ClinVar for Gene (Select 10144) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250620	NM_014883.4(FAM13A):c.1754A>C (p.Gln585Pro)	FAM13A (Q231P +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3091849	NM_014883.4(FAM13A):c.533T>C (p.Val178Ala)	FAM13A (V178A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091848	NM_014883.4(FAM13A):c.322G>A (p.Gly108Ser)	FAM13A (G108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091847	NM_014883.4(FAM13A):c.271C>G (p.Gln91Glu)	FAM13A (Q91E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091845	NM_014883.4(FAM13A):c.2413A>G (p.Lys805Glu)	FAM13A (K465E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091844	NM_014883.4(FAM13A):c.2348A>T (p.Lys783Met)	FAM13A (K443M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091843	NM_014883.4(FAM13A):c.2251G>C (p.Glu751Gln)	FAM13A (E751Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091842	NM_014883.4(FAM13A):c.209C>T (p.Thr70Met)	FAM13A (T70M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091841	NM_014883.4(FAM13A):c.2006C>G (p.Thr669Arg)	FAM13A (T343R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091840	NM_014883.4(FAM13A):c.184G>A (p.Val62Met)	FAM13A (V62M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091839	NM_014883.4(FAM13A):c.1634G>T (p.Arg545Ile)	FAM13A (R191I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091838	NM_014883.4(FAM13A):c.1266A>T (p.Arg422Ser)	FAM13A (R68S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3062760	GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3	ABCG2, AFF1 +40 more	Copy number gain	not specified	GLikely pathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	ARHGEF38, ARL9 +537 more	Copy number gain	not provided	GPathogenic
Select item 2621887	NM_014883.4(FAM13A):c.223A>G (p.Thr75Ala)	FAM13A (T75A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603961	NM_014883.4(FAM13A):c.595A>G (p.Asn199Asp)	FAM13A (N199D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599756	NM_014883.4(FAM13A):c.1226G>A (p.Arg409His)	FAM13A (R409H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594103	NM_014883.4(FAM13A):c.1770C>G (p.Asp590Glu)	FAM13A (D236E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2558756	NM_014883.4(FAM13A):c.886G>C (p.Val296Leu)	FAM13A (V296L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545886	NM_014883.4(FAM13A):c.1242G>T (p.Glu414Asp)	FAM13A (E414D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529187	NM_014883.4(FAM13A):c.2716T>A (p.Phe906Ile)	FAM13A (F552I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519594	NM_014883.4(FAM13A):c.47G>A (p.Arg16Gln)	FAM13A (R16Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483919	NM_014883.4(FAM13A):c.407G>A (p.Arg136Gln)	FAM13A (R136Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467172	NM_014883.4(FAM13A):c.1814G>A (p.Arg605His)	FAM13A (R279H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456270	NM_014883.4(FAM13A):c.1127A>G (p.Gln376Arg)	FAM13A (Q22R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455182	NM_014883.4(FAM13A):c.304G>A (p.Val102Met)	FAM13A (V102M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455092	NM_014883.4(FAM13A):c.2791C>T (p.Pro931Ser)	FAM13A (P591S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431125	NM_014883.4(FAM13A):c.1459-515_1459-514inv	FAM13A	Inversion (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2407466	NM_014883.4(FAM13A):c.2351G>A (p.Arg784Gln)	FAM13A (R784Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399687	NM_014883.4(FAM13A):c.1403G>A (p.Arg468His)	FAM13A (R142H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399594	NM_014883.4(FAM13A):c.1967A>G (p.Tyr656Cys)	FAM13A (Y316C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394713	NM_014883.4(FAM13A):c.2465C>T (p.Pro822Leu)	FAM13A (P482L +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2378730	NM_014883.4(FAM13A):c.2416G>A (p.Val806Met)	FAM13A (V806M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378587	NM_014883.4(FAM13A):c.2038C>T (p.Arg680Trp)	FAM13A (R340W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373704	NM_014883.4(FAM13A):c.1427C>T (p.Ser476Phe)	FAM13A (S122F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366577	NM_014883.4(FAM13A):c.2039G>A (p.Arg680Gln)	FAM13A (R326Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357749	NM_014883.4(FAM13A):c.875A>G (p.Gln292Arg)	FAM13A (Q292R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355994	NM_014883.4(FAM13A):c.1279A>G (p.Ile427Val)	FAM13A (I101V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322790	NM_014883.4(FAM13A):c.1775A>T (p.Asp592Val)	FAM13A (D238V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316457	NM_014883.4(FAM13A):c.2491A>C (p.Met831Leu)	FAM13A (M831L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308268	NM_014883.4(FAM13A):c.313G>A (p.Gly105Arg)	FAM13A (G105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297588	NM_014883.4(FAM13A):c.340G>C (p.Ala114Pro)	FAM13A (A114P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252110	NM_014883.4(FAM13A):c.1757G>C (p.Arg586Pro)	FAM13A (R586P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248894	NM_014883.4(FAM13A):c.1913C>T (p.Ser638Phe)	FAM13A (S312F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232862	NM_014883.4(FAM13A):c.2104A>C (p.Asn702His)	FAM13A (N376H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226838	NM_014883.4(FAM13A):c.1733T>C (p.Ile578Thr)	FAM13A (I238T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224617	NM_014883.4(FAM13A):c.313G>C (p.Gly105Arg)	FAM13A (G105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223679	NM_014883.4(FAM13A):c.1837G>A (p.Asp613Asn)	FAM13A (D273N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214118	NM_014883.4(FAM13A):c.1864G>A (p.Ala622Thr)	FAM13A (A268T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211683	NM_014883.4(FAM13A):c.2360G>A (p.Ser787Asn)	FAM13A (S433N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207403	NM_014883.4(FAM13A):c.1225C>T (p.Arg409Cys)	FAM13A (R55C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710295	t(4;20)(q22.1;p12.2)	FAM13A, JAG1	Translocation	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 1699915	NC_000004.12:g.(?_88928831)_(88996847_?)del	FAM13A, PKD2	Deletion	Polycystic kidney disease 2	GPathogenic
Select item 1527108	GRCh37/hg19 4q21.23-22.1(chr4:85839771-93071150)	ABCG2, AFF1 +31 more	Copy number loss	not specified	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 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 1340655	GRCh37/hg19 4q22.1(chr4:89782569-89849657)x1	FAM13A	Copy number loss	not provided	GLikely benign
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1258406	NM_014883.4(FAM13A):c.427+11298T>C	FAM13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178728	NM_014883.4(FAM13A):c.606-25694C>A	FAM13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1162779	NM_014883.4(FAM13A):c.843+16335C>A	FAM13A	Single nucleotide variant (intron variant)	Chronic obstructive pulmonary disease +2 more	GUncertain significance; association
Select item 1027619	NC_000004.12:g.88448181T>C	FAM13A	Single nucleotide variant	Chronic obstructive pulmonary disease	Gassociation
Select item 1027618	NM_014883.4(FAM13A):c.606-24587G>A	FAM13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1027617	NM_014883.4(FAM13A):c.605+25827G>A	FAM13A	Single nucleotide variant (intron variant)	Chronic obstructive pulmonary disease	Gassociation
Select item 976807	Single allele	DMP1, ABCG2 +22 more	Deletion	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 814582	GRCh37/hg19 4q22.1(chr4:89790888-90586088)x1	GPRIN3, TIGD2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 786516	NM_014883.4(FAM13A):c.381T>C (p.Ser127=)	FAM13A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778157	NM_014883.4(FAM13A):c.2844-3dup	FAM13A	Duplication (intron variant)	not provided	GBenign
Select item 775218	NM_014883.4(FAM13A):c.844-7C>T	FAM13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 724953	NM_014883.4(FAM13A):c.162C>T (p.Thr54=)	FAM13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719801	NM_014883.4(FAM13A):c.2754C>T (p.Asp918=)	FAM13A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714040	NM_014883.4(FAM13A):c.2366G>A (p.Arg789His)	FAM13A (R463H +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 562944	GRCh37/hg19 4q22.1(chr4:89811514-89938991)x1	FAM13A	Copy number loss	not provided	GUncertain significance
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 443904	GRCh37/hg19 4q22.1-22.3(chr4:89891197-98235479)x1	ATOH1, BMPR1B +12 more	Copy number loss	See cases	GLikely pathogenic
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 394976	GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)x1	ABCG2, ABRAXAS1 +47 more	Copy number loss	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 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 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 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 14009	GRCh38/hg38 4q22.1(chr4:88504598-90127832)x3	CCSER1, FAM13A +43 more	Copy number gain	Autosomal dominant Parkinson disease 4	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 91