5593[geneid] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	FDCSP, FGF5 +330 more	Deletion	See cases	GPathogenic
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 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992733, LOC129992734 +236 more	Copy number loss	See cases	GPathogenic
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 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 146518	GRCh38/hg38 4q21.21-21.22(chr4:79742612-83153725)x1	ANTXR2, BMP3 +83 more	Copy number loss	See cases	GUncertain significance
Select item 147709	GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1	ABRAXAS1, ANTXR2 +137 more	Copy number loss	See cases	GPathogenic
Select item 151718	GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1	ABRAXAS1, AFF1 +146 more	Copy number loss	See cases	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 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 148797	GRCh38/hg38 4q21.21-21.23(chr4:80908016-84329610)x1	ABRAXAS1, BMP3 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 59456	GRCh38/hg38 4q21.21-21.23(chr4:81061483-83332595)x1	COPS4, COQ2 +68 more	Copy number loss	See cases	GPathogenic
Select item 1326259	NM_006259.3(PRKG2):c.2282dup (p.Asp761fs)	PRKG2 (D281fs +4 more)	Duplication (frameshift variant)	Spondylometaphyseal dysplasia, pagnamenta type	GPathogenic
Select item 2975970	NM_006259.3(PRKG2):c.2127-61CCTT[14]	PRKG2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2975909	NM_006259.3(PRKG2):c.2127-61CCTT[15]	PRKG2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2798131	NM_006259.3(PRKG2):c.2127-61CCTT[13]	PRKG2	Microsatellite (intron variant)	not provided	GBenign
Select item 1711591	NM_006259.3(PRKG2):c.2126+5A>G	PRKG2	Single nucleotide variant (intron variant)	PRKG2-related condition +1 more	GLikely benign
Select item 3043457	NM_006259.3(PRKG2):c.1941-10_1941-7del	PRKG2	Deletion (intron variant)	PRKG2-related condition	GLikely benign
Select item 3050415	NM_006259.3(PRKG2):c.1929C>T (p.Leu643=)	PRKG2	Single nucleotide variant (synonymous variant)	PRKG2-related condition	GLikely benign
Select item 2164608	NM_006259.3(PRKG2):c.1904_1905insCACCTCTTCAGAGAAATGCAAAAATAACCTAACTAGTGATAAAGTGTATATACTTTAAGAGCGTA (p.Ser635_Leu636insThrSerSerGluLysCysLysAsnAsnLeuThrSerAspLysValTyrIleLeuTer)	PRKG2	Insertion (nonsense +1 more)	not provided	GPathogenic
Select item 2171670	NM_006259.3(PRKG2):c.1901_1902insCAGCCACCTCTTCAGAGAAATGCAAAAATAACCTAACTAGTGATAAAGTGTATATACTTTAAGAGC (p.Trp634delinsCysSerHisLeuPheArgGluMetGlnLysTer)	PRKG2	Insertion (nonsense)	not provided	GPathogenic
Select item 2285172	NM_006259.3(PRKG2):c.1793C>T (p.Ala598Val)	PRKG2 (A118V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1326257	NM_006259.3(PRKG2):c.1705C>T (p.Arg569Ter)	PRKG2 (R569* +4 more)	Single nucleotide variant (nonsense)	Acromesomelic dysplasia 4	GPathogenic
Select item 2312340	NM_006259.3(PRKG2):c.1642T>A (p.Phe548Ile)	PRKG2 (F128I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611121	NM_006259.3(PRKG2):c.1552C>T (p.Arg518Cys)	PRKG2 (R518C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568595	NM_006259.3(PRKG2):c.1543A>C (p.Lys515Gln)	PRKG2 (K486Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331128	NM_006259.3(PRKG2):c.1450A>G (p.Ile484Val)	PRKG2 (I35V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501812	NM_006259.3(PRKG2):c.1409T>G (p.Val470Gly)	PRKG2 (V21G +3 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 4	GLikely pathogenic
Select item 2209142	NM_006259.3(PRKG2):c.1265C>T (p.Ser422Phe)	PRKG2 (S2F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513606	NM_006259.3(PRKG2):c.1250C>T (p.Ala417Val)	PRKG2 (A417V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3043024	NM_006259.3(PRKG2):c.1173C>T (p.Val391=)	PRKG2	Single nucleotide variant (5 prime UTR variant +1 more)	PRKG2-related condition	GLikely benign
Select item 2502276	NM_006259.3(PRKG2):c.1154+1G>A	PRKG2	Single nucleotide variant (splice donor variant)	Acromesomelic dysplasia 4	GPathogenic
Select item 3034773	NM_006259.3(PRKG2):c.1059A>G (p.Glu353=)	PRKG2	Single nucleotide variant (5 prime UTR variant +1 more)	PRKG2-related condition	GBenign
Select item 2370382	NM_006259.3(PRKG2):c.1007G>A (p.Ser336Asn)	PRKG2 (S336N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516739	NM_006259.3(PRKG2):c.898G>T (p.Asp300Tyr)	PRKG2, PRKG2-AS1 (D300Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045689	NM_006259.3(PRKG2):c.882A>G (p.Lys294=)	PRKG2, PRKG2-AS1	Single nucleotide variant (synonymous variant)	PRKG2-related condition	GLikely benign
Select item 2477643	NM_006259.3(PRKG2):c.836A>T (p.Asn279Ile)	PRKG2, PRKG2-AS1 (N279I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3059189	NM_006259.3(PRKG2):c.717T>C (p.Asn239=)	PRKG2, PRKG2-AS1	Single nucleotide variant (synonymous variant)	PRKG2-related condition	GBenign
Select item 3056270	NM_006259.3(PRKG2):c.696G>A (p.Gly232=)	PRKG2, PRKG2-AS1	Single nucleotide variant (synonymous variant)	PRKG2-related condition	GLikely benign
Select item 3060693	NM_006259.3(PRKG2):c.629-9G>A	PRKG2, PRKG2-AS1	Single nucleotide variant (intron variant)	PRKG2-related condition	GBenign
Select item 2389900	NM_006259.3(PRKG2):c.611A>G (p.His204Arg)	PRKG2-AS1, PRKG2 (H204R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250513	NM_006259.3(PRKG2):c.550A>G (p.Met184Val)	PRKG2-AS1, PRKG2 (M184V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041869	NM_006259.3(PRKG2):c.540G>A (p.Met180Ile)	PRKG2, PRKG2-AS1 (M180I)	Single nucleotide variant (missense variant)	PRKG2-related condition	GLikely benign
Select item 2259894	NM_006259.3(PRKG2):c.532A>C (p.Lys178Gln)	PRKG2, PRKG2-AS1 (K178Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1326258	NM_006259.3(PRKG2):c.491dup (p.Asn164fs)	PRKG2, PRKG2-AS1 (N164fs)	Duplication (frameshift variant)	Acromesomelic dysplasia 4	GPathogenic
Select item 2341338	NM_006259.3(PRKG2):c.163C>T (p.Arg55Trp)	PRKG2 (R55W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598273	NM_006259.3(PRKG2):c.140G>A (p.Arg47Gln)	PRKG2 (R47Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212764	NM_006259.3(PRKG2):c.100G>A (p.Glu34Lys)	PRKG2 (E34K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056280	NM_006259.3(PRKG2):c.81G>C (p.Arg27=)	PRKG2	Single nucleotide variant (synonymous variant)	PRKG2-related condition	GBenign
Select item 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	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 1527103	GRCh37/hg19 4q21.21-22.1(chr4:81054789-90667421)	ABCG2, ABRAXAS1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1527102	GRCh37/hg19 4q21.21-21.22(chr4:80865788-82927188)	ANTXR2, BMP3 +5 more	Copy number loss	not specified	GUncertain significance
Select item 1527100	GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225)	ABCG2, ABRAXAS1 +63 more	Copy number loss	not specified	GPathogenic
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1341211	GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1	ABCG2, ABRAXAS1 +58 more	Copy number loss	not provided	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 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 687488	GRCh37/hg19 4q21.21-21.22(chr4:80199183-84074906)x1	ANTXR2, BMP3 +18 more	Copy number loss	not provided	GPathogenic
Select item 686225	GRCh37/hg19 4q21.1-21.23(chr4:78769297-84968832)x1	ABRAXAS1, ANTXR2 +29 more	Copy number loss	not provided	GPathogenic
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 638111	GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1	GPRIN3, HELQ +57 more	Copy number loss	See cases	GPathogenic
Select item 625784	GRCh37/hg19 4q21.21-22.1(chr4:82043901-88334228)	ABRAXAS1, AFF1 +28 more	Copy number loss	not provided	GPathogenic
Select item 562937	GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1	ABCG2, ABRAXAS1 +60 more	Copy number loss	not provided	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

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Items: 70