2250[geneid] - ClinVar

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Items: 59

	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	BTC, CABS1 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +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	LOC129992714, LOC129992715 +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	BMP3, CDS1 +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 2281388	NM_004464.4(FGF5):c.64G>A (p.Gly22Arg)	FGF5 (G22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358689	NM_004464.4(FGF5):c.83C>T (p.Pro28Leu)	FGF5 (P28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046438	NM_004464.4(FGF5):c.84C>T (p.Pro28=)	FGF5	Single nucleotide variant (synonymous variant)	FGF5-related disorder	GLikely benign
Select item 3278645	NM_004464.4(FGF5):c.101C>A (p.Pro34His)	FGF5 (P34H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319875	NM_004464.4(FGF5):c.106G>A (p.Ala36Thr)	FGF5 (A36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094743	NM_004464.4(FGF5):c.145A>G (p.Ser49Gly)	FGF5 (S49G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278644	NM_004464.4(FGF5):c.154A>G (p.Ser52Gly)	FGF5 (S52G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 141411	NM_004464.4(FGF5):c.160_161del (p.Met54fs)	FGF5 (M54fs)	Deletion (frameshift variant)	Trichomegaly	GPathogenic
Select item 3045141	NM_004464.4(FGF5):c.207C>T (p.Ser69=)	FGF5	Single nucleotide variant (synonymous variant)	FGF5-related disorder	GLikely benign
Select item 2351723	NM_004464.4(FGF5):c.236T>G (p.Phe79Cys)	FGF5 (F79C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786515	NM_004464.4(FGF5):c.243G>T (p.Trp81Cys)	FGF5 (W81C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2216402	NM_004464.4(FGF5):c.310T>C (p.Tyr104His)	FGF5 (Y104H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209176	NM_004464.4(FGF5):c.339C>G (p.His113Gln)	FGF5 (H113Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094744	NM_004464.4(FGF5):c.398T>C (p.Ile133Thr)	FGF5 (I133T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2226070	NM_004464.4(FGF5):c.406G>A (p.Val136Ile)	FGF5 (V136I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2347482	NM_004464.4(FGF5):c.428C>T (p.Ala143Val)	FGF5 (A143V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 141410	NM_004464.4(FGF5):c.459+1del	FGF5	Deletion (intron variant +1 more)	Trichomegaly	GPathogenic
Select item 2547361	NM_004464.4(FGF5):c.476A>T (p.Asp159Val)	FGF5 (D16V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 141413	NM_004464.4(FGF5):c.520T>C (p.Tyr174His)	FGF5 (Y174H +1 more)	Single nucleotide variant (missense variant +1 more)	Trichomegaly	GPathogenic
Select item 2205266	NM_004464.4(FGF5):c.523G>T (p.Ala175Ser)	FGF5 (A32S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259731	NM_004464.4(FGF5):c.545A>G (p.Glu182Gly)	FGF5 (E182G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617552	NM_004464.4(FGF5):c.550A>C (p.Thr184Pro)	FGF5 (T41P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094745	NM_004464.4(FGF5):c.599G>A (p.Arg200Gln)	FGF5 (R57Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350292	NM_004464.4(FGF5):c.610C>T (p.Pro204Ser)	FGF5 (P204S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481120	NM_004464.4(FGF5):c.622C>A (p.Pro208Thr)	FGF5 (P208T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616850	NM_004464.4(FGF5):c.689C>T (p.Thr230Met)	FGF5 (T230M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278008	NM_004464.4(FGF5):c.738G>C (p.Lys246Asn)	FGF5 (K246N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492427	NM_004464.4(FGF5):c.757C>T (p.Arg253Trp)	FGF5 (R253W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3053636	NM_004464.4(FGF5):c.*6C>T	FGF5	Single nucleotide variant (3 prime UTR variant)	FGF5-related disorder	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685973	GRCh37/hg19 4q21.21(chr4:81138878-81347692)x3	CFAP299, FGF5	Copy number gain	not provided	GUncertain significance
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 814575	GRCh37/hg19 4q21.21(chr4:81191045-81563339)x1	CFAP299, FGF5	Copy number loss	not provided	GUncertain significance
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 562936	GRCh37/hg19 4q21.21(chr4:81186787-81563339)x1	FGF5, CFAP299	Copy number loss	not provided	GLikely benign
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 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 394278	GRCh37/hg19 4q21.21(chr4:81180091-81686491)x1	CFAP299, FGF5	Copy number loss	See cases	GUncertain significance

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Items: 59