ELP6[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 2226549	NM_001031703.3(ELP6):c.706G>A (p.Ala236Thr)	ELP6 (A163T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3088533	NM_001031703.3(ELP6):c.698C>T (p.Ser233Leu)	ELP6 (S183L +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 729126	NM_001031703.3(ELP6):c.672+9G>A	ELP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2262787	NM_001031703.3(ELP6):c.595G>A (p.Gly199Ser)	ELP6 (G126S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221238	NM_001031703.3(ELP6):c.578A>G (p.Asn193Ser)	ELP6 (N120S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530122	NM_001031703.3(ELP6):c.577A>G (p.Asn193Asp)	ELP6 (N193D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556153	NM_001031703.3(ELP6):c.568G>A (p.Asp190Asn)	ELP6 (D117N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088531	NM_001031703.3(ELP6):c.565G>C (p.Glu189Gln)	ELP6 (E139Q +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2513699	NM_001031703.3(ELP6):c.563C>G (p.Ala188Gly)	ELP6 (A188G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300798	NM_001031703.3(ELP6):c.413A>G (p.Tyr138Cys)	ELP6 (Y138C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2334885	NM_001031703.3(ELP6):c.410C>T (p.Thr137Met)	ELP6 (T64M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088530	NM_001031703.3(ELP6):c.404G>C (p.Arg135Pro)	ELP6 (R85P +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2397066	NM_001031703.3(ELP6):c.403C>T (p.Arg135Trp)	ELP6 (R135W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676202	NM_001031703.3(ELP6):c.353T>G (p.Leu118Trp)	ELP6 (L118W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2615089	NM_001031703.3(ELP6):c.266C>G (p.Ser89Cys)	ELP6 (S16C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454398	NM_001031703.3(ELP6):c.227G>A (p.Arg76Gln)	ELP6 (R3Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570090	NM_001031703.3(ELP6):c.220A>G (p.Met74Val)	ELP6 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2313185	NM_001031703.3(ELP6):c.208G>A (p.Val70Ile)	ELP6 (V70I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275633	NM_001031703.3(ELP6):c.193G>A (p.Gly65Arg)	ELP6 (G65R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510674	NM_001031703.3(ELP6):c.104T>C (p.Val35Ala)	ELP6 (V35A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3275254	NM_001031703.3(ELP6):c.101T>A (p.Leu34His)	ELP6 (L17H +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2233912	NM_001031703.3(ELP6):c.32C>G (p.Thr11Ser)	ELP6 (T11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568833	NM_001031703.3(ELP6):c.4T>C (p.Phe2Leu)	ELP6, LOC129936674 (F2L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062731	GRCh37/hg19 3p21.31(chr3:47405305-47880799)x3	CSPG5, DHX30 +4 more	Copy number gain	not specified	GUncertain significance
Select item 2426158	NC_000003.11:g.(?_47422587)_(47919033_?)dup	CSPG5, DHX30 +5 more	Duplication	not provided	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 32