ClinVar (all) for Orgtrack (Select 226585) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 562021	NM_007129.5(ZIC2):c.381_382del (p.Asp128fs)	ZIC2 (D128fs)	Deletion (frameshift variant)	Holoprosencephaly 5	GLikely pathogenic
Select item 562020	NM_031443.4(CCM2):c.584T>G (p.Leu195Arg)	CCM2 (L195R +2 more)	Single nucleotide variant (missense variant +2 more)	Cerebral cavernous malformation 2	GLikely pathogenic
Select item 562019	NM_018943.3(TUBA8):c.661C>T (p.Arg221Cys)	TUBA8 (R221C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 562018	NM_153252.5(BRWD3):c.5236C>T (p.Arg1746Ter)	BRWD3 (R1746*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 93	GUncertain significance
Select item 562017	NM_001110556.2(FLNA):c.6772G>T (p.Glu2258Ter)	FLNA (E2250* +1 more)	Single nucleotide variant (nonsense)	Heterotopia, periventricular, X-linked dominant	GLikely pathogenic
Select item 562016	NM_133642.5(LARGE1):c.1033_1034dup (p.Asn345fs)	LARGE1 (N345fs +1 more)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	GLikely pathogenic
Select item 562015	NM_022336.4(EDAR):c.265C>T (p.Arg89Cys)	EDAR, RANBP2 (R89C)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 562014	NM_194454.3(KRIT1):c.896del (p.Gly299fs)	KRIT1 (G299fs +1 more)	Deletion (frameshift variant +1 more)	Cerebral cavernous malformation	GLikely pathogenic
Select item 562013	NM_007217.4(PDCD10):c.575dup (p.Ser193fs)	PDCD10 (S193fs)	Duplication (frameshift variant)	Cerebral cavernous malformation +1 more	GPathogenic/Likely pathogenic
Select item 562012	NM_004484.4(GPC3):c.974C>A (p.Ser325Ter)	GPC3 (S325* +2 more)	Single nucleotide variant (nonsense)	Simpson-Golabi-Behmel syndrome type 1	GLikely pathogenic
Select item 562011	NM_000264.5(PTCH1):c.407dup (p.Ser137fs)	PTCH1 (S136fs +2 more)	Duplication (frameshift variant +2 more)	Gorlin syndrome	GPathogenic
Select item 562010	NM_001278116.2(L1CAM):c.1570C>T (p.Pro524Ser)	L1CAM (P524S +1 more)	Single nucleotide variant (missense variant)	X-linked hydrocephalus syndrome	GUncertain significance
Select item 562009	NM_001002294.3(FMO3):c.442G>A (p.Gly148Arg)	FMO3, LOC126805916 (G148R +2 more)	Single nucleotide variant (missense variant)	Trimethylaminuria	GLikely pathogenic
Select item 562008	NM_001002294.3(FMO3):c.370C>T (p.Gln124Ter)	LOC126805916, FMO3 (Q124* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 267735	NM_004380.3(CREBBP):c.3190G>A (p.Glu1064Lys)	CREBBP (E1064K +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 267734	NM_006086.4(TUBB3):c.1200C>T (p.Gly400=)	TUBB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 267733	NM_003865.3(HESX1):c.385G>A (p.Val129Ile)	HESX1 (V129I)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +3 more	GConflicting classifications of pathogenicity
Select item 267732	NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter)	MCPH1 (E521* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 267731	NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter)	EDAR, RANBP2 (C428*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	GLikely pathogenic
Select item 267730	NM_024301.5(FKRP):c.402_403del (p.Arg134_Ala135insTer)	FKRP	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 242633	NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly)	REEP1 (R124G +2 more)	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 5849	NM_022336.4(EDAR):c.266G>A (p.Arg89His)	EDAR, RANBP2 (R89H)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GPathogenic

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Items: 22