14621[HGNC] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 60043	GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1	LOC129931815, LOC129931816 +151 more	Copy number loss	See cases	GPathogenic
Select item 2555977	NM_145697.3(NUF2):c.20C>G (p.Pro7Arg)	NUF2 (P7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301419	NM_145697.3(NUF2):c.43G>T (p.Val15Leu)	NUF2 (V15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328898	NM_145697.3(NUF2):c.91C>G (p.Leu31Val)	NUF2 (L31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294027	NM_145697.3(NUF2):c.224A>G (p.Tyr75Cys)	NUF2 (Y75C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202844	NM_145697.3(NUF2):c.298C>T (p.Arg100Trp)	NUF2 (R100W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305995	NM_145697.3(NUF2):c.299G>A (p.Arg100Gln)	NUF2 (R100Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335738	NM_145697.3(NUF2):c.347G>C (p.Arg116Pro)	NUF2 (R116P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 992629	NM_145697.3(NUF2):c.371T>G (p.Ile124Ser)	NUF2 (I124S)	Single nucleotide variant (missense variant)	Short stature +1 more	GPathogenic
Select item 2391728	NM_145697.3(NUF2):c.403C>T (p.Arg135Cys)	NUF2 (R135C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202845	NM_145697.3(NUF2):c.404G>A (p.Arg135His)	NUF2 (R135H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314679	NM_145697.3(NUF2):c.423T>G (p.Phe141Leu)	NUF2 (F141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202846	NM_145697.3(NUF2):c.446C>T (p.Ala149Val)	NUF2 (A149V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2244390	NM_145697.3(NUF2):c.450C>A (p.Asp150Glu)	NUF2 (D150E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222502	NM_145697.3(NUF2):c.596A>C (p.His199Pro)	NUF2 (H199P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218094	NM_145697.3(NUF2):c.782C>T (p.Thr261Met)	NUF2 (T261M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684154	NM_145697.3(NUF2):c.908T>C (p.Leu303Pro)	NUF2 (L303P)	Single nucleotide variant (missense variant)	4p partial monosomy syndrome	GUncertain significance
Select item 3202847	NM_145697.3(NUF2):c.951C>G (p.Ser317Arg)	NUF2 (S317R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202848	NM_145697.3(NUF2):c.984G>C (p.Glu328Asp)	NUF2 (E328D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534131	NM_145697.3(NUF2):c.1039G>A (p.Val347Met)	NUF2 (V347M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279702	NM_145697.3(NUF2):c.1143A>C (p.Gln381His)	NUF2 (Q381H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618281	NM_145697.3(NUF2):c.1154G>T (p.Gly385Val)	NUF2 (G385V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321942	NM_145697.3(NUF2):c.1293G>C (p.Glu431Asp)	NUF2 (E431D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202843	NM_145697.3(NUF2):c.1309A>G (p.Ile437Val)	NUF2 (I437V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518093	NM_145697.3(NUF2):c.1324G>A (p.Glu442Lys)	NUF2 (E442K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301418	NM_145697.3(NUF2):c.1379T>G (p.Phe460Cys)	NUF2 (F460C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475729	NM_145697.3(NUF2):c.1385T>C (p.Met462Thr)	NUF2 (M462T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808712	GRCh37/hg19 1q23.3(chr1:161924068-164761399)x1	ATF6, C1orf226 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688465	GRCh37/hg19 1q23.3-24.2(chr1:163093021-168991239)x1	ADCY10, ALDH9A1 +30 more	Copy number loss	not provided	GPathogenic
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic

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Items: 41