UXS1[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 57183	GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	C2orf49, C2orf49-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 152946	GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3	C2orf49, C2orf49-DT +176 more	Copy number gain	See cases	GUncertain significance
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 145956	GRCh38/hg38 2q12.1-12.3(chr2:104381722-107312459)x1	C2orf49, C2orf49-DT +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 146152	GRCh38/hg38 2q12.1-12.2(chr2:105239034-106152100)x3	C2orf49, C2orf49-DT +41 more	Copy number gain	See cases	GBenign
Select item 58900	GRCh38/hg38 2q12.2-12.3(chr2:105828398-108080417)x3	CD8B2, ECRG4 +33 more	Copy number gain	See cases	GUncertain significance
Select item 2403252	NM_001253875.2(UXS1):c.1268G>A (p.Arg423His)	UXS1 (R364H +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2259314	NM_001253875.2(UXS1):c.1255A>C (p.Lys419Gln)	UXS1 (K306Q +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2253997	NM_001253875.2(UXS1):c.1004C>G (p.Thr335Arg)	UXS1 (T222R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2337270	NM_001253875.2(UXS1):c.952A>G (p.Met318Val)	UXS1 (M205V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331820	NM_001253875.2(UXS1):c.940C>T (p.Leu314Phe)	UXS1 (L254F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237531	NM_001253875.2(UXS1):c.925G>A (p.Asp309Asn)	UXS1 (D136N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466260	NM_001253875.2(UXS1):c.809G>A (p.Arg270His)	UXS1 (R265H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353567	NM_001253875.2(UXS1):c.762A>C (p.Glu254Asp)	UXS1 (E141D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331818	NM_001253875.2(UXS1):c.709G>A (p.Asp237Asn)	UXS1 (D64N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253345	NM_001253875.2(UXS1):c.697C>T (p.Arg233Trp)	UXS1 (R173W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591286	NM_001253875.2(UXS1):c.607C>G (p.Leu203Val)	UXS1 (L143V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239150	NM_001253875.2(UXS1):c.602G>A (p.Arg201His)	UXS1 (R28H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212283	NM_001253875.2(UXS1):c.601C>T (p.Arg201Cys)	UXS1 (R28C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616721	NM_001253875.2(UXS1):c.550A>G (p.Asn184Asp)	UXS1 (N124D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486119	NM_001253875.2(UXS1):c.400G>A (p.Val134Met)	UXS1 (V129M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188110	NM_001253875.2(UXS1):c.350G>A (p.Gly117Asp)	UXS1 (G4D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495641	NM_001253875.2(UXS1):c.184G>C (p.Glu62Gln)	UXS1 (E57Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257704	NM_001253875.2(UXS1):c.151A>G (p.Asn51Asp)	UXS1 (N51D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188108	NM_001253875.2(UXS1):c.148G>A (p.Glu50Lys)	UXS1 (E45K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622825	NM_001253875.2(UXS1):c.138G>C (p.Arg46Ser)	UXS1 (R46S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331817	NM_001253875.2(UXS1):c.102G>C (p.Trp34Cys)	UXS1 (W34C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 154199	GRCh38/hg38 2q12.2-12.3(chr2:106170872-106809420)x3	UXS1, CD8B2 +11 more	Copy number gain	See cases	GUncertain significance
Select item 2236818	NM_001253875.2(UXS1):c.35C>T (p.Ala12Val)	LOC129934515, UXS1 (A12V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188109	NM_001253875.2(UXS1):c.28G>C (p.Val10Leu)	LOC129934515, UXS1 (V10L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331819	NM_001253875.2(UXS1):c.22C>A (p.Arg8Ser)	LOC129934515, UXS1 (R8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619393	NM_001253875.2(UXS1):c.5T>C (p.Val2Ala)	LOC129934515, UXS1 (V2A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062631	GRCh37/hg19 2q12.1-12.2(chr2:105674582-106762678)x1	C2orf49, ECRG4 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1340426	GRCh37/hg19 2q12.2(chr2:106791212-107425876)x3	RGPD3, ST6GAL2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814289	GRCh37/hg19 2q12.2(chr2:106547252-106992981)x3	ECRG4, UXS1	Copy number gain	not provided	GUncertain significance
Select item 688268	GRCh37/hg19 2q12.1-12.2(chr2:102917327-106755564)x1	C2orf49, ECRG4 +14 more	Copy number loss	not provided	GUncertain significance
Select item 688244	GRCh37/hg19 2q12.2-12.3(chr2:106596090-107516533)x3	ECRG4, RGPD3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 562606	GRCh37/hg19 2q12.2(chr2:106788511-107425876)x3	RGPD3, UXS1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443673	GRCh37/hg19 2q12.2(chr2:106794872-107014384)x1	UXS1	Copy number loss	See cases	GLikely benign
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 253673	GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1	BUB1, PSD4 +53 more	Copy number loss	See cases	GPathogenic

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Items: 52