DUSP13B[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 3235488	NM_001363514.2(DUSP13B):c.992C>T (p.Thr331Met)	DUSP13B (T195M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295110	NM_001363514.2(DUSP13B):c.985C>T (p.Arg329Trp)	DUSP13B (R193W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734156	NM_001363514.2(DUSP13B):c.977G>A (p.Arg326Gln)	DUSP13B (R190Q +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780869	NM_001363514.2(DUSP13B):c.976C>G (p.Arg326Gly)	DUSP13B (R240G +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2271419	NM_001363514.2(DUSP13B):c.958C>G (p.Leu320Val)	DUSP13B (L234V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235487	NM_001363514.2(DUSP13B):c.953G>A (p.Arg318Gln)	DUSP13B (R182Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204198	NM_001363514.2(DUSP13B):c.952C>T (p.Arg318Trp)	DUSP13B (R318W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235486	NM_001363514.2(DUSP13B):c.932G>T (p.Cys311Phe)	DUSP13B (C175F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334196	NM_001363514.2(DUSP13B):c.923G>A (p.Arg308His)	DUSP13B (R172H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1179558	NM_001363514.2(DUSP13B):c.875G>A (p.Cys292Tyr)	DUSP13B (C156Y +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3235484	NM_001363514.2(DUSP13B):c.860C>A (p.Ala287Asp)	DUSP13B (A151D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274046	NM_001363514.2(DUSP13B):c.839G>A (p.Arg280His)	DUSP13B (R144H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235483	NM_001363514.2(DUSP13B):c.838C>T (p.Arg280Cys)	DUSP13B (R144C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304012	NM_001363514.2(DUSP13B):c.826A>T (p.Met276Leu)	DUSP13B (M276L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235482	NM_001363514.2(DUSP13B):c.806G>A (p.Arg269His)	DUSP13B (R133H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235481	NM_001363514.2(DUSP13B):c.805C>T (p.Arg269Cys)	DUSP13B (R133C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305254	NM_001363514.2(DUSP13B):c.793G>A (p.Val265Ile)	DUSP13B (V129I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2292646	NM_001363514.2(DUSP13B):c.785C>G (p.Ala262Gly)	DUSP13B (A126G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361596	NM_001363514.2(DUSP13B):c.770G>A (p.Arg257Gln)	DUSP13B (R121Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235480	NM_001363514.2(DUSP13B):c.767C>A (p.Ala256Asp)	DUSP13B (A120D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235479	NM_001363514.2(DUSP13B):c.654G>C (p.Lys218Asn)	DUSP13B (K132N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292009	NM_001363514.2(DUSP13B):c.628C>G (p.His210Asp)	DUSP13B (H74D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235478	NM_001363514.2(DUSP13B):c.615G>T (p.Gln205His)	DUSP13B (Q119H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235477	NM_001363514.2(DUSP13B):c.595G>C (p.Asp199His)	DUSP13B (D113H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347946	NM_001363514.2(DUSP13B):c.521G>A (p.Arg174His)	DUSP13B (R88H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345348	NM_001363514.2(DUSP13B):c.482C>A (p.Pro161Gln)	DUSP13B (P25Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215657	NM_001363514.2(DUSP13B):c.482C>T (p.Pro161Leu)	DUSP13B (P118L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235476	NM_001363514.2(DUSP13B):c.437G>A (p.Arg146Gln)	DUSP13B (R103Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786165	NM_001007273.2(DUSP13B):c.143C>T (p.Ala48Val)	DUSP13B, SAMD8 (A48V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 780870	NM_001007273.2(DUSP13B):c.105C>T (p.Val35=)	DUSP13B, SAMD8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2640609	NM_001007273.2(DUSP13B):c.-153C>G	DUSP13A, DUSP13B +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3063159	GRCh37/hg19 10q22.2(chr10:76780949-77088796)x3	COMTD1, DUSP13B +4 more	Copy number gain	not specified	GUncertain significance
Select item 3063152	GRCh37/hg19 10q22.2(chr10:76733580-77200441)x3	COMTD1, DUSP13B +5 more	Copy number gain	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2425798	NC_000010.10:g.(?_76736352)_(77198536_?)dup	COMTD1, DUSP13B +5 more	Duplication	Genitopatellar syndrome	GLikely benign
Select item 2425796	NC_000010.10:g.(?_75671314)_(79799964_?)dup	ADK, AP3M1 +15 more	Duplication	Genitopatellar syndrome	GUncertain significance
Select item 2425795	NC_000010.10:g.(?_76349020)_(78317046_?)del	ADK, COMTD1 +7 more	Deletion	Genitopatellar syndrome	GPathogenic
Select item 1809184	GRCh37/hg19 10q22.2(chr10:76763852-77101087)x3	COMTD1, DUSP13B +4 more	Copy number gain	not provided	GUncertain significance
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 815360	GRCh37/hg19 10q22.2(chr10:76774010-77101087)x3	COMTD1, DUSP13B +4 more	Copy number gain	not provided	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563702	GRCh37/hg19 10q22.2(chr10:76779297-76888826)x1	DUSP13B, DUSP29 +2 more	Copy number loss	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 395153	GRCh37/hg19 10q22.2-22.3(chr10:75542067-79428995)x1	ADK, AP3M1 +16 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 53