SFRP2[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 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 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 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 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 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 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 155550	GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3	LOC129993250, LOC129993251 +115 more	Copy number gain	See cases	GLikely pathogenic
Select item 59482	GRCh38/hg38 4q31.3-32.1(chr4:153656785-154928773)x1	DCHS2, FGA +38 more	Copy number loss	See cases	GPathogenic
Select item 3160903	NM_003013.3(SFRP2):c.872G>A (p.Arg291His)	SFRP2 (R291H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160902	NM_003013.3(SFRP2):c.799G>A (p.Glu267Lys)	SFRP2 (E267K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567547	NM_003013.3(SFRP2):c.772C>G (p.Leu258Val)	SFRP2 (L258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317857	NM_003013.3(SFRP2):c.754G>A (p.Asp252Asn)	SFRP2 (D252N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753909	NM_003013.3(SFRP2):c.675C>T (p.Asn225=)	SFRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 221956	NM_003013.3(SFRP2):c.626A>G (p.Asp209Gly)	SFRP2 (D209G)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 2287938	NM_003013.3(SFRP2):c.607A>T (p.Ile203Leu)	SFRP2 (I203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776024	NM_003013.3(SFRP2):c.584-4A>T	SFRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3317858	NM_003013.3(SFRP2):c.578A>G (p.Asp193Gly)	SFRP2 (D193G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377656	NM_003013.3(SFRP2):c.544G>T (p.Asp182Tyr)	SFRP2 (D182Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528651	NM_003013.3(SFRP2):c.539A>G (p.Asp180Gly)	SFRP2 (D180G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160901	NM_003013.3(SFRP2):c.331A>C (p.Ile111Leu)	SFRP2 (I111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776025	NM_003013.3(SFRP2):c.246G>A (p.Leu82=)	SFRP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3317855	NM_003013.3(SFRP2):c.220G>C (p.Glu74Gln)	SFRP2 (E74Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232552	NM_003013.3(SFRP2):c.205A>G (p.Met69Val)	SFRP2 (M69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317854	NM_003013.3(SFRP2):c.194G>T (p.Gly65Val)	SFRP2 (G65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160904	NM_003013.3(SFRP2):c.91C>G (p.Pro31Ala)	SFRP2 (P31A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259224	NM_003013.3(SFRP2):c.79C>G (p.Leu27Val)	SFRP2 (L27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317856	NM_003013.3(SFRP2):c.51C>G (p.Cys17Trp)	SFRP2 (C17W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489240	NM_003013.3(SFRP2):c.47A>G (p.His16Arg)	SFRP2 (H16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317853	NM_003013.3(SFRP2):c.11G>A (p.Gly4Asp)	SFRP2 (G4D)	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 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	CAMK2D, GIMD1 +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 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 980699	GRCh37/hg19 4q31.3(chr4:154306552-154914180)x3	TLR2, MND1 +3 more	Copy number gain	not provided	GLikely benign
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 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 684516	Single allele	DCHS2, MND1 +5 more	Duplication	not provided	Gnot provided
Select item 562984	GRCh37/hg19 4q31.3(chr4:154674100-154973676)x1	RNF175, SFRP2	Copy number loss	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 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

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Items: 52