26379[HGNC] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 151771	GRCh38/hg38 17q23.2-23.3(chr17:61631101-63219455)x1	BRIP1, EFCAB3 +39 more	Copy number loss	See cases	GLikely pathogenic
Select item 153259	GRCh38/hg38 17q23.2(chr17:62039036-62927189)x3	EFCAB3, LOC105371855 +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 719782	NM_001144933.2(EFCAB3):c.34+6G>T	EFCAB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 770272	NM_001144933.2(EFCAB3):c.45G>C (p.Lys15Asn)	EFCAB3 (K15N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2360205	NM_173503.4(EFCAB3):c.76G>A (p.Asp26Asn)	EFCAB3 (D26N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274616	NM_173503.4(EFCAB3):c.134G>C (p.Ser45Thr)	EFCAB3 (S97T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087425	NM_173503.4(EFCAB3):c.161A>G (p.Asp54Gly)	EFCAB3 (D106G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745055	NM_173503.4(EFCAB3):c.165C>T (p.Ala55=)	EFCAB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2526760	NM_173503.4(EFCAB3):c.229G>A (p.Ala77Thr)	EFCAB3 (A129T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561000	NM_173503.4(EFCAB3):c.253A>C (p.Lys85Gln)	EFCAB3 (K137Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258615	NM_173503.4(EFCAB3):c.257A>G (p.His86Arg)	EFCAB3 (H138R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087426	NM_173503.4(EFCAB3):c.260A>G (p.Asp87Gly)	EFCAB3 (D139G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787599	NM_173503.4(EFCAB3):c.295C>T (p.Arg99Ter)	EFCAB3 (R99* +1 more)	Single nucleotide variant (nonsense)	not provided	GBenign/Likely benign
Select item 2352712	NM_173503.4(EFCAB3):c.301G>A (p.Gly101Arg)	EFCAB3 (G153R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219763	NM_173503.4(EFCAB3):c.449C>T (p.Thr150Ile)	EFCAB3 (T150I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789844	NM_173503.4(EFCAB3):c.488+2T>C	EFCAB3	Single nucleotide variant (splice donor variant)	not provided	GBenign
Select item 2220749	NM_173503.4(EFCAB3):c.500G>A (p.Arg167Lys)	EFCAB3 (R167K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251537	NM_173503.4(EFCAB3):c.545C>T (p.Thr182Ile)	EFCAB3 (T234I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087427	NM_173503.4(EFCAB3):c.798G>A (p.Met266Ile)	EFCAB3 (M266I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087429	NM_173503.4(EFCAB3):c.814C>G (p.Pro272Ala)	EFCAB3 (P272A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087428	NM_173503.4(EFCAB3):c.814C>A (p.Pro272Thr)	EFCAB3 (P272T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087424	NM_173503.4(EFCAB3):c.967G>A (p.Asp323Asn)	EFCAB3 (D375N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490376	NM_173503.4(EFCAB3):c.1000G>A (p.Ala334Thr)	EFCAB3 (A334T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617984	NM_173503.4(EFCAB3):c.1006G>A (p.Asp336Asn)	EFCAB3 (D388N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781326	NM_173503.4(EFCAB3):c.1109C>T (p.Ser370Phe)	EFCAB3 (S370F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 3063513	GRCh37/hg19 17q23.2(chr17:60052915-60457049)x3	EFCAB3, MED13	Copy number gain	not specified	GUncertain significance
Select item 1809418	GRCh37/hg19 17q23.2(chr17:60070415-60450079)x3	EFCAB3, MED13	Copy number gain	not provided	GUncertain significance
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 564461	GRCh37/hg19 17q23.2(chr17:60073670-60450079)x3	EFCAB3, MED13	Copy number gain	not provided	GUncertain significance
Select item 564457	GRCh37/hg19 17q23.2(chr17:58388728-60486746)x1	BCAS3, LINC02875 +11 more	Copy number loss	not provided	GLikely pathogenic
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
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic
Select item 58702	GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3	ACE, APOH +48 more	Copy number gain	See cases	GPathogenic

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Items: 39