ClinVar for MedGen (Select 1648352) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802696	NM_014003.4(DHX38):c.3056del (p.Lys1019fs)	DHX38, LOC126862391 (K1019fs)	Deletion (frameshift variant)	Retinitis pigmentosa 84	Gnot provided
Select item 1399641	NM_014003.4(DHX38):c.605A>G (p.His202Arg)	DHX38 (H202R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 84 +1 more	GUncertain significance
Select item 1170574	NM_014003.4(DHX38):c.1386+17C>T	DHX38	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1170141	NM_014003.4(DHX38):c.2380-20T>C	DHX38	Single nucleotide variant (intron variant)	Retinitis pigmentosa 84 +1 more	GBenign
Select item 1168651	NM_014003.4(DHX38):c.2316C>A (p.Ala772=)	DHX38	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GBenign
Select item 1167327	NM_014003.4(DHX38):c.1698G>A (p.Thr566=)	DHX38	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 84 +2 more	GBenign
Select item 1167326	NM_014003.4(DHX38):c.1308T>C (p.Ala436=)	DHX38	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 84 +2 more	GBenign
Select item 1167325	NM_014003.4(DHX38):c.418C>A (p.Arg140=)	DHX38	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 84 +2 more	GBenign
Select item 1167324	NM_014003.4(DHX38):c.147C>G (p.Leu49=)	DHX38	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GBenign
Select item 1167005	NM_014003.4(DHX38):c.2487+14T>C	DHX38	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1013901	NM_014003.4(DHX38):c.2065G>T (p.Ala689Ser)	DHX38 (A689S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 84 +1 more	GUncertain significance
Select item 1009284	NM_014003.4(DHX38):c.716A>G (p.Tyr239Cys)	DHX38 (Y239C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1001576	NM_014003.4(DHX38):c.3193G>C (p.Asp1065His)	DHX38, LOC126862391 (D1065H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 858580	NM_014003.4(DHX38):c.55G>A (p.Asp19Asn)	DHX38 (D19N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 842571	NM_014003.4(DHX38):c.2831G>A (p.Arg944Gln)	DHX38, LOC126862391 (R944Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 840809	NM_014003.4(DHX38):c.923C>T (p.Thr308Met)	DHX38 (T308M)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 592160	NM_014003.4(DHX38):c.971G>A (p.Arg324Gln)	DHX38 (R324Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 84	GLikely pathogenic
Select item 140595	NM_014003.4(DHX38):c.995G>A (p.Gly332Asp)	DHX38 (G332D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 84	GUncertain significance