ClinVar for MedGen (Select 814824) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068171	NM_001330078.2(NRXN1):c.4070C>G (p.Thr1357Ser)	NRXN1 (T1290S +13 more)	Single nucleotide variant (missense variant)	Chromosome 2p16.3 deletion syndrome	GUncertain significance
Select item 3024297	NM_001330078.2(NRXN1):c.314C>G (p.Ala105Gly)	NRXN1 (A105G)	Single nucleotide variant (missense variant)	Chromosome 2p16.3 deletion syndrome +1 more	GUncertain significance
Select item 1373921	NM_001330078.2(NRXN1):c.2509G>C (p.Gly837Arg)	NRXN1 (G815R +9 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2 +1 more	GUncertain significance
Select item 846621	NM_001330078.2(NRXN1):c.1783C>T (p.Arg595Cys)	NRXN1 (R587C +7 more)	Single nucleotide variant (missense variant)	Chromosome 2p16.3 deletion syndrome +1 more	GUncertain significance
Select item 673179	NM_001330078.2(NRXN1):c.3365-110075G>A	NRXN1	Single nucleotide variant (5 prime UTR variant +1 more)	Chromosome 2p16.3 deletion syndrome +2 more	GLikely benign
Select item 625988	NM_001330078.2(NRXN1):c.3365-109902C>T	NRXN1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 580023	NM_001330078.2(NRXN1):c.4247C>G (p.Pro1416Arg)	NRXN1 (P1456R +20 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2 +1 more	GUncertain significance
Select item 560057	Single allele	NRXN1	Deletion	Chromosome 2p16.3 deletion syndrome	GPathogenic
Select item 539885	NM_001330078.2(NRXN1):c.2625T>C (p.Asn875=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2 +1 more	GLikely benign
Select item 539879	NM_001330078.2(NRXN1):c.665_673dup (p.Glu222_Glu224dup)	NRXN1	Duplication (inframe_insertion)	Pitt-Hopkins-like syndrome 2 +3 more	GUncertain significance
Select item 515773	NM_001330078.2(NRXN1):c.3375A>G (p.Thr1125=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 503668	NM_001330078.2(NRXN1):c.600C>T (p.Gly200=)	NRXN1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 436039	NM_001330078.2(NRXN1):c.338C>T (p.Ala113Val)	NRXN1 (A113V)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2 +2 more	GUncertain significance
Select item 423467	NM_001330078.2(NRXN1):c.1784G>A (p.Arg595His)	NRXN1 (R635H +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 378301	NM_001330078.2(NRXN1):c.4176T>C (p.Asp1392=)	NRXN1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins-like syndrome 2 +4 more	GLikely benign
Select item 378297	NM_001330078.2(NRXN1):c.3365-109899A>G	NRXN1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 336550	NM_001330078.2(NRXN1):c.1546C>A (p.Leu516Ile)	NRXN1 (L556I +7 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2 +1 more	GUncertain significance
Select item 282592	NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11])	NRXN1	Microsatellite (inframe_insertion +1 more)	NRXN1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 206282	NM_001330078.2(NRXN1):c.4011G>C (p.Glu1337Asp)	NRXN1 (E1377D +13 more)	Single nucleotide variant (missense variant)	Chromosome 2p16.3 deletion syndrome +2 more	GConflicting classifications of pathogenicity
Select item 206276	NM_001330078.2(NRXN1):c.1978G>A (p.Ala660Thr)	NRXN1 (A700T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 206273	NM_001330078.2(NRXN1):c.4237G>A (p.Gly1413Ser)	NRXN1 (G1453S +20 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2 +3 more	GUncertain significance
Select item 206267	NM_001330078.2(NRXN1):c.3542A>G (p.His1181Arg)	NRXN1 (H1221R +10 more)	Single nucleotide variant (missense variant)	Chromosome 2p16.3 deletion syndrome +2 more	GUncertain significance
Select item 206265	NM_001330078.2(NRXN1):c.3407C>T (p.Thr1136Met)	NRXN1 (T1176M +10 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins-like syndrome 2 +1 more	GUncertain significance
Select item 206264	NM_001330078.2(NRXN1):c.3365-109939C>T	NRXN1 (S14L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 206250	NM_001330078.2(NRXN1):c.2597T>C (p.Ile866Thr)	NRXN1 (I906T +9 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 206245	NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr)	NRXN1 (H885Y +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 206242	NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn)	NRXN1 (S860N +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 206235	NM_001330078.2(NRXN1):c.262C>G (p.Arg88Gly)	NRXN1 (R88G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 206232	NM_001330078.2(NRXN1):c.2190G>T (p.Gln730His)	NRXN1 (Q770H +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 206227	NM_001330078.2(NRXN1):c.302C>G (p.Ala101Gly)	NRXN1 (A101G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 195130	NM_001330078.2(NRXN1):c.270G>T (p.Gln90His)	NRXN1 (Q90H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 167390	NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser)	NRXN1 (N190S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 138543	NM_001330078.2(NRXN1):c.4217-16A>C	NRXN1	Single nucleotide variant (intron variant)	Chromosome 2p16.3 deletion syndrome +2 more	GBenign/Likely benign
Select item 93599	NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser)	NRXN1 (P108S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 93592	NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met)	NRXN1 (L909M +9 more)	Single nucleotide variant (missense variant)	NRXN1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 93587	NM_001330078.2(NRXN1):c.1700T>G (p.Leu567Trp)	NRXN1 (L607W +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity

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Items: 36