ClinVar for MedGen (Select 1004009) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236631	NM_000797.4(DRD4):c.485T>G (p.Leu162Arg)	DRD4 (L162R)	Single nucleotide variant (missense variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 3065404	NM_000797.4(DRD4):c.759_806dup (p.Pro270_Arg271insGlnAspProCysGlyProAspCysAlaProProAlaProGlyLeuPro)	DRD4	Duplication (inframe_insertion)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 3065214	NM_000797.4(DRD4):c.155dup (p.Asn52fs)	DRD4 (N52fs)	Duplication (frameshift variant)	Hereditary attention deficit-hyperactivity disorder	GLikely pathogenic
Select item 2585465	NM_000797.4(DRD4):c.869_870insTGG (p.Gly291_Pro292insGly)	DRD4	Duplication (inframe_insertion)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 2585270	NM_000797.4(DRD4):c.52_62del (p.Pro18fs)	DRD4 (P18fs)	Deletion (frameshift variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 2507416	NM_000797.4(DRD4):c.850A>G (p.Ser284Gly)	DRD4 (S284G)	Single nucleotide variant (missense variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 2507415	NM_000797.4(DRD4):c.816T>C (p.Gly272=)	DRD4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2507414	NM_000797.4(DRD4):c.815G>A (p.Gly272Asp)	DRD4 (G272D)	Single nucleotide variant (missense variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 2507413	NM_000797.4(DRD4):c.812G>A (p.Arg271Gln)	DRD4 (R271Q)	Single nucleotide variant (missense variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 2507412	NM_000797.4(DRD4):c.807T>C (p.Leu269=)	DRD4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2507407	NM_000798.5(DRD5):c.978C>T (p.Pro326=)	DRD5, SLC2A9	Single nucleotide variant (synonymous variant)	Schizophrenia +1 more	GUncertain significance
Select item 2507406	NM_000797.4(DRD4):c.1058-32G>C	DRD4	Single nucleotide variant (intron variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 2507405	NM_000797.4(DRD4):c.933T>G (p.Ala311=)	DRD4	Single nucleotide variant (synonymous variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 2507404	NM_000797.4(DRD4):c.-11C>T	DRD4	Single nucleotide variant (5 prime UTR variant)	Hereditary attention deficit-hyperactivity disorder	GUncertain significance
Select item 2346772	NM_000797.4(DRD4):c.925A>G (p.Asn309Asp)	DRD4 (N309D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2346771	NM_000797.4(DRD4):c.922T>C (p.Ser308Pro)	DRD4 (S308P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1287057	NM_000798.5(DRD5):c.*47T>C	DRD5, SLC2A9	Single nucleotide variant (3 prime UTR variant)	Hereditary attention deficit-hyperactivity disorder +1 more	GConflicting classifications of pathogenicity
Select item 1206183	NM_000797.4(DRD4):c.860A>C (p.Gln287Pro)	DRD4 (Q287P)	Single nucleotide variant (missense variant)	Hereditary attention deficit-hyperactivity disorder +1 more	GConflicting classifications of pathogenicity