ClinVar for Gene (Select 27005) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331390	NM_001014443.3(USP21):c.215G>A (p.Arg72Gln)	USP21 (R101Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331389	NM_001014443.3(USP21):c.38G>A (p.Arg13Gln)	USP21 (R13Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187273	NM_001014443.3(USP21):c.433C>T (p.Arg145Trp)	USP21 (R174W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187272	NM_001014443.3(USP21):c.31C>T (p.Arg11Cys)	USP21 (R11C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187271	NM_001014443.3(USP21):c.313C>T (p.Arg105Trp)	USP21 (R105W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187270	NM_001014443.3(USP21):c.22C>T (p.Arg8Cys)	USP21 (R8C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187269	NM_001014443.3(USP21):c.164G>A (p.Arg55Gln)	USP21 (R55Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187268	NM_001014443.3(USP21):c.1142G>T (p.Cys381Phe)	USP21 (C381F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187267	NM_001014443.3(USP21):c.113G>A (p.Arg38His)	USP21 (R38H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 2610289	NM_001014443.3(USP21):c.1526A>G (p.Asn509Ser)	USP21 (N509S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605630	NM_001014443.3(USP21):c.1676A>G (p.Gln559Arg)	USP21 (Q559R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603045	NM_001014443.3(USP21):c.1081C>T (p.Arg361Cys)	USP21 (R390C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595086	NM_001014443.3(USP21):c.473G>A (p.Arg158His)	USP21 (R158H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540497	NM_001014443.3(USP21):c.307C>G (p.Pro103Ala)	USP21 (P103A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524966	NM_001014443.3(USP21):c.155T>G (p.Leu52Arg)	USP21 (L52R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500825	NM_001122764.3(PPOX):c.420del (p.Glu141fs)	B4GALT3, PPOX +1 more (E141fs)	Deletion (frameshift variant +2 more)	Variegate porphyria	GPathogenic
Select item 2491520	NM_001014443.3(USP21):c.1061G>A (p.Arg354Gln)	USP21 (R354Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479530	NM_001014443.3(USP21):c.487T>G (p.Phe163Val)	USP21 (F192V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462727	NM_001014443.3(USP21):c.935G>A (p.Arg312Gln)	USP21 (R312Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363876	NM_001014443.3(USP21):c.111G>T (p.Glu37Asp)	USP21 (E37D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324197	NM_001014443.3(USP21):c.703C>T (p.Pro235Ser)	USP21 (P264S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322258	NM_001014443.3(USP21):c.23G>A (p.Arg8His)	USP21 (R37H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304083	NM_001014443.3(USP21):c.965G>A (p.Arg322His)	USP21 (R322H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294763	NM_001014443.3(USP21):c.569C>A (p.Ser190Tyr)	USP21 (S190Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288060	NM_001014443.3(USP21):c.430C>T (p.Leu144Phe)	USP21 (L173F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286203	NM_001014443.3(USP21):c.428C>T (p.Ala143Val)	USP21 (A143V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261285	NM_001014443.3(USP21):c.1012C>T (p.Arg338Cys)	USP21 (R338C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253910	NM_001014443.3(USP21):c.230G>A (p.Arg77His)	USP21 (R106H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222731	NM_001014443.3(USP21):c.434G>A (p.Arg145Gln)	USP21 (R145Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207664	NM_001014443.3(USP21):c.1078A>G (p.Lys360Glu)	USP21 (K389E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809367	GRCh37/hg19 1q23.3(chr1:160778879-161190622)x3	ADAMTS4, ARHGAP30 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1341040	GRCh37/hg19 1q23.3(chr1:160859558-161409185)x3	ADAMTS4, APOA2 +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 830661	NC_000001.11:g.(?_160816880)_(161362518_?)dup	ADAMTS4, APOA2 +24 more	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 814134	GRCh37/hg19 1q23.3(chr1:161134675-161652307)x3	ADAMTS4, APOA2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 814133	GRCh37/hg19 1q23.3(chr1:160977795-161189147)x3	KLHDC9, PFDN2 +14 more	Copy number gain	not provided	GUncertain significance
Select item 688334	GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3	ADAMTS4, APOA2 +42 more	Copy number gain	not provided	GUncertain significance
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 687408	GRCh37/hg19 1q23.3(chr1:161134612-161422225)x3	ADAMTS4, APOA2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 639872	NC_000001.10:g.(?_160786670)_(161332233_?)dup	ADAMTS4, APOA2 +63 more	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
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 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 57815	GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3	ADAMTS4, APOA2 +58 more	Copy number gain	See cases	GUncertain significance
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 50