3126[HGNC] - ClinVar

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Search results

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 2261153	NM_024007.5(EBF1):c.1712C>A (p.Thr571Asn)	EBF1 (T430N +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086823	NM_024007.5(EBF1):c.1684G>A (p.Val562Ile)	EBF1 (V430I +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308022	NM_024007.5(EBF1):c.1645G>A (p.Val549Ile)	EBF1 (V417I +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537303	NM_024007.5(EBF1):c.1546G>A (p.Ala516Thr)	EBF1 (A384T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086822	NM_024007.5(EBF1):c.1448C>G (p.Ser483Cys)	EBF1 (S350C +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274342	NM_024007.5(EBF1):c.1411G>C (p.Val471Leu)	EBF1 (V440L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612019	NM_024007.5(EBF1):c.1393G>A (p.Val465Ile)	EBF1 (V324I +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475510	NM_024007.5(EBF1):c.1364A>G (p.Asn455Ser)	EBF1 (N418S +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086821	NM_024007.5(EBF1):c.1351T>C (p.Ser451Pro)	EBF1 (S310P +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205988	NM_024007.5(EBF1):c.1306G>A (p.Val436Met)	EBF1 (V303M +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086820	NM_024007.5(EBF1):c.1274C>T (p.Ala425Val)	EBF1 (A284V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086819	NM_024007.5(EBF1):c.1265C>T (p.Pro422Leu)	EBF1 (P384L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274343	NM_024007.5(EBF1):c.1261C>T (p.Leu421Phe)	EBF1 (L280F +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086818	NM_024007.5(EBF1):c.1247G>T (p.Arg416Leu)	EBF1 (R378L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604138	NM_024007.5(EBF1):c.988A>C (p.Lys330Gln)	EBF1 (K198Q +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271952	NM_024007.5(EBF1):c.848T>C (p.Ile283Thr)	EBF1 (I246T +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465726	NM_024007.5(EBF1):c.668G>A (p.Gly223Asp)	EBF1 (G200D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274344	NM_024007.5(EBF1):c.653C>T (p.Thr218Ile)	EBF1 (T195I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257880	NM_024007.5(EBF1):c.626G>A (p.Arg209Gln)	EBF1 (R209Q +3 more)	Single nucleotide variant (missense variant)	Neoplasm	OLikely oncogenic
Select item 2572316	NM_024007.5(EBF1):c.625C>T (p.Arg209Trp)	EBF1 (R171W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707452	Single allele	ADRA1B, ATP10B +111 more	Duplication	not specified	GUncertain significance
Select item 149967	GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)x1	GABRA1, GABRA6 +108 more	Copy number loss	See cases	GPathogenic
Select item 3086825	NM_024007.5(EBF1):c.398C>A (p.Ser133Tyr)	EBF1 (S133Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086824	NM_024007.5(EBF1):c.397T>A (p.Ser133Thr)	EBF1 (S95T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522762	NM_024007.5(EBF1):c.365C>T (p.Thr122Met)	EBF1 (T122M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3257881	NM_024007.5(EBF1):c.134+5G>A	EBF1, LOC129995155	Single nucleotide variant (intron variant)	Neoplasm	OLikely oncogenic
Select item 2604381	NM_024007.5(EBF1):c.115G>C (p.Ala39Pro)	EBF1, LOC129995155 (A39P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	PTTG1, UBLCP1 +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1339784	GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1	ADAM19, ADRA1B +33 more	Copy number loss	not provided	Gnot provided
Select item 814757	GRCh37/hg19 5q33.3-34(chr5:157801321-162780186)x1	GABRA1, PTTG1 +17 more	Copy number loss	not provided	GPathogenic
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 687970	GRCh37/hg19 5q33.3(chr5:158423338-159076314)x3	EBF1, IL12B +2 more	Copy number gain	not provided	GUncertain significance
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic

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Items: 45