ClinVar for Gene (Select 2983) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283167	NM_000857.5(GUCY1B1):c.746G>A (p.Ser249Asn)	GUCY1B1 (S181N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283166	NM_000857.5(GUCY1B1):c.722C>T (p.Pro241Leu)	GUCY1B1 (P173L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283164	NM_000857.5(GUCY1B1):c.180T>A (p.Asn60Lys)	GUCY1B1 (N40K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235952	GRCh38/hg38 4q31.3-32.1(chr4:153986026-156952467)	ASIC5, CTSO +45 more	Copy number loss	not provided	GUncertain significance
Select item 3103296	NM_000857.5(GUCY1B1):c.790A>T (p.Ser264Cys)	GUCY1B1 (S286C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103295	NM_000857.5(GUCY1B1):c.253A>G (p.Thr85Ala)	GUCY1B1 (T65A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103294	NM_000857.5(GUCY1B1):c.1832C>T (p.Thr611Ile)	GUCY1B1 (T578I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103293	NM_000857.5(GUCY1B1):c.1731T>G (p.Asn577Lys)	GUCY1B1 (N552K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103292	NM_000857.5(GUCY1B1):c.1543G>A (p.Glu515Lys)	GUCY1B1 (E447K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103291	NM_000857.5(GUCY1B1):c.1525C>G (p.Gln509Glu)	GUCY1B1 (Q531E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103289	NM_000857.5(GUCY1B1):c.1486A>C (p.Ile496Leu)	GUCY1B1 (I518L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103288	NM_000857.5(GUCY1B1):c.1480C>G (p.Arg494Gly)	GUCY1B1 (R469G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103287	NM_000857.5(GUCY1B1):c.1424T>C (p.Val475Ala)	GUCY1B1 (V407A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103286	NM_000857.5(GUCY1B1):c.1295C>T (p.Ala432Val)	GUCY1B1 (A407V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3062761	GRCh37/hg19 4q32.1(chr4:156505079-156705026)x1	GUCY1A1, GUCY1B1	Copy number loss	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 2554884	NM_000857.5(GUCY1B1):c.641G>T (p.Cys214Phe)	GUCY1B1 (C146F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549285	NM_000857.5(GUCY1B1):c.1710A>T (p.Arg570Ser)	GUCY1B1 (R537S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527797	NM_000857.5(GUCY1B1):c.1459G>A (p.Glu487Lys)	GUCY1B1 (E462K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518505	NM_000857.5(GUCY1B1):c.620G>A (p.Arg207His)	GUCY1B1 (R139H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508419	NM_000857.5(GUCY1B1):c.901A>G (p.Ile301Val)	GUCY1B1 (I281V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477414	NM_000857.5(GUCY1B1):c.61G>A (p.Val21Met)	GUCY1B1, LOC129993299 (V21M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2462805	NM_000857.5(GUCY1B1):c.1343A>G (p.Asn448Ser)	GUCY1B1 (N428S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807979	GRCh37/hg19 4q32.1(chr4:156496867-156951937)x1	ASIC5, CTSO +3 more	Copy number loss	not provided	GUncertain significance
Select item 1527132	GRCh37/hg19 4q32.1(chr4:156496866-156956631)	ASIC5, CTSO +3 more	Copy number loss	not specified	GUncertain significance
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 814618	GRCh37/hg19 4q32.1(chr4:156578400-158404825)x1	GRIA2, GUCY1B1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 814616	GRCh37/hg19 4q31.3-32.1(chr4:153061243-157994448)x1	PLRG1, CTSO +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688826	GRCh37/hg19 4q32.1(chr4:156496866-156952792)x1	ASIC5, CTSO +3 more	Copy number loss	not provided	GUncertain significance
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 687887	GRCh37/hg19 4q31.3-32.1(chr4:154907679-159012980)x1	ASIC5, CTSO +15 more	Copy number loss	not provided	GUncertain significance
Select item 685853	GRCh37/hg19 4q32.1(chr4:156678642-156745915)x3	GUCY1B1	Copy number gain	not provided	GUncertain significance
Select item 685696	GRCh37/hg19 4q32.1(chr4:156610216-156842193)x3	ASIC5, GUCY1A1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 562985	GRCh37/hg19 4q31.3-32.1(chr4:154763131-158404825)x1	MAP9, LRAT +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 443800	GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3	AADAT, ACSL1 +102 more	Copy number gain	See cases	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442937	GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1	ARFIP1, ASIC5 +36 more	Copy number loss	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	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	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	AADAT, ACSL1 +118 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic
Select item 155550	GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3	LOC129993250, LOC129993251 +115 more	Copy number gain	See cases	GLikely pathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 60201	GRCh38/hg38 4q32.1(chr4:155605468-156026047)x1	ASIC5, CTSO +6 more	Copy number loss	See cases	GUncertain significance
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 60