ClinVar for Gene (Select 7365) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685970	GRCh37/hg19 4q13.1-13.3(chr4:63684557-71480358)x3	AMBN, AMTN +38 more	Copy number gain	not provided	GPathogenic
Select item 2685114	GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1	ADAMTS3, AFM +58 more	Copy number loss	not provided	GPathogenic
Select item 2685109	GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1	ADGRL3, AMBN +52 more	Copy number loss	not provided	GPathogenic
Select item 2654782	NM_001075.6(UGT2B10):c.1203T>C (p.Asn401=)	UGT2B10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605986	NM_001075.6(UGT2B10):c.583G>A (p.Val195Ile)	UGT2B10 (V195I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595643	NM_001075.6(UGT2B10):c.1543T>C (p.Phe515Leu)	UGT2B10 (F267L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591986	NM_001075.6(UGT2B10):c.1194A>C (p.Gln398His)	UGT2B10 (Q398H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540873	NM_001075.6(UGT2B10):c.731C>G (p.Thr244Arg)	UGT2B10 (T244R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530910	NM_001075.6(UGT2B10):c.406A>C (p.Met136Leu)	UGT2B10 (M136L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523234	NM_001075.6(UGT2B10):c.62G>A (p.Ser21Asn)	UGT2B10 (S21N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516021	NM_001075.6(UGT2B10):c.451G>T (p.Ala151Ser)	UGT2B10 (A151S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513082	NM_001075.6(UGT2B10):c.1570A>G (p.Lys524Glu)	UGT2B10 (K276E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510000	NM_001075.6(UGT2B10):c.773G>A (p.Arg258Gln)	UGT2B10 (R10Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488332	NM_001075.6(UGT2B10):c.808T>G (p.Leu270Val)	UGT2B10 (L22V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482239	NM_001075.6(UGT2B10):c.400A>C (p.Lys134Gln)	UGT2B10 (K134Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475740	NM_001075.6(UGT2B10):c.664T>C (p.Trp222Arg)	UGT2B10 (W222R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470513	NM_001075.6(UGT2B10):c.1394T>C (p.Phe465Ser)	UGT2B10 (F465S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457098	NM_001075.6(UGT2B10):c.347G>C (p.Trp116Ser)	UGT2B10 (W116S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396380	NM_001075.6(UGT2B10):c.580C>T (p.Pro194Ser)	UGT2B10 (P194S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396163	NM_001075.6(UGT2B10):c.675A>G (p.Ile225Met)	UGT2B10 (I225M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394487	NM_001075.6(UGT2B10):c.1439A>G (p.His480Arg)	UGT2B10 (H480R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358449	NM_001075.6(UGT2B10):c.857C>T (p.Pro286Leu)	UGT2B10 (P286L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358204	NM_001075.6(UGT2B10):c.1328A>G (p.Lys443Arg)	UGT2B10 (K359R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352358	NM_001075.6(UGT2B10):c.1243G>A (p.Asp415Asn)	UGT2B10 (D167N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352212	NM_001075.6(UGT2B10):c.448G>C (p.Asp150His)	UGT2B10 (D150H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342048	NM_001075.6(UGT2B10):c.1013T>A (p.Phe338Tyr)	UGT2B10 (F338Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304436	NM_001075.6(UGT2B10):c.803C>T (p.Pro268Leu)	UGT2B10 (P184L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291089	NM_001075.6(UGT2B10):c.665G>C (p.Trp222Ser)	UGT2B10 (W222S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2280104	NM_001075.6(UGT2B10):c.337G>A (p.Glu113Lys)	UGT2B10 (E113K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254273	NM_001075.6(UGT2B10):c.379A>G (p.Lys127Glu)	UGT2B10 (K127E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249768	NM_001075.6(UGT2B10):c.388G>C (p.Val130Leu)	UGT2B10 (V130L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249423	NM_001075.6(UGT2B10):c.704A>C (p.Tyr235Ser)	UGT2B10 (Y235S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241728	NM_001075.6(UGT2B10):c.1492G>T (p.Ala498Ser)	UGT2B10 (A498S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241371	NM_001075.6(UGT2B10):c.317T>C (p.Leu106Ser)	UGT2B10 (L106S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2235555	NM_001075.6(UGT2B10):c.1018G>T (p.Gly340Trp)	UGT2B10 (G256W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230901	NM_001075.6(UGT2B10):c.1040G>A (p.Gly347Asp)	UGT2B10 (G263D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220185	NM_001075.6(UGT2B10):c.32T>C (p.Ile11Thr)	UGT2B10 (I11T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215199	NM_001075.6(UGT2B10):c.1032T>A (p.Asp344Glu)	UGT2B10 (D260E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211051	NM_001075.6(UGT2B10):c.1403G>A (p.Arg468His)	UGT2B10 (R384H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808523	GRCh37/hg19 4q13.2-13.3(chr4:69661413-70724847)x3	UGT2A1, UGT2A2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1684642	NC_000004.12:g.67833055_82716065del	FDCSP, FGF5 +330 more	Deletion	See cases	GPathogenic
Select item 1527090	GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517)	ADAMTS3, ADGRL3 +58 more	Copy number loss	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC116158492 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 814562	GRCh37/hg19 4q13.2(chr4:67392949-69837294)x3	CENPC, GNRHR +12 more	Copy number gain	not provided	GUncertain significance
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562925	GRCh37/hg19 4q13.2(chr4:69661412-70117965)x3	UGT2A3, UGT2B10 +2 more	Copy number gain	not provided	GLikely benign
Select item 562920	GRCh37/hg19 4q13.1-13.3(chr4:64705501-73469716)x3	ADAMTS3, AMBN +49 more	Copy number gain	not provided	GPathogenic
Select item 443262	GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	ADAMTS3, AFM +75 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441639	GRCh37/hg19 4q13.2(chr4:69256219-69908707)x3	TMPRSS11E, UGT2A3 +3 more	Copy number gain	See cases	GUncertain significance
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 226165	GRCh37/hg19 4q13.2(chr4:69668636-69713319)	UGT2B10	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 155511	GRCh38/hg38 4q13.2(chr4:68501374-69255507)x3	LOC105377267, LOC111589210 +11 more	Copy number gain	See cases	GUncertain significance
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992716, LOC129992717 +533 more	Copy number gain	See cases	GPathogenic
Select item 155054	GRCh38/hg38 4q13.2-13.3(chr4:68799852-69853815)x3	LOC105377267, LOC111589210 +22 more	Copy number gain	See cases	GUncertain significance
Select item 154298	GRCh38/hg38 4q13.2-13.3(chr4:67744481-70267689)x1	CSN1S1, CSN2 +43 more	Copy number loss	See cases	GUncertain significance
Select item 152287	GRCh38/hg38 4q13.2-13.3(chr4:68796335-69850009)x3	LOC105377267, LOC111589210 +22 more	Copy number gain	See cases	GUncertain significance
Select item 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 147894	GRCh38/hg38 4q13.2-13.3(chr4:68537073-69610311)x3	LOC105377267, LOC111589210 +18 more	Copy number gain	See cases	GBenign
Select item 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 57091	GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1	AMBN, AMTN +76 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 79