ClinVar for MedGen (Select 1779612) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068579	NM_001281740.3(FHOD3):c.2561_2566del (p.Ala854_Gly855del)	FHOD3	Deletion (inframe_deletion)	Cardiomyopathy, familial hypertrophic, 28	GBenign
Select item 3065960	NM_001281740.3(FHOD3):c.4787-1G>A	FHOD3	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy, familial hypertrophic, 28	GLikely pathogenic
Select item 3062011	NM_001281740.3(FHOD3):c.1066G>A (p.Gly356Ser)	FHOD3 (G356S)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 3024547	NM_001281740.3(FHOD3):c.2890G>T (p.Val964Phe)	FHOD3 (V772F +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 2665093	NM_001281740.3(FHOD3):c.928G>A (p.Asp310Asn)	FHOD3 (D310N)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 2665092	NM_001281740.3(FHOD3):c.1912C>T (p.Arg638Trp)	FHOD3 (R463W +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic, 28 +1 more	GConflicting classifications of pathogenicity
Select item 2585290	NM_001281740.3(FHOD3):c.4324G>T (p.Ala1442Ser)	FHOD3 (A1442S +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 2584574	NM_001281740.3(FHOD3):c.1097C>T (p.Ser366Leu)	FHOD3 (S366L)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic, 28 +1 more	GUncertain significance
Select item 2582611	NM_001281740.3(FHOD3):c.2481C>A (p.Ser827Arg)	FHOD3 (S635R +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 2500031	NM_001281740.3(FHOD3):c.3662G>A (p.Ser1221Asn)	FHOD3 (S1029N +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 2441437	NM_001281740.3(FHOD3):c.1910G>C (p.Arg637Pro)	FHOD3 (R462P +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic, 28 +1 more	GUncertain significance
Select item 1805290	NM_001281740.3(FHOD3):c.1646+2T>C	FHOD3	Single nucleotide variant (splice donor variant +1 more)	Cardiomyopathy, familial hypertrophic, 28 +1 more	GUncertain significance
Select item 1805289	NM_001281740.3(FHOD3):c.80G>C (p.Arg27Pro)	FHOD3, LOC130062385 (R27P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1805274	NM_001281740.3(FHOD3):c.3218C>G (p.Pro1073Arg)	FHOD3 (P1073R +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 1805091	NM_001281740.3(FHOD3):c.4430A>G (p.Asp1477Gly)	FHOD3 (D1477G)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 1709576	NM_001281740.3(FHOD3):c.1721+1G>A	FHOD3	Single nucleotide variant (splice donor variant +1 more)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 1708103	NM_001281740.3(FHOD3):c.172G>C (p.Asp58His)	FHOD3 (D58H)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 1699268	NM_001281740.3(FHOD3):c.1909C>T (p.Arg637Trp)	FHOD3 (R462W +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 1699167	NM_001281740.3(FHOD3):c.1016G>A (p.Arg339Gln)	FHOD3 (R339Q)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 1699163	NM_001281740.3(FHOD3):c.2263T>A (p.Ser755Thr)	FHOD3 (S563T +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 1698997	NM_001281740.3(FHOD3):c.3128G>A (p.Ser1043Asn)	FHOD3 (S1043N +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 1698945	NM_001281740.3(FHOD3):c.1913G>A (p.Arg638Gln)	FHOD3 (R463Q +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance
Select item 1174143	NM_001281740.3:c.1836-1527_2022-2042del	FHOD3	Deletion	Cardiomyopathy, familial hypertrophic, 28	GPathogenic
Select item 1174142	NM_001281740.3(FHOD3):c.1580_1582del (p.Ser527del)	FHOD3 (S527del)	Deletion (inframe_deletion +1 more)	Cardiomyopathy, familial hypertrophic, 28	GPathogenic
Select item 1174141	NM_001281740.3(FHOD3):c.1583A>G (p.Tyr528Cys)	FHOD3	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy, familial hypertrophic, 28	GLikely pathogenic
Select item 977175	NM_001281740.3(FHOD3):c.1646+1G>A	FHOD3	Single nucleotide variant (splice donor variant +1 more)	Cardiomyopathy, familial hypertrophic, 28	GUncertain significance

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Items: 26