C1836765[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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

Search results

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144074	NM_031372.4(HNRNPDL):c.1132G>C (p.Asp378His)	HNRNPDL (D378H)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 144073	NM_031372.4(HNRNPDL):c.1132G>A (p.Asp378Asn)	HNRNPDL (D378N)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GConflicting classifications of pathogenicity
Select item 704526	NM_031372.4(HNRNPDL):c.1097G>C (p.Gly366Ala)	HNRNPDL (G366A)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GConflicting classifications of pathogenicity
Select item 1462318	NM_031372.4(HNRNPDL):c.814_815delinsAT (p.Glu272Ile)	HNRNPDL (E272I)	Indel (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 1063649	NM_031372.4(HNRNPDL):c.397G>A (p.Ala133Thr)	HNRNPDL (A133T)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G +1 more	GUncertain significance
Select item 938978	NM_031372.4(HNRNPDL):c.324_341del (p.Arg109_Ala114del)	HNRNPDL	Deletion (inframe_deletion +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GConflicting classifications of pathogenicity
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 464386	NM_031372.4(HNRNPDL):c.314C>T (p.Thr105Ile)	HNRNPDL (T105I)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GConflicting classifications of pathogenicity
Select item 643492	NM_031372.4(HNRNPDL):c.294CGC[4] (p.Ala104dup)	HNRNPDL	Microsatellite (inframe_insertion +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 1016195	NM_031372.4(HNRNPDL):c.274T>C (p.Ser92Pro)	HNRNPDL (S92P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GConflicting classifications of pathogenicity
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 660483	NM_031372.4(HNRNPDL):c.245G>T (p.Arg82Leu)	HNRNPDL (R82L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GConflicting classifications of pathogenicity
Select item 2162287	NM_031372.4(HNRNPDL):c.244C>T (p.Arg82Cys)	HNRNPDL (R82C)	Single nucleotide variant (missense 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 464384	NM_031372.4(HNRNPDL):c.169G>A (p.Ala57Thr)	HNRNPDL (A57T)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 999866	NM_031372.4(HNRNPDL):c.128C>T (p.Pro43Leu)	HNRNPDL (P43L)	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	GUncertain significance
Select item 464379	NM_031372.4(HNRNPDL):c.113T>C (p.Leu38Pro)	HNRNPDL (L38P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G +1 more	GConflicting classifications of pathogenicity
Select item 464378	NM_031372.4(HNRNPDL):c.110A>C (p.Gln37Pro)	HNRNPDL (Q37P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G +1 more	GConflicting classifications of pathogenicity
Select item 572964	NM_031372.4(HNRNPDL):c.101_109del (p.Pro34_Arg36del)	HNRNPDL	Deletion (inframe_deletion +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 1026627	NM_031372.4(HNRNPDL):c.92GGCCGC[3] (p.31RP[3])	HNRNPDL	Microsatellite (inframe_insertion +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GConflicting classifications of pathogenicity
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 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 661559	NM_031372.4(HNRNPDL):c.47C>T (p.Pro16Leu)	HNRNPDL (P16L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 854889	NM_031372.4(HNRNPDL):c.42G>C (p.Leu14Phe)	HNRNPDL (L14F)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 26