ClinVar for Gene (Select 80237) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275164	NM_025165.3(ELL3):c.553G>A (p.Ala185Thr)	ELL3 (A185T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275163	NM_025165.3(ELL3):c.679G>C (p.Glu227Gln)	ELL3 (E227Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088327	NM_025165.3(ELL3):c.634C>T (p.Arg212Cys)	ELL3 (R212C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088326	NM_025165.3(ELL3):c.607G>C (p.Ala203Pro)	ELL3 (A203P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088325	NM_025165.3(ELL3):c.401C>G (p.Ala134Gly)	ELL3 (A134G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088324	NM_025165.3(ELL3):c.34C>G (p.Leu12Val)	ELL3 (L12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088323	NM_025165.3(ELL3):c.16G>C (p.Glu6Gln)	ELL3 (E6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088322	NM_025165.3(ELL3):c.1111C>T (p.Arg371Cys)	ELL3, PDIA3 (R371C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3024593	GRCh37/hg19 15q15.3(chr15:43988438-44216507)x3	CKMT1A, ELL3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2596546	NM_025165.3(ELL3):c.649C>T (p.Arg217Cys)	ELL3 (R217C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540909	NM_025165.3(ELL3):c.640G>A (p.Asp214Asn)	ELL3 (D214N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526761	NM_025165.3(ELL3):c.497A>T (p.Asp166Val)	ELL3 (D166V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512067	NM_025165.3(ELL3):c.185G>A (p.Gly62Asp)	ELL3 (G62D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385512	NM_025165.3(ELL3):c.384C>A (p.His128Gln)	ELL3 (H128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384473	NM_025165.3(ELL3):c.133G>A (p.Val45Ile)	ELL3 (V45I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379477	NM_025165.3(ELL3):c.1016G>A (p.Arg339Gln)	ELL3 (R339Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361848	NM_025165.3(ELL3):c.1048G>A (p.Asp350Asn)	ELL3 (D350N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341787	NM_025165.3(ELL3):c.119G>T (p.Cys40Phe)	ELL3 (C40F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339134	NM_025165.3(ELL3):c.1008A>C (p.Lys336Asn)	ELL3 (K336N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333952	NM_025165.3(ELL3):c.348G>A (p.Met116Ile)	ELL3 (M116I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302739	NM_025165.3(ELL3):c.807T>G (p.Ser269Arg)	ELL3 (S269R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301335	NM_025165.3(ELL3):c.794G>A (p.Arg265Lys)	ELL3 (R265K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266087	NM_025165.3(ELL3):c.118T>G (p.Cys40Gly)	ELL3 (C40G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245997	NM_025165.3(ELL3):c.116A>T (p.Glu39Val)	ELL3 (E39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230601	NM_025165.3(ELL3):c.287G>A (p.Gly96Glu)	ELL3 (G96E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220113	NM_025165.3(ELL3):c.509G>A (p.Ser170Asn)	ELL3 (S170N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1341068	GRCh37/hg19 15q15.2-15.3(chr15:43215243-44632384)x1	ADAL, CATSPER2 +24 more	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 815709	GRCh37/hg19 15q15.2-15.3(chr15:43420601-44198616)x3	TGM5, PDIA3 +22 more	Copy number gain	not provided	GUncertain significance
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 155042	GRCh38/hg38 15q15.3-21.1(chr15:43696563-44541320)x1	CKMT1A, CTDSPL2 +42 more	Copy number loss	See cases	GUncertain significance
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 41