DHRD - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 336605	NM_001039348.3(EFEMP1):c.*1088A>C	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GUncertain significance
Select item 336606	NM_001039348.3(EFEMP1):c.*1063G>A	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GBenign
Select item 336607	NM_001039348.3(EFEMP1):c.*1026C>T	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GBenign
Select item 336608	NM_001039348.3(EFEMP1):c.*1004C>G	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy +1 more	GBenign
Select item 336609	NM_001039348.3(EFEMP1):c.*962C>A	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GBenign
Select item 336610	NM_001039348.3(EFEMP1):c.*946T>C	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GUncertain significance
Select item 336611	NM_001039348.3(EFEMP1):c.*800C>T	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GBenign
Select item 336612	NM_001039348.3(EFEMP1):c.*695T>C	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GBenign
Select item 336613	NM_001039348.3(EFEMP1):c.*687T>C	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GBenign
Select item 336614	NM_001039348.3(EFEMP1):c.*668C>T	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GBenign
Select item 336615	NM_001039348.3(EFEMP1):c.*649C>T	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GBenign
Select item 898222	NM_001039348.3(EFEMP1):c.*507C>T	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GBenign
Select item 898223	NM_001039348.3(EFEMP1):c.*349A>T	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GUncertain significance
Select item 336616	NM_001039348.3(EFEMP1):c.*248A>C	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GBenign
Select item 336617	NM_001039348.3(EFEMP1):c.*182G>C	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GUncertain significance
Select item 336618	NM_001039348.3(EFEMP1):c.*168A>G	EFEMP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 336619	NM_001039348.3(EFEMP1):c.*152G>A	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GUncertain significance
Select item 336620	NM_001039348.3(EFEMP1):c.*146T>A	EFEMP1	Single nucleotide variant (3 prime UTR variant)	Doyne honeycomb retinal dystrophy	GUncertain significance
Select item 191301	NM_001039348.3(EFEMP1):c.*6del	EFEMP1	Deletion (3 prime UTR variant)	not specified +2 more	GBenign/Likely benign
Select item 194014	NM_001039348.3(EFEMP1):c.1413C>T (p.Ser471=)	EFEMP1	Single nucleotide variant (synonymous variant)	Doyne honeycomb retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 899333	NM_001039348.3(EFEMP1):c.1386C>T (p.Ile462=)	EFEMP1	Single nucleotide variant (synonymous variant)	Doyne honeycomb retinal dystrophy +1 more	GLikely benign
Select item 899334	NM_001039348.3(EFEMP1):c.1353C>T (p.Leu451=)	EFEMP1	Single nucleotide variant (synonymous variant)	Doyne honeycomb retinal dystrophy	GUncertain significance
Select item 2441181	NM_001039348.3(EFEMP1):c.1339G>T (p.Ala447Ser)	EFEMP1 (A447S)	Single nucleotide variant (missense variant)	Doyne honeycomb retinal dystrophy	GUncertain significance
Select item 336621	NM_001039348.3(EFEMP1):c.1160G>A (p.Arg387Gln)	EFEMP1 (R387Q)	Single nucleotide variant (missense variant)	Doyne honeycomb retinal dystrophy +1 more	GBenign
Select item 895241	NM_001039348.3(EFEMP1):c.1120G>C (p.Glu374Gln)	EFEMP1 (E374Q)	Single nucleotide variant (missense variant)	Doyne honeycomb retinal dystrophy	GUncertain significance
Select item 849590	NM_001039348.3(EFEMP1):c.1118C>T (p.Pro373Leu)	EFEMP1 (P373L)	Single nucleotide variant (missense variant)	Doyne honeycomb retinal dystrophy +1 more	GUncertain significance
Select item 895242	NM_001039348.3(EFEMP1):c.1062T>C (p.His354=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 8072	NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp)	EFEMP1 (R345W)	Single nucleotide variant (missense variant)	Doyne honeycomb retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 257227	NM_001039348.3(EFEMP1):c.1001-14C>T	EFEMP1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1168267	NM_001039348.3(EFEMP1):c.1000+19del	EFEMP1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 336622	NM_001039348.3(EFEMP1):c.1000+9del	EFEMP1	Deletion (intron variant)	Doyne honeycomb retinal dystrophy	GUncertain significance
Select item 895243	NM_001039348.3(EFEMP1):c.981G>A (p.Val327=)	EFEMP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 336623	NM_001039348.3(EFEMP1):c.963C>T (p.Pro321=)	EFEMP1	Single nucleotide variant (synonymous variant)	Doyne honeycomb retinal dystrophy	GUncertain significance
Select item 336625	NM_001039348.3(EFEMP1):c.761-28TA[9]	EFEMP1	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 336624	NM_001039348.3(EFEMP1):c.761-28TA[8]	EFEMP1	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 336626	NM_001039348.3(EFEMP1):c.732A>G (p.Gln244=)	EFEMP1	Single nucleotide variant (synonymous variant)	Doyne honeycomb retinal dystrophy +1 more	GLikely benign
Select item 336627	NM_001039348.3(EFEMP1):c.640+6T>C	EFEMP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1942561	NM_001039348.3(EFEMP1):c.525C>T (p.Asp175=)	EFEMP1	Single nucleotide variant (synonymous variant)	Doyne honeycomb retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 336628	NM_001039348.3(EFEMP1):c.518-11G>A	EFEMP1	Single nucleotide variant (intron variant)	Doyne honeycomb retinal dystrophy +1 more	GBenign
Select item 167031	NM_001039348.3(EFEMP1):c.518-13A>G	EFEMP1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 336629	NM_001039348.3(EFEMP1):c.489C>T (p.Tyr163=)	EFEMP1	Single nucleotide variant (synonymous variant)	Doyne honeycomb retinal dystrophy +1 more	GBenign/Likely benign
Select item 197709	NM_001039348.3(EFEMP1):c.418C>T (p.Arg140Trp)	EFEMP1 (R140W)	Single nucleotide variant (missense variant)	Doyne honeycomb retinal dystrophy +2 more	GUncertain significance
Select item 896671	NM_001039348.3(EFEMP1):c.401G>A (p.Arg134Gln)	EFEMP1 (R134Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 93482	NM_001039348.3(EFEMP1):c.387A>G (p.Glu129=)	EFEMP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 336630	NM_001039348.3(EFEMP1):c.246A>G (p.Glu82=)	EFEMP1	Single nucleotide variant (synonymous variant)	Doyne honeycomb retinal dystrophy +1 more	GBenign
Select item 336631	NM_001039348.3(EFEMP1):c.207C>A (p.Leu69=)	EFEMP1	Single nucleotide variant (synonymous variant)	Doyne honeycomb retinal dystrophy +1 more	GBenign
Select item 896672	NM_001039348.3(EFEMP1):c.195T>C (p.Tyr65=)	EFEMP1	Single nucleotide variant (synonymous variant)	Doyne honeycomb retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 283832	NM_001039348.3(EFEMP1):c.146A>C (p.Asp49Ala)	EFEMP1 (D49A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 336632	NM_001039348.3(EFEMP1):c.134T>C (p.Ile45Thr)	EFEMP1 (I45T)	Single nucleotide variant (missense variant)	Doyne honeycomb retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1168191	NM_001039348.3(EFEMP1):c.81+20G>C	EFEMP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 336633	NM_001039348.3(EFEMP1):c.-16T>A	EFEMP1	Single nucleotide variant (5 prime UTR variant +1 more)	Doyne honeycomb retinal dystrophy +1 more	GBenign
Select item 336634	NM_001039348.3(EFEMP1):c.-52A>G	EFEMP1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 336635	NM_001039348.3(EFEMP1):c.-60G>A	EFEMP1	Single nucleotide variant (5 prime UTR variant)	Doyne honeycomb retinal dystrophy +1 more	GBenign
Select item 336636	NM_001039348.3(EFEMP1):c.-64C>T	EFEMP1	Single nucleotide variant (5 prime UTR variant)	Doyne honeycomb retinal dystrophy +1 more	GBenign/Likely benign
Select item 336637	NM_001039348.3(EFEMP1):c.-67G>A	EFEMP1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 336638	NM_001039348.3(EFEMP1):c.-88C>T	EFEMP1	Single nucleotide variant (5 prime UTR variant)	Doyne honeycomb retinal dystrophy +1 more	GBenign
Select item 336639	NM_001039348.3(EFEMP1):c.-105C>T	EFEMP1	Single nucleotide variant (5 prime UTR variant)	Doyne honeycomb retinal dystrophy	GBenign
Select item 336640	NM_001039348.2(EFEMP1):c.-136C>G	EFEMP1	Single nucleotide variant	Doyne honeycomb retinal dystrophy +1 more	GLikely benign
Select item 336641	NM_001039348.2(EFEMP1):c.-196C>T	EFEMP1	Single nucleotide variant	Doyne honeycomb retinal dystrophy +1 more	GBenign
Select item 336642	NM_001039348.2(EFEMP1):c.-251G>C	EFEMP1	Single nucleotide variant	Doyne honeycomb retinal dystrophy +1 more	GUncertain significance
Select item 336643	NM_001039348.2(EFEMP1):c.-261C>A	EFEMP1	Single nucleotide variant	Doyne honeycomb retinal dystrophy	GLikely benign
Select item 336644	NM_001039348.2(EFEMP1):c.-269G>A	EFEMP1	Single nucleotide variant	Doyne honeycomb retinal dystrophy	GUncertain significance
Select item 336645	NM_001039348.2(EFEMP1):c.-368G>C	EFEMP1	Single nucleotide variant	Doyne honeycomb retinal dystrophy +1 more	GBenign
Select item 336646	NM_001039348.2(EFEMP1):c.-460C>A	EFEMP1	Single nucleotide variant	Doyne honeycomb retinal dystrophy +1 more	GBenign
Select item 336647	NM_001039348.2(EFEMP1):c.-464C>T	EFEMP1	Single nucleotide variant	Doyne honeycomb retinal dystrophy +1 more	GLikely benign
Select item 336648	NM_001039348.2(EFEMP1):c.-494C>G	EFEMP1	Single nucleotide variant	Doyne honeycomb retinal dystrophy	GUncertain significance
Select item 98713	NM_000322.5(PRPH2):c.828+3A>T	PRPH2	Single nucleotide variant (intron variant)	Doyne honeycomb retinal dystrophy +9 more	GPathogenic

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Items: 67