ClinVar for MedGen (Select 1526) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339481	NM_002204.4(ITGA3):c.1766G>C (p.Arg589Pro)	ITGA3 (R589P)	Single nucleotide variant (missense variant)	Phimosis +8 more	GUncertain significance
Select item 1338810	NM_000193.4(SHH):c.86G>C (p.Gly29Ala)	SHH (G29A)	Single nucleotide variant (missense variant)	Anemia +9 more	GUncertain significance
Select item 1012273	NM_000371.4(TTR):c.[239C>T];[424G>A]			Familial amyloid neuropathy	GPathogenic
Select item 986742	NM_003680.4(YARS1):c.611A>C (p.Tyr204Ser)	YARS1 (Y204S)	Single nucleotide variant (missense variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 +7 more	GUncertain significance
Select item 812972	NM_002049.4(GATA1):c.680C>T (p.Ala227Val)	GATA1 (A227V)	Single nucleotide variant (missense variant)	Anemia +1 more	GLikely pathogenic
Select item 812956	Single allele	ABCG4, ACRV1 +169 more	Deletion	Neurodevelopmental delay +7 more	GLikely pathogenic
Select item 812897	NM_001029.5(RPS26):c.312+2T>A	RPS26	Single nucleotide variant (splice donor variant)	Pure red-cell aplasia +1 more	GLikely pathogenic
Select item 812890	NM_003126.4(SPTA1):c.2464+1G>A	SPTA1	Single nucleotide variant (splice donor variant)	SPTA1-related disorders +1 more	GLikely pathogenic
Select item 812886	NM_002524.5(NRAS):c.176C>A (p.Ala59Asp)	NRAS (A59D)	Single nucleotide variant (missense variant)	Noonan syndrome +1 more	GLikely pathogenic
Select item 812883	NM_000975.5(RPL11):c.142_143dup (p.Val49fs)	RPL11 (V48fs +1 more)	Duplication (frameshift variant)	Anemia +1 more	GLikely pathogenic
Select item 638278	NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys)	NSD2 (E1099K)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +14 more	GConflicting classifications of pathogenicity
Select item 523417	NM_032638.5(GATA2):c.971A>G (p.Lys324Arg)	GATA2 (K324R)	Single nucleotide variant (missense variant)	Anemia +4 more	GUncertain significance
Select item 446748	NM_000518.4(HBB):c.[205C>T;20A>T]	LOC106099062, LOC107133510 +1 more (E7V +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN JAMAICA PLAIN	Gother
Select item 446747	NM_000518.4(HBB):c.[20A>T;271G>A]	LOC107133510, HBB +1 more (E91K +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN S (CAMEROON)	GPathogenic
Select item 446739	NM_000518.4(HBB):c.[364G>C;79G>A]	LOC110006319, LOC107133510 +2 more (E122Q +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN T (CAMBODIA)	Gother
Select item 446738	NM_000518.4(HBB):c.[20A>T;428C>T]	LOC106099062, LOC107133510 +2 more (E7V +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN S (TRAVIS)	GPathogenic
Select item 446737	NM_000518.4(HBB):c.[20A>T;249G>Y]	HBB, LOC106099062 +1 more (K83N +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN S (PROVIDENCE)	GPathogenic
Select item 446736	NM_000518.4(HBB):c.[20A>T;364G>A]	HBB, LOC107133510 +2 more (E122K +1 more)	Single nucleotide variant (missense variant)	Sickle cell-Hemoglobin O Arab disease	GPathogenic
Select item 446735	NM_000518.4(HBB):c.[20A>T;70G>A]	LOC106099062, LOC107133510 +1 more (E7V +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN S (ANTILLES)	GPathogenic
Select item 446731	NM_000518.4(HBB):c.[176C>G;20A>T]	LOC106099062, LOC107133510 +1 more (E7V +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN ZIGUINCHOR	Gother
Select item 446730	NM_000518.4(HBB):c.[20A>T;220G>A]	LOC107133510, HBB +1 more (D74N +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN ZIGUINCHOR	Gother
Select item 379222	NM_014009.4(FOXP3):c.1190G>A (p.Arg397Gln)	FOXP3 (R397Q +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 373944	NM_000037.4(ANK1):c.1948A>G (p.Met650Val)	ANK1 (M683V +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 267892	46;XX;t(4;14)(p15.2;q13)dn		Translocation	Clinodactyly of the 5th finger +14 more	GLikely pathogenic
Select item 15655	NM_000517.6(HBA2):c.410T>C (p.Leu137Pro)	HBA2, HBA1 +1 more (L137P)	Single nucleotide variant (missense variant)	Splenomegaly +1 more	GPathogenic
Select item 15333	NM_000518.5(HBB):c.20A>T (p.Glu7Val)	LOC106099062, LOC107133510 +1 more (E7V)	Single nucleotide variant (missense variant)	not provided +16 more	GPathogenic
Select item 15161	NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	HBB, LOC106099062 +1 more (E27K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +15 more	GPathogenic
Select item 15061	NC_000011.10:g.5226570_5233984del	HBD, HBB +4 more	Deletion	alpha Thalassemia +4 more	GPathogenic
Select item 13426	NM_000371.4(TTR):c.424G>A (p.Val142Ile)	TTR (V142I)	Single nucleotide variant (missense variant)	TTR-related condition +13 more	GPathogenic

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Items: 29