ClinVar for Gene (Select 5480) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309170	NM_000943.5(PPIC):c.323G>A (p.Gly108Glu)	LOC126807494, PPIC +1 more (G108E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217188	NM_000943.5(PPIC):c.634T>G (p.Trp212Gly)	PPIC, SNX24 (W212G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217187	NM_000943.5(PPIC):c.568A>G (p.Asn190Asp)	PPIC, SNX24 (N190D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3217186	NM_000943.5(PPIC):c.370C>G (p.Leu124Val)	PPIC, SNX24 (L124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2655658	NM_000943.5(PPIC):c.148del (p.Asp50fs)	LOC126807494, PPIC (D50fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2535131	NM_000943.5(PPIC):c.224C>T (p.Thr75Ile)	LOC126807494, PPIC +1 more (T75I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476519	NM_000943.5(PPIC):c.67T>C (p.Ser23Pro)	PPIC (S23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464570	NM_000943.5(PPIC):c.196A>G (p.Thr66Ala)	LOC126807494, PPIC (T66A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410515	NM_000943.5(PPIC):c.100C>A (p.Pro34Thr)	PPIC (P34T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397644	NM_000943.5(PPIC):c.555C>A (p.Asp185Glu)	PPIC, SNX24 (D185E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387384	NM_000943.5(PPIC):c.389G>A (p.Gly130Glu)	PPIC, SNX24 (G130E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315562	NM_000943.5(PPIC):c.628G>A (p.Ala210Thr)	PPIC, SNX24 (A210T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809359	GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1	ALDH7A1, AP3S1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 1240005	dup(5)(q23.2q23.2)	LINC02201, LOC101927357 +6 more	Duplication	Lower urinary tract obstruction, congenital	GUncertain significance
Select item 814742	GRCh37/hg19 5q23.2(chr5:122143334-123430731)x3	CEP120, CSNK1G3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 685497	GRCh37/hg19 5q23.1-23.2(chr5:120785278-122419820)x1	FTMT, LOX +6 more	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	APBB3, CCDC112 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 443241	GRCh37/hg19 5q23.1-23.2(chr5:121108870-122778090)x4	CEP120, FTMT +8 more	Copy number gain	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441762	GRCh37/hg19 5q23.1-23.2(chr5:120032407-123896355)x1	CEP120, CSNK1G3 +9 more	Copy number loss	See cases	GUncertain significance
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 395290	GRCh37/hg19 5q22.1-23.2(chr5:110407606-122522885)x1	TRIM36, TSLP +41 more	Copy number loss	See cases	GPathogenic
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC129994229, LOC129994230 +688 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 147446	GRCh38/hg38 5q23.2(chr5:122479268-126833168)x1	ALDH7A1, CEP120 +86 more	Copy number loss	See cases	GUncertain significance
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 145546	GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1	AP3S1, ARL14EPL +228 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58355	GRCh38/hg38 5q23.1-23.2(chr5:120739630-126823984)x1	ALDH7A1, CEP120 +105 more	Copy number loss	See cases	GPathogenic
Select item 57490	GRCh38/hg38 5q23.1-23.2(chr5:120695675-124525372)x1	CEP120, CSNK1G3 +55 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 40