QRFPR[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC123480933, LOC123480934 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	LOC123493236, LOC123493237 +1310 more	Copy number gain	See cases	GPathogenic
Select item 148260	GRCh38/hg38 4q27(chr4:121164018-122098913)x1	ANXA5, BBS7 +26 more	Copy number loss	See cases	GUncertain significance
Select item 2345012	NM_198179.3(QRFPR):c.1238A>G (p.His413Arg)	QRFPR (H413R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234613	NM_198179.3(QRFPR):c.1217A>T (p.Glu406Val)	QRFPR (E406V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622113	NM_198179.3(QRFPR):c.1054G>A (p.Val352Ile)	QRFPR (V352I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 441009	NM_198179.3(QRFPR):c.1025del (p.Asn342fs)	QRFPR (N342fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 2173212	NM_198179.3(QRFPR):c.887T>C (p.Ile296Thr)	QRFPR (I296T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2369788	NM_198179.3(QRFPR):c.820A>G (p.Met274Val)	QRFPR (M274V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 493398	NM_198179.3(QRFPR):c.767T>G (p.Ile256Ser)	QRFPR (I256S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2228282	NM_198179.3(QRFPR):c.701A>G (p.Tyr234Cys)	QRFPR (Y234C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347229	NM_198179.3(QRFPR):c.695T>G (p.Ile232Ser)	QRFPR (I232S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378069	NM_198179.3(QRFPR):c.631C>G (p.Gln211Glu)	QRFPR (Q211E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458741	NM_198179.3(QRFPR):c.493A>G (p.Met165Val)	QRFPR (M165V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516749	NM_198179.3(QRFPR):c.361G>T (p.Val121Leu)	QRFPR (V121L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 156931	NM_198179.3(QRFPR):c.340+11600_340+16200del	QRFPR	Deletion (intron variant)	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 2232881	NM_198179.3(QRFPR):c.222G>T (p.Lys74Asn)	QRFPR (K74N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396419	NM_198179.3(QRFPR):c.157G>A (p.Val53Met)	QRFPR (V53M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250059	NM_198179.3(QRFPR):c.134A>C (p.Lys45Thr)	QRFPR (K45T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554215	NM_198179.3(QRFPR):c.101T>C (p.Leu34Pro)	QRFPR (L34P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256394	NM_198179.3(QRFPR):c.34T>C (p.Ser12Pro)	QRFPR (S12P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 2427328	NC_000004.11:g.(?_121616266)_(124323706_?)dup	ADAD1, NDNF +17 more	Duplication	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1527119	GRCh37/hg19 4q26-28.2(chr4:116888785-129649979)	ABHD18, ADAD1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	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 1328453	GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	ABHD18, ADAD1 +48 more	Copy number loss	not provided	GPathogenic
Select item 1047888	GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	FGF2, HSPA4L +43 more	Copy number loss	Delayed speech and language development +1 more	GPathogenic
Select item 980135	GRCh37/hg19 4q27(chr4:121183810-122428870)x3	PRDM5, NDNF +2 more	Copy number gain	not provided	GUncertain significance
Select item 635942	Single allele	ADAD1, ANKRD50 +31 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 562959	GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1	ABHD18, ADAD1 +40 more	Copy number loss	not provided	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 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	AADAT, ABCE1 +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	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
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 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic

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Items: 41