ClinVar for Gene (Select 56034) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235952	GRCh38/hg38 4q31.3-32.1(chr4:153986026-156952467)	ASIC5, CTSO +45 more	Copy number loss	not provided	GUncertain significance
Select item 3210831	NM_016205.3(PDGFC):c.841G>A (p.Gly281Ser)	PDGFC (G281S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210829	NM_016205.3(PDGFC):c.59C>T (p.Thr20Ile)	PDGFC (T20I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210828	NM_016205.3(PDGFC):c.493C>A (p.Pro165Thr)	PDGFC (P165T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210827	NM_016205.3(PDGFC):c.127G>T (p.Asp43Tyr)	PDGFC (D43Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +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 3050723	NM_016205.3(PDGFC):c.93G>T (p.Gln31His)	PDGFC (Q31H)	Single nucleotide variant (missense variant +1 more)	PDGFC-related disorder	GLikely benign
Select item 3043272	NM_016205.3(PDGFC):c.546A>C (p.Pro182=)	PDGFC	Single nucleotide variant (synonymous variant +1 more)	PDGFC-related disorder	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +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 2559445	NM_016205.3(PDGFC):c.41C>G (p.Ala14Gly)	PDGFC (A14G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461076	NM_016205.3(PDGFC):c.532C>G (p.Pro178Ala)	PDGFC (P178A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454339	NM_016205.3(PDGFC):c.65C>T (p.Ala22Val)	PDGFC (A22V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402152	NM_016205.3(PDGFC):c.138T>A (p.His46Gln)	PDGFC (H46Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329964	NM_016205.3(PDGFC):c.943A>G (p.Thr315Ala)	PDGFC (T315A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322358	NM_016205.3(PDGFC):c.409G>A (p.Gly137Arg)	PDGFC (G137R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1047894	GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278)	AADAT, ANP32C +39 more	Copy number loss	Autism with high cognitive abilities	GPathogenic
Select item 814618	GRCh37/hg19 4q32.1(chr4:156578400-158404825)x1	GRIA2, GUCY1B1 +6 more	Copy number loss	not provided	GUncertain significance
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 771707	NM_016205.3(PDGFC):c.113A>G (p.Gln38Arg)	PDGFC (Q38R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 715728	NM_016205.3(PDGFC):c.855C>G (p.Ala285=)	PDGFC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
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 687887	GRCh37/hg19 4q31.3-32.1(chr4:154907679-159012980)x1	ASIC5, CTSO +15 more	Copy number loss	not provided	GUncertain significance
Select item 562986	GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3	FNIP2, MSMO1 +60 more	Copy number gain	not provided	GPathogenic
Select item 562985	GRCh37/hg19 4q31.3-32.1(chr4:154763131-158404825)x1	MAP9, LRAT +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 443800	GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3	AADAT, ACSL1 +102 more	Copy number gain	See cases	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 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	LRBA, LRIT3 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +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	HELT, HERC3 +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
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	USP38, WWC2 +142 more	Copy number gain	See cases	GPathogenic
Select item 155554	GRCh38/hg38 4q32.1-32.2(chr4:156499748-163386407)x3	LOC112939921, LOC121725192 +84 more	Copy number gain	See cases	GLikely pathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +1051 more	Copy number gain	See cases	GPathogenic
Select item 154640	GRCh38/hg38 4q32.1(chr4:156633209-157164720)x1	GLRB, LOC112939921 +3 more	Copy number loss	See cases	GUncertain significance
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807210, LOC126807211 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC126807213, LOC126807214 +1068 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC126807202, LOC126807203 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	LOC129993194, LOC129993195 +903 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 58047	GRCh38/hg38 4q32.1(chr4:156252927-160451424)x3	C4orf46, ETFDH +56 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 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 51