>A (p.Pro83Gln)	HNRNPDL (P83Q)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2432507	NM_031372.4(HNRNPDL):c.88T>G (p.Trp30Gly)	HNRNPDL (W30G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2432506	NM_031372.4(HNRNPDL):c.110_113delinsCGCC (p.Gln37_Leu38delinsProPro)	HNRNPDL	Indel (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G +1 more	GUncertain significance
Select item 2428358	NM_031372.4(HNRNPDL):c.710T>G (p.Val237Gly)	HNRNPDL (V237G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2426968	NC_000004.11:g.(?_83347212)_(83350843_?)del	HNRNPDL	Deletion	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2426784	NM_031372.4(HNRNPDL):c.318G>C (p.Arg106=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2420354	NM_031372.4(HNRNPDL):c.443+17C>T	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2420184	NM_031372.4(HNRNPDL):c.119C>T (p.Pro40Leu)	HNRNPDL (P40L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2415614	NM_031372.4(HNRNPDL):c.270T>G (p.Phe90Leu)	HNRNPDL (F90L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2414889	NM_031372.4(HNRNPDL):c.985G>C (p.Ala329Pro)	HNRNPDL (A329P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2328776	NM_031372.4(HNRNPDL):c.307G>C (p.Ala103Pro)	HNRNPDL (A103P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G +1 more	GUncertain significance
Select item 2303746	NM_031372.4(HNRNPDL):c.1085A>G (p.Asn362Ser)	HNRNPDL (N362S)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G +1 more	GUncertain significance
Select item 2203664	NM_031372.4(HNRNPDL):c.338C>T (p.Pro113Leu)	HNRNPDL (P113L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2200976	NM_031372.4(HNRNPDL):c.441C>T (p.Asp147=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2200434	NM_031372.4(HNRNPDL):c.105G>A (p.Pro35=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2195007	NM_031372.4(HNRNPDL):c.117C>T (p.Ala39=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2194161	NM_031372.4(HNRNPDL):c.287A>G (p.Gln96Arg)	HNRNPDL (Q96R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2191984	NM_031372.4(HNRNPDL):c.906+19T>C	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2187078	NM_031372.4(HNRNPDL):c.178C>G (p.His60Asp)	HNRNPDL (H60D)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2184016	NM_031372.4(HNRNPDL):c.153G>C (p.Arg51=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2176111	NM_031372.4(HNRNPDL):c.907-15G>A	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2173603	NM_031372.4(HNRNPDL):c.246C>A (p.Arg82=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2172750	NM_031372.4(HNRNPDL):c.83C>T (p.Ser28Phe)	HNRNPDL (S28F)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2170910	NM_031372.4(HNRNPDL):c.775-12T>C	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign

<< First< Prev

Page of 4