5910[geneid] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	ADH1A, ADH1B +123 more	Copy number loss	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 57375	GRCh38/hg38 4q22.3-23(chr4:97580187-98539015)x3	LOC121053189, LOC123477791 +8 more	Copy number gain	See cases	GUncertain significance
Select item 57892	GRCh38/hg38 4q23(chr4:97972342-100038125)x3	ADH1A, ADH1B +59 more	Copy number gain	See cases	GUncertain significance
Select item 2671875	NM_001100427.2(RAP1GDS1):c.80del (p.Leu27fs)	RAP1GDS1 (L27fs +1 more)	Deletion (frameshift variant)	Alfadhel syndrome	GPathogenic
Select item 2533035	NM_001100427.2(RAP1GDS1):c.115A>G (p.Thr39Ala)	RAP1GDS1 (T39A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3430288	NM_001100427.2(RAP1GDS1):c.125G>A (p.Ser42Asn)	RAP1GDS1 (S42N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3430291	NM_001100427.2(RAP1GDS1):c.139G>A (p.Ala47Thr)	RAP1GDS1 (A48T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513589	NM_001100427.2(RAP1GDS1):c.160T>C (p.Phe54Leu)	RAP1GDS1 (F55L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610173	NM_001100427.2(RAP1GDS1):c.163G>T (p.Ala55Ser)	RAP1GDS1 (A55S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279074	NM_001100427.2(RAP1GDS1):c.167G>A (p.Ser56Asn)	RAP1GDS1 (S56N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312733	NM_001100427.2(RAP1GDS1):c.241A>G (p.Met81Val)	RAP1GDS1 (M81V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786041	NM_001100427.2(RAP1GDS1):c.244C>A (p.Arg82=)	RAP1GDS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2654961	NM_001100427.2(RAP1GDS1):c.313G>A (p.Val105Met)	RAP1GDS1 (V105M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1712885	NM_001100427.2(RAP1GDS1):c.350G>A (p.Cys117Tyr)	RAP1GDS1 (C117Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3151509	NM_001100427.2(RAP1GDS1):c.452A>G (p.Asn151Ser)	RAP1GDS1 (N151S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475769	NM_001100427.2(RAP1GDS1):c.460C>T (p.Leu154Phe)	RAP1GDS1 (L154F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279451	NM_001100427.2(RAP1GDS1):c.461T>C (p.Leu154Pro)	RAP1GDS1 (L154P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3430290	NM_001100427.2(RAP1GDS1):c.472T>A (p.Phe158Ile)	RAP1GDS1 (F158I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151510	NM_001100427.2(RAP1GDS1):c.511T>G (p.Ser171Ala)	RAP1GDS1 (S123A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356818	NM_001100427.2(RAP1GDS1):c.533A>G (p.Asn178Ser)	RAP1GDS1 (N130S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151511	NM_001100427.2(RAP1GDS1):c.541G>A (p.Val181Ile)	RAP1GDS1 (V181I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595387	NM_001100427.2(RAP1GDS1):c.707T>C (p.Ile236Thr)	RAP1GDS1 (I236T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523245	NM_001100427.2(RAP1GDS1):c.710A>G (p.Glu237Gly)	RAP1GDS1 (E146G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532251	NM_001100427.2(RAP1GDS1):c.729G>T (p.Met243Ile)	RAP1GDS1 (M152I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217870	NM_001100427.2(RAP1GDS1):c.824A>T (p.Gln275Leu)	RAP1GDS1 (Q275L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151512	NM_001100427.2(RAP1GDS1):c.862G>C (p.Glu288Gln)	RAP1GDS1 (E197Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314383	NM_001100427.2(RAP1GDS1):c.897A>C (p.Leu299Phe)	RAP1GDS1 (L250F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3430292	NM_001100427.2(RAP1GDS1):c.916A>C (p.Met306Leu)	RAP1GDS1 (M258L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459860	NM_001100427.2(RAP1GDS1):c.1018A>G (p.Ile340Val)	RAP1GDS1 (I340V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3368464	NM_001100427.2(RAP1GDS1):c.1039+1G>A	RAP1GDS1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3430293	NM_001100427.2(RAP1GDS1):c.1126A>G (p.Thr376Ala)	RAP1GDS1 (T377A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042329	NM_001100427.2(RAP1GDS1):c.1144C>T (p.Leu382=)	RAP1GDS1	Single nucleotide variant (synonymous variant)	RAP1GDS1-related disorder	GLikely benign
Select item 2504929	NM_001100427.2(RAP1GDS1):c.1158A>C (p.Arg386Ser)	RAP1GDS1 (R295S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2478881	NM_001100427.2(RAP1GDS1):c.1241A>G (p.Glu414Gly)	RAP1GDS1 (E415G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479443	NM_001100427.2(RAP1GDS1):c.1244T>A (p.Met415Lys)	RAP1GDS1 (M415K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065056	NM_001100427.2(RAP1GDS1):c.1300+1G>A	RAP1GDS1	Single nucleotide variant (splice donor variant)	Alfadhel syndrome	GUncertain significance
Select item 2588558	NM_001100427.2(RAP1GDS1):c.1345C>T (p.Arg449Cys)	RAP1GDS1 (R358C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396453	NM_001100427.2(RAP1GDS1):c.1359G>T (p.Trp453Cys)	RAP1GDS1 (W362C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334172	NM_001100427.2(RAP1GDS1):c.1441-1G>A	RAP1GDS1	Single nucleotide variant (splice acceptor variant)	Alfadhel syndrome	GPathogenic
Select item 2205196	NM_001100427.2(RAP1GDS1):c.1534G>C (p.Val512Leu)	RAP1GDS1 (V463L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304123	NM_001100427.2(RAP1GDS1):c.1648G>A (p.Glu550Lys)	RAP1GDS1 (E502K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151508	NM_001100427.2(RAP1GDS1):c.1658A>G (p.Tyr553Cys)	RAP1GDS1 (Y504C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358779	NM_001100427.2(RAP1GDS1):c.1688T>C (p.Met563Thr)	RAP1GDS1 (M515T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3430289	NM_001100427.2(RAP1GDS1):c.1741G>A (p.Val581Ile)	RAP1GDS1 (V581I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462486	NM_001100427.2(RAP1GDS1):c.1753C>T (p.Arg585Cys)	RAP1GDS1 (R586C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312734	NM_001100427.2(RAP1GDS1):c.1792C>T (p.Leu598Phe)	RAP1GDS1 (L507F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235189	NM_001100427.2(RAP1GDS1):c.1814T>G (p.Val605Gly)	RAP1GDS1 (V556G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062757	GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1	ADH1A, ADH1B +39 more	Copy number loss	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	AADAT, AASDH +537 more	Copy number gain	not provided	GPathogenic
Select item 1808916	GRCh37/hg19 4q23(chr4:98801255-99413684)x1	RAP1GDS1, STPG2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1527112	GRCh37/hg19 4q23(chr4:99255645-99366595)	RAP1GDS1	Copy number loss	not specified	GUncertain significance
Select item 1340302	GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	ADH1A, ADH1B +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 980109	GRCh37/hg19 4q22.2-24(chr4:94692345-101308220)x1	RAP1GDS1, UNC5C +26 more	Copy number loss	not provided	GLikely pathogenic
Select item 814589	GRCh37/hg19 4q22.3-23(chr4:98586983-99312157)x3	STPG2, RAP1GDS1	Copy number gain	not provided	GUncertain significance
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 443286	GRCh37/hg19 4q22.1-24(chr4:92201567-103043808)x1	ADH1A, ADH1B +30 more	Copy number loss	See cases	GPathogenic
Select item 442315	GRCh37/hg19 4q22.3-23(chr4:97419923-99923880)x3	EIF4E, METAP1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 442276	GRCh37/hg19 4q22.3-23(chr4:98455212-99228091)x3	RAP1GDS1, STPG2	Copy number gain	See cases	GLikely benign
Select item 442247	GRCh37/hg19 4q23(chr4:99024921-99276097)x0	RAP1GDS1, STPG2	Copy number loss	See cases	GUncertain significance
Select item 441914	GRCh37/hg19 4q23(chr4:99288284-99846320)x3	EIF4E, RAP1GDS1 +1 more	Copy number gain	See cases	GLikely benign
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 394880	GRCh37/hg19 4q22.3-23(chr4:98570095-99262279)x4	RAP1GDS1, STPG2	Copy number gain	See cases	GLikely benign
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 68