ClinVar for MedGen (Select 348778) - ClinVar

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

Links from MedGen

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1574364	NM_001044.5(SLC6A3):c.1767+13A>G	SLC6A3	Single nucleotide variant (intron variant)	Parkinsonism-dystonia, infantile +2 more	GBenign/Likely benign
Select item 1507933	NM_001044.5(SLC6A3):c.149C>T (p.Pro50Leu)	SLC6A3 (P50L)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile +2 more	GUncertain significance
Select item 1496079	NM_005458.8(GABBR2):c.121G>T (p.Gly41Cys)	GABBR2 (G41C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with poor language and loss of hand skills +3 more	GUncertain significance
Select item 1487245	NM_000744.7(CHRNA4):c.687C>G (p.Ile229Met)	CHRNA4 (I229M +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GUncertain significance
Select item 1408732	NM_001044.5(SLC6A3):c.580C>T (p.Pro194Ser)	SLC6A3 (P194S)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile +2 more	GUncertain significance
Select item 1303237	NM_000744.7(CHRNA4):c.448C>A (p.Gln150Lys)	CHRNA4 (Q150K)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1169560	NM_000744.7(CHRNA4):c.*534C>T	CHRNA4	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GBenign
Select item 1117070	NM_001044.5(SLC6A3):c.1677G>A (p.Ala559=)	SLC6A3	Single nucleotide variant (synonymous variant)	SLC6A3-related disorder +4 more	GLikely benign
Select item 1022175	NM_001044.5(SLC6A3):c.898G>A (p.Val300Ile)	SLC6A3 (V300I)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile +2 more	GUncertain significance
Select item 1015213	NM_005458.8(GABBR2):c.131G>A (p.Arg44Gln)	GABBR2 (R44Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 964522	NM_005458.8(GABBR2):c.2412+3A>G	GABBR2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 59 +3 more	GConflicting classifications of pathogenicity
Select item 854387	NM_000744.7(CHRNA4):c.13G>A (p.Gly5Ser)	CHRNA4, LOC100130587 (G5S)	Single nucleotide variant (missense variant +2 more)	Tobacco addiction, susceptibility to +2 more	GConflicting classifications of pathogenicity
Select item 851586	NM_001044.5(SLC6A3):c.1603G>A (p.Val535Met)	SLC6A3 (V535M)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile +2 more	GUncertain significance
Select item 736615	NM_000744.7(CHRNA4):c.987C>T (p.Asn329=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GLikely benign
Select item 696815	NM_001044.5(SLC6A3):c.1143C>T (p.Asp381=)	SLC6A3	Single nucleotide variant (synonymous variant)	Tobacco addiction, susceptibility to +3 more	GLikely benign
Select item 695871	NM_001044.5(SLC6A3):c.1470C>T (p.Ile490=)	SLC6A3	Single nucleotide variant (synonymous variant)	Tobacco addiction, susceptibility to +2 more	GBenign/Likely benign
Select item 538067	NM_001044.5(SLC6A3):c.70G>A (p.Val24Met)	SLC6A3 (V24M)	Single nucleotide variant (missense variant)	Parkinsonism-dystonia, infantile +2 more	GUncertain significance
Select item 538065	NM_001044.5(SLC6A3):c.1155C>T (p.Asp385=)	SLC6A3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 510852	NM_000744.7(CHRNA4):c.138C>T (p.Ser46=)	CHRNA4	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 470641	NM_001044.5(SLC6A3):c.60G>A (p.Glu20=)	SLC6A3	Single nucleotide variant (synonymous variant)	Parkinsonism-dystonia, infantile +2 more	GBenign/Likely benign
Select item 452325	NM_000744.7(CHRNA4):c.1667C>G (p.Pro556Arg)	CHRNA4 (P556R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +3 more	GConflicting classifications of pathogenicity
Select item 420395	NM_000744.7(CHRNA4):c.1792A>G (p.Ile598Val)	CHRNA4 (I598V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy 1 +2 more	GUncertain significance
Select item 416915	NM_000744.7(CHRNA4):c.492C>T (p.Asp164=)	CHRNA4	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 377082	NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe)	SLC6A3 (L167F)	Single nucleotide variant (missense variant)	SLC6A3-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 205046	NM_000744.7(CHRNA4):c.358C>T (p.Arg120Trp)	CHRNA4, LOC126863087 (R120W)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +3 more	GConflicting classifications of pathogenicity
Select item 205043	NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln)	CHRNA4, LOC126863087 (E92Q)	Single nucleotide variant (missense variant +2 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 205031	NM_000744.7(CHRNA4):c.1448G>A (p.Arg483Gln)	CHRNA4 (R483Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy 1 +4 more	GConflicting classifications of pathogenicity
Select item 205030	NM_000744.7(CHRNA4):c.1430C>T (p.Ala477Val)	CHRNA4 (A477V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 205026	NM_000744.7(CHRNA4):c.1316A>C (p.Lys439Thr)	CHRNA4 (K439T +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 136768	NM_000744.7(CHRNA4):c.76+18G>T	CHRNA4, LOC100130587	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 136767	NM_000744.7(CHRNA4):c.9A>G (p.Leu3=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +5 more	GBenign/Likely benign
Select item 98337	NM_000744.7(CHRNA4):c.799C>T (p.Leu267=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy 1 +1 more	GUncertain significance
Select item 98318	NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln)	CHRNA4 (R487Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 93426	NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 3332	NM_005458.8(GABBR2):c.[1662+5118G>A;1893+21406C>T360=631-18885=]	GABBR2	Single nucleotide variant (intron variant +1 more)	Tobacco addiction, susceptibility to	Grisk factor
Select item 3331	CCG haplotype	GABBR2	Single nucleotide variant (synonymous variant +1 more)	Tobacco addiction, susceptibility to	Grisk factor

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 36