ERAL1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147274	GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3	ALDOC, BLTP2 +88 more	Copy number gain	See cases	GBenign
Select item 154383	GRCh38/hg38 17q11.2(chr17:28757283-29216419)x3	DHRS13, ERAL1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 3090027	NM_005702.4(ERAL1):c.8C>T (p.Ala3Val)	ERAL1 (A3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227502	NM_005702.4(ERAL1):c.18G>C (p.Trp6Cys)	ERAL1 (W6C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360346	NM_005702.4(ERAL1):c.22G>A (p.Gly8Arg)	ERAL1 (G8R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090024	NM_005702.4(ERAL1):c.26C>T (p.Ala9Val)	ERAL1 (A9V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056600	NM_005702.4(ERAL1):c.81G>A (p.Arg27=)	ERAL1	Single nucleotide variant (synonymous variant +1 more)	ERAL1-related disorder	GLikely benign
Select item 2477508	NM_005702.4(ERAL1):c.133T>A (p.Ser45Thr)	ERAL1 (S45T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1031569	NM_005702.4(ERAL1):c.151G>A (p.Ala51Thr)	ERAL1 (A51T)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 6	GUncertain significance
Select item 2309686	NM_005702.4(ERAL1):c.163C>A (p.Pro55Thr)	ERAL1 (P55T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275536	NM_005702.4(ERAL1):c.172G>A (p.Ala58Thr)	ERAL1 (A58T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617604	NM_005702.4(ERAL1):c.188G>T (p.Ser63Ile)	ERAL1 (S63I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310132	NM_005702.4(ERAL1):c.245C>T (p.Ser82Leu)	ERAL1 (S82L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1294695	NM_005702.4(ERAL1):c.284-178G>A	ERAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231247	NM_005702.4(ERAL1):c.284-127C>G	ERAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2570981	NM_005702.4(ERAL1):c.356T>A (p.Leu119Gln)	ERAL1 (L119Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1182082	NM_005702.4(ERAL1):c.411+53G>A	ERAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3042817	NM_005702.4(ERAL1):c.412-8C>T	ERAL1	Single nucleotide variant (intron variant)	ERAL1-related disorder	GBenign
Select item 3276160	NM_005702.4(ERAL1):c.439A>G (p.Thr147Ala)	ERAL1 (T147A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3047013	NM_005702.4(ERAL1):c.454G>A (p.Ala152Thr)	ERAL1 (A152T)	Single nucleotide variant (missense variant +1 more)	ERAL1-related disorder	GLikely benign
Select item 1288338	NM_005702.4(ERAL1):c.489+147del	ERAL1	Deletion (intron variant)	not provided	GBenign
Select item 3049212	NM_005702.4(ERAL1):c.542A>G (p.His181Arg)	ERAL1, LOC126862526 (H180R +1 more)	Single nucleotide variant (missense variant +1 more)	ERAL1-related disorder	GLikely benign
Select item 3276157	NM_005702.4(ERAL1):c.596T>C (p.Leu199Pro)	ERAL1, LOC126862526 (L198P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090025	NM_005702.4(ERAL1):c.601G>T (p.Val201Leu)	ERAL1, LOC126862526 (V200L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527865	NM_005702.4(ERAL1):c.685A>T (p.Ile229Phe)	ERAL1, LOC126862526 (I228F +1 more)	Single nucleotide variant (missense variant +1 more)	Hearing impairment	GUncertain significance
Select item 430638	NM_005702.4(ERAL1):c.707A>T (p.Asn236Ile)	ERAL1, LOC126862526 (N236I +1 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 6	GPathogenic
Select item 3052631	NM_005702.4(ERAL1):c.723G>A (p.Leu241=)	ERAL1, LOC126862526	Single nucleotide variant (synonymous variant +2 more)	ERAL1-related disorder	GBenign
Select item 3090026	NM_005702.4(ERAL1):c.782G>T (p.Gly261Val)	ERAL1, LOC126862526 (G260V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3051053	NM_005702.4(ERAL1):c.890T>C (p.Ile297Thr)	LOC126862526, ERAL1 (I296T +1 more)	Single nucleotide variant (missense variant +1 more)	ERAL1-related disorder	GLikely benign
Select item 3090028	NM_005702.4(ERAL1):c.902A>G (p.His301Arg)	ERAL1, LOC126862526 (H300R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1255389	NM_005702.4(ERAL1):c.945C>T (p.Asp315=)	ERAL1, LOC126862526	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3353830	NM_005702.4(ERAL1):c.951A>C (p.Lys317Asn)	ERAL1, LOC126862526 (K316N +1 more)	Single nucleotide variant (missense variant +1 more)	ERAL1-related disorder	GLikely benign
Select item 3276158	NM_005702.4(ERAL1):c.991C>T (p.Pro331Ser)	ERAL1, LOC126862526 (P248S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2582955	NM_005702.4(ERAL1):c.1011A>C (p.Ala337=)	ERAL1, LOC126862526	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2543006	NM_005702.4(ERAL1):c.1031C>G (p.Pro344Arg)	ERAL1, LOC126862526 (P343R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273422	NM_005702.4(ERAL1):c.1038G>T (p.Glu346Asp)	ERAL1, LOC126862526 (E263D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3054953	NM_005702.4(ERAL1):c.1107G>A (p.Gln369=)	ERAL1, LOC126862526	Single nucleotide variant (synonymous variant +1 more)	ERAL1-related disorder	GLikely benign
Select item 1275659	NM_005702.4(ERAL1):c.1191+177T>C	ERAL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2489795	NM_005702.4(ERAL1):c.1271T>G (p.Leu424Arg)	ERAL1 (L341R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1256947	NM_005702.4(ERAL1):c.*65G>T	ERAL1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1267992	NM_005702.4(ERAL1):c.*218C>T	ERAL1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2425303	NC_000017.10:g.(?_26684694)_(27581367_?)dup	ALDOC, BLTP2 +29 more	Duplication	not provided	GUncertain significance
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 51