ClinVar for MedGen (Select 1684772) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442045	NM_032656.4(DHX37):c.2221T>A (p.Leu741Met)	DHX37 (L741M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies	GUncertain significance
Select item 1679790	NM_032656.4(DHX37):c.1288A>T (p.Ile430Phe)	DHX37 (I430F)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies	GUncertain significance
Select item 1679789	NM_032656.4(DHX37):c.1706T>A (p.Leu569Gln)	DHX37 (L569Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies	GUncertain significance
Select item 1342471	NM_032656.4(DHX37):c.3217-1G>T	DHX37	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies	GLikely pathogenic
Select item 1255496	NM_032656.4(DHX37):c.288G>A (p.Met96Ile)	DHX37 (M96I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies +3 more	GBenign
Select item 1255495	NM_032656.4(DHX37):c.738+13G>A	DHX37	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies +2 more	GBenign
Select item 1255494	NM_032656.4(DHX37):c.1294-38T>C	DHX37	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies +1 more	GBenign
Select item 1255493	NM_032656.4(DHX37):c.2046-6A>G	DHX37	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies +2 more	GBenign
Select item 1255492	NM_032656.4(DHX37):c.2331A>G (p.Thr777=)	DHX37	Single nucleotide variant (synonymous variant)	46,XY sex reversal 11 +3 more	GBenign
Select item 1255491	NM_032656.4(DHX37):c.2578+17T>G	DHX37	Single nucleotide variant (intron variant)	46,XY sex reversal 11 +2 more	GBenign
Select item 1255490	NM_032656.4(DHX37):c.2579-7T>C	DHX37	Single nucleotide variant (intron variant)	46,XY sex reversal 11 +2 more	GBenign
Select item 1255489	NM_032656.4(DHX37):c.2598G>A (p.Glu866=)	DHX37	Single nucleotide variant (synonymous variant)	46,XY sex reversal 11 +2 more	GBenign
Select item 1255488	NM_032656.4(DHX37):c.2605A>G (p.Ser869Gly)	DHX37 (S869G)	Single nucleotide variant (missense variant)	46,XY sex reversal 11 +2 more	GBenign
Select item 1255487	NM_032656.4(DHX37):c.2695+12T>C	DHX37	Single nucleotide variant (intron variant)	46,XY sex reversal 11 +2 more	GBenign
Select item 1255486	NM_032656.4(DHX37):c.2696-26G>A	DHX37	Single nucleotide variant (intron variant)	46,XY sex reversal 11 +1 more	GBenign
Select item 1255485	NM_032656.4(DHX37):c.2869-38G>A	DHX37	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies +1 more	GBenign
Select item 1255484	NM_032656.4(DHX37):c.3195C>T (p.Ala1065=)	DHX37	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies +2 more	GBenign
Select item 1255483	NM_032656.4(DHX37):c.3242G>A (p.Arg1081Gln)	DHX37 (R1081Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies +2 more	GBenign
Select item 1251560	NM_032656.4(DHX37):c.2793A>G (p.Ala931=)	DHX37	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies +2 more	GBenign
Select item 1213794	NM_032656.4(DHX37):c.769G>A (p.Glu257Lys)	DHX37 (E257K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies	GUncertain significance
Select item 1030049	NM_032656.4(DHX37):c.985G>A (p.Val329Ile)	DHX37 (V329I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies +2 more	GConflicting classifications of pathogenicity
Select item 1030048	NM_032656.4(DHX37):c.3302G>A (p.Arg1101His)	DHX37 (R1101H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies +1 more	GUncertain significance
Select item 1030047	NM_032656.4(DHX37):c.2956G>A (p.Val986Met)	DHX37 (V986M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies +2 more	GUncertain significance
Select item 804277	NM_032656.4(DHX37):c.1399C>T (p.Leu467=)	DHX37	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies	GPathogenic
Select item 691928	NM_032656.4(DHX37):c.499_500inv (p.Glu167Ser)	DHX37	Inversion (missense variant)	46,XY sex reversal 11	GUncertain significance
Select item 691927	NM_032656.4(DHX37):c.278G>A (p.Arg93Gln)	DHX37 (R93Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 691926	NM_032656.4(DHX37):c.2191G>A (p.Val731Met)	DHX37 (V731M)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +4 more	GPathogenic/Likely pathogenic
Select item 402139	NM_032656.4(DHX37):c.1257C>A (p.Asn419Lys)	DHX37 (N419K)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402138	NM_032656.4(DHX37):c.1460G>A (p.Arg487His)	DHX37 (R487H)	Single nucleotide variant (missense variant)	46,XY sex reversal 11 +2 more	GConflicting classifications of pathogenicity

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Items: 29