ClinVar for MedGen (Select 6817) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1804036	NM_001256071.3(RNF213):c.114C>G (p.Asn38Lys)	RNF213 (N38K)	Single nucleotide variant (missense variant)	Seizure +4 more	GLikely pathogenic
Select item 1802614	NM_001569.4(IRAK1):c.1138C>T (p.Arg380Trp)	IRAK1 (R380W +1 more)	Single nucleotide variant (missense variant)	Inguinal hernia +5 more	GUncertain significance
Select item 827847	NM_013390.3(CEMIP2):c.3144G>A (p.Trp1048Ter)	CEMIP2 (W1048* +2 more)	Single nucleotide variant (nonsense)	Inguinal hernia +5 more	GPathogenic
Select item 827846	NM_013390.3(CEMIP2):c.1358G>A (p.Cys453Tyr)	CEMIP2 (C453Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Inguinal hernia +5 more	GPathogenic
Select item 691885	NM_001039348.3(EFEMP1):c.615T>A (p.Tyr205Ter)	EFEMP1 (Y205*)	Single nucleotide variant (nonsense)	Dural ectasia +13 more	GPathogenic
Select item 691884	NM_001039348.3(EFEMP1):c.320_324del (p.Met107fs)	EFEMP1 (M107fs)	Deletion (frameshift variant)	Dural ectasia +13 more	GPathogenic
Select item 623485	NM_014462.3(LSM1):c.231+4A>C	LSM1	Single nucleotide variant (intron variant)	Triphalangeal thumb +19 more	GUncertain significance
Select item 549661	NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp)	ACTL6A (R377W +1 more)	Single nucleotide variant (missense variant)	Atrial septal defect +14 more	GConflicting classifications of pathogenicity
Select item 523433	NM_000501.4(ELN):c.898A>T (p.Thr300Ser)	ELN (T300S +6 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +9 more	GUncertain significance
Select item 523328	NM_000093.5(COL5A1):c.608G>T (p.Gly203Val)	COL5A1 (G203V)	Single nucleotide variant (missense variant)	Inguinal hernia +12 more	GLikely pathogenic
Select item 523273	GRCh37/hg19 22q11.21(chr22:18894835-20311763)	DGCR6L, DGCR8 +27 more	Copy number loss	Velopharyngeal insufficiency +8 more	GPathogenic
Select item 374115	NM_000138.5(FBN1):c.840_843del (p.Asn280fs)	FBN1 (N280fs)	Deletion (frameshift variant)	Myopia +4 more	GPathogenic
Select item 267941	46;XY;inv(6)(p22q13)dn		Inversion	Hypotonia +22 more	GPathogenic
Select item 267862	46;XY;t(1;3)(p22;q21)dn		Translocation	Corpus callosum, agenesis of +24 more	GUncertain significance
Select item 267848	46;XY;t(3;10)(p26.3;q26.3)dn		Translocation	Abnormal facial shape +4 more	GPathogenic
Select item 267817	46;XY;t(1;5)(p35.3;q31.3)dn		Translocation	Low-set, posteriorly rotated ears +17 more	GPathogenic
Select item 267808	46;XY;t(4;14)(p15.32;q32.1)dn		Translocation	Nystagmus +7 more	GUncertain significance
Select item 216067	NM_001042492.3(NF1):c.7482G>A (p.Trp2494Ter)	NF1 (W2473* +1 more)	Single nucleotide variant (nonsense)	Axillary freckling +9 more	GPathogenic