CN169374[trait identifier] AND "Molecular Diagnostics Lab, Nemours Chi - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5370	NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)	NPHS2 (R229Q)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 445910	NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)	GJC2 (H412Y)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 40660	NM_005633.4(SOS1):c.749T>C (p.Val250Ala)	SOS1 (V250A +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 410357	NM_000388.4(CASR):c.416T>C (p.Ile139Thr)	CASR (I139T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 410349	NM_000388.4(CASR):c.513C>A (p.Ser171Arg)	CASR (S171R)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +3 more	GUncertain significance
Select item 448428	NM_000344.4(SMN1):c.419A>T (p.Asp140Val)	SMN1 (D140V)	Single nucleotide variant (missense variant)	Spinal muscular atrophy +2 more	GConflicting classifications of pathogenicity
Select item 448431	NM_000344.4(SMN1):c.818A>T (p.His273Leu)	SMN1 (H273L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 495829	NM_000344.4(SMN1):c.835-3C>T	SMN1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3336789	NM_032581.4(HYCC1):c.169T>C (p.Cys57Arg)	HYCC1 (C57R)	Single nucleotide variant (missense variant)	Hypomyelination and Congenital Cataract +1 more	GConflicting classifications of pathogenicity
Select item 229258	NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile)	SLC26A4 (M147I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GConflicting classifications of pathogenicity
Select item 43496	NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	SLC26A4 (R409H)	Single nucleotide variant (missense variant)	not specified +5 more	GPathogenic/Likely pathogenic
Select item 229254	NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn)	SLC26A4 (D560N)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GConflicting classifications of pathogenicity
Select item 445922	NM_007055.4(POLR3A):c.1909+22G>A	POLR3A	Single nucleotide variant (intron variant)	Spastic ataxia +7 more	GPathogenic/Likely pathogenic
Select item 41241	NM_007055.4(POLR3A):c.1674C>G (p.Phe558Leu)	POLR3A (F558L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 433161	NM_002180.3(IGHMBP2):c.1121T>C (p.Ile374Thr)	IGHMBP2 (I374T)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +2 more	GConflicting classifications of pathogenicity
Select item 433162	NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu)	IGHMBP2 (S508L)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +2 more	GConflicting classifications of pathogenicity
Select item 1218905	NM_152722.5(HEPACAM):c.382G>A (p.Asp128Asn)	HEPACAM (D128N)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 31166	NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)	POLR3B (V523E +1 more)	Single nucleotide variant (missense variant)	See cases +8 more	GPathogenic/Likely pathogenic
Select item 224415	NM_002834.5(PTPN11):c.272A>G (p.Lys91Arg)	PTPN11 (K91R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 13326	NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	PTPN11 (N308D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 177887	NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu)	PTPN11 (P561L +2 more)	Single nucleotide variant (missense variant)	RASopathy +7 more	GConflicting classifications of pathogenicity
Select item 433158	NM_206937.2(LIG4):c.1345A>C (p.Lys449Gln)	LIG4 (K449Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2548	NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	MEFV	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +6 more	GConflicting classifications of pathogenicity
Select item 6081	NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del)	APOL1	Deletion (inframe_deletion)	not specified +3 more	GConflicting classifications of pathogenicity; risk factor
Select item 667130	NM_002473.6(MYH9):c.3246G>A (p.Glu1082=)	MYH9	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 393491	NM_001110792.2(MECP2):c.1216_1251del (p.Glu406_Pro417del)	MECP2	Deletion (inframe_deletion)	not specified +3 more	GUncertain significance
Select item 143421	NM_001110792.2(MECP2):c.1216G>A (p.Glu406Lys)	MECP2 (E394K +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 143412	NM_001110792.2(MECP2):c.1198CCACCT[1] (p.Pro402_Pro403del)	MECP2	Microsatellite (inframe_deletion)	not provided +3 more	GBenign/Likely benign
Select item 95184	NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser)	MECP2 (P388S +2 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 158880	NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys)	MECP2 (R354C +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 189629	NM_001110792.2(MECP2):c.868G>A (p.Ala290Thr)	MECP2 (A278T +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly +1 more	GLikely benign
Select item 143609	NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg)	MECP2 (P173R +2 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly +2 more	GConflicting classifications of pathogenicity
Select item 143579	NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)	MECP2 (P152R +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GPathogenic FDA Recognized database
Select item 11809	NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)	MECP2 (R133C +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GPathogenic FDA Recognized database
Select item 11814	NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)	MECP2 (R106W +2 more)	Single nucleotide variant (missense variant +1 more)	Severe neonatal-onset encephalopathy with microcephaly +7 more	GPathogenic/Likely pathogenic
Select item 393492	NM_001110792.2(MECP2):c.349A>C (p.Thr117Pro)	MECP2 (T105P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 36