"NRXN1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138547	NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=)	NRXN1	Single nucleotide variant (synonymous variant)	NRXN1-related disorder +4 more	GBenign/Likely benign
Select item 2630624	NM_001330078.2(NRXN1):c.4372C>T (p.Arg1458Trp)	NRXN1 (R1428W +20 more)	Single nucleotide variant (missense variant)	NRXN1-related disorder	GUncertain significance
Select item 378301	NM_001330078.2(NRXN1):c.4176T>C (p.Asp1392=)	NRXN1	Single nucleotide variant (synonymous variant)	NRXN1-related disorder +4 more	GLikely benign
Select item 129823	NM_001330078.2(NRXN1):c.4068G>A (p.Thr1356=)	NRXN1	Single nucleotide variant (synonymous variant)	History of neurodevelopmental disorder +3 more	GBenign
Select item 436033	NM_001330078.2(NRXN1):c.3675G>A (p.Thr1225=)	NRXN1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1734240	NM_001330078.2(NRXN1):c.3596C>T (p.Ala1199Val)	NRXN1 (A1182V +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1202202	NM_001330078.2(NRXN1):c.3365-109721G>T	NRXN1 (A87S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 138561	NM_001330078.2(NRXN1):c.3365-109830G>A	NRXN1	Single nucleotide variant (synonymous variant +1 more)	NRXN1-related disorder +2 more	GBenign/Likely benign
Select item 2628629	NM_001330078.2(NRXN1):c.3365-109893dup	NRXN1 (R30fs)	Duplication (frameshift variant +1 more)	NRXN1-related disorder	GUncertain significance
Select item 1180179	NM_001330078.2(NRXN1):c.3365-109930GCG[6]	NRXN1	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GBenign/Likely benign
Select item 287918	NM_138735.4(NRXN1):c.49[5] (p.Gly17[5])	NRXN1	Microsatellite (inframe_deletion +1 more)	not specified +3 more	GBenign
Select item 281242	NM_138735.4(NRXN1):c.49GGC[7] (p.Gly17[7])	NRXN1	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 282592	NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11])	NRXN1	Microsatellite (inframe_insertion +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1327785	NM_001330078.2(NRXN1):c.3365-109977G>T	NRXN1 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1650418	NM_001330078.2(NRXN1):c.3228C>T (p.Ile1076=)	NRXN1	Single nucleotide variant (synonymous variant)	NRXN1-related disorder +1 more	GLikely benign
Select item 853285	NM_001330078.2(NRXN1):c.3189G>A (p.Pro1063=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1090935	NM_001330078.2(NRXN1):c.3070+9A>G	NRXN1	Single nucleotide variant (intron variant)	NRXN1-related disorder +1 more	GLikely benign
Select item 93597	NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=)	NRXN1	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 3047034	NM_001330078.2(NRXN1):c.3000C>T (p.Leu1000=)	NRXN1	Single nucleotide variant (synonymous variant)	NRXN1-related disorder	GLikely benign
Select item 93592	NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met)	NRXN1 (L909M +9 more)	Single nucleotide variant (missense variant)	NRXN1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 539874	NM_001330078.2(NRXN1):c.2437C>T (p.Arg813Cys)	NRXN1 (R853C +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2195319	NM_001330078.2(NRXN1):c.2197G>A (p.Val733Ile)	NRXN1 (V732I +7 more)	Single nucleotide variant (missense variant)	NRXN1-related disorder +1 more	GUncertain significance
Select item 378291	NM_001330078.2(NRXN1):c.2196C>T (p.Pro732=)	NRXN1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 167387	NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val)	NRXN1 (I689V +7 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 516410	NM_001330078.2(NRXN1):c.1779G>A (p.Thr593=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2 +3 more	GLikely benign
Select item 193622	NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr)	NRXN1 (I603T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 138549	NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=)	NRXN1	Single nucleotide variant (synonymous variant)	NRXN1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 93585	NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser)	NRXN1 (P469S +7 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 129818	NM_001330078.2(NRXN1):c.1158+26A>T	NRXN1	Single nucleotide variant (intron variant)	Pitt-Hopkins-like syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 962909	NM_001330078.2(NRXN1):c.1158+21G>A	NRXN1	Single nucleotide variant (synonymous variant +1 more)	Pitt-Hopkins-like syndrome 2 +1 more	GUncertain significance
Select item 386759	NM_001330078.2(NRXN1):c.1050C>G (p.Ala350=)	NRXN1	Single nucleotide variant (synonymous variant)	NRXN1-related disorder +3 more	GLikely benign
Select item 384075	NM_001330078.2(NRXN1):c.864A>G (p.Gly288=)	NRXN1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 3053606	NM_001330078.2(NRXN1):c.832+2687C>T	NRXN1	Single nucleotide variant (3 prime UTR variant +1 more)	NRXN1-related disorder	GBenign
Select item 3051322	NM_001330078.2(NRXN1):c.832+2683A>G	NRXN1	Single nucleotide variant (3 prime UTR variant +1 more)	NRXN1-related disorder	GLikely benign
Select item 3042197	NM_001330078.2(NRXN1):c.832+1873C>T	NRXN1	Single nucleotide variant (3 prime UTR variant +1 more)	NRXN1-related disorder	GBenign
Select item 3051899	NM_001330078.2(NRXN1):c.820+50G>A	NRXN1	Single nucleotide variant (synonymous variant +1 more)	NRXN1-related disorder	GLikely benign
Select item 3054421	NM_001330078.2(NRXN1):c.820+35G>C	NRXN1 (Q279H)	Single nucleotide variant (missense variant +1 more)	NRXN1-related disorder	GLikely benign
Select item 138542	NM_001330078.2(NRXN1):c.798G>A (p.Ala266=)	NRXN1	Single nucleotide variant (synonymous variant +1 more)	NRXN1-related disorder +2 more	GBenign/Likely benign
Select item 336552	NM_001330078.2(NRXN1):c.772+1032G>A	NRXN1	Single nucleotide variant (intron variant +1 more)	NRXN1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 211694	NM_001330078.2(NRXN1):c.772+9del	NRXN1	Deletion (intron variant)	Pitt-Hopkins-like syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 516409	NM_001330078.2(NRXN1):c.702C>T (p.Cys234=)	NRXN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 452464	NM_001330078.2(NRXN1):c.656_664del (p.Ala219_Glu221del)	NRXN1	Deletion (inframe_deletion)	Pitt-Hopkins-like syndrome 2 +2 more	GUncertain significance
Select item 669054	NM_001330078.2(NRXN1):c.576G>A (p.Ser192=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2 +2 more	GLikely benign
Select item 138556	NM_001330078.2(NRXN1):c.498G>A (p.Ala166=)	NRXN1	Single nucleotide variant (synonymous variant)	NRXN1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 336555	NM_001330078.2(NRXN1):c.492C>T (p.Ala164=)	NRXN1	Single nucleotide variant (synonymous variant)	NRXN1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3058639	NM_001330078.2(NRXN1):c.414G>C (p.Val138=)	NRXN1	Single nucleotide variant (synonymous variant)	NRXN1-related disorder	GLikely benign
Select item 2630848	NM_001330078.2(NRXN1):c.411G>T (p.Trp137Cys)	NRXN1 (W137C)	Single nucleotide variant (missense variant)	NRXN1-related disorder	GUncertain significance
Select item 1986613	NM_001330078.2(NRXN1):c.378C>G (p.Thr126=)	NRXN1	Single nucleotide variant (synonymous variant)	NRXN1-related disorder +1 more	GLikely benign
Select item 2166584	NM_001330078.2(NRXN1):c.363C>T (p.Arg121=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2 +1 more	GLikely benign
Select item 378283	NM_001330078.2(NRXN1):c.324G>A (p.Pro108=)	NRXN1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 93599	NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser)	NRXN1 (P108S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3030553	NM_001330078.2(NRXN1):c.-31G>C	NRXN1	Single nucleotide variant (5 prime UTR variant)	NRXN1-related disorder	GLikely benign

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Items: 52