GC[gene] - ClinVar

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Items: 72

	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 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	See cases	GPathogenic
Select item 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	PARM1-AS1, PCAT4 +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 57861	GRCh38/hg38 4q13.3(chr4:70675977-72158855)x3	DCK, GC +23 more	Copy number gain	See cases	GUncertain significance
Select item 57862	GRCh38/hg38 4q13.3(chr4:70727833-72040353)x3	DCK, GC +21 more	Copy number gain	See cases	GUncertain significance
Select item 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic
Select item 154915	GRCh38/hg38 4q13.3(chr4:71367496-72953379)x1	ADAMTS3, GC +8 more	Copy number loss	See cases	GUncertain significance
Select item 3098958	NM_000583.4(GC):c.1384T>G (p.Cys462Gly)	GC (C481G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336645	NM_000583.4(GC):c.1375_1376insG (p.Pro459fs)	GC (P459fs +1 more)	Insertion (frameshift variant)	Chronic obstructive pulmonary disease	GUncertain significance
Select item 3336641	NM_000583.4(GC):c.1368C>A (p.Asn456Lys)	GC (N456K +1 more)	Single nucleotide variant (missense variant)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3098957	NM_000583.4(GC):c.1367A>C (p.Asn456Thr)	GC (N456T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242552	NM_000583.4(GC):c.1366A>T (p.Asn456Tyr)	GC (N456Y +1 more)	Single nucleotide variant (missense variant)	Chronic obstructive pulmonary disease	GPathogenic
Select item 3336646	NM_000583.4(GC):c.1364T>C (p.Ile455Thr)	GC (I455T +1 more)	Single nucleotide variant (missense variant)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336644	NM_000583.4(GC):c.1349C>G (p.Ser450Cys)	GC (S450C +1 more)	Single nucleotide variant (missense variant)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 2276728	NM_000583.4(GC):c.1342T>C (p.Phe448Leu)	GC (F448L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732690	NM_000583.4(GC):c.1333C>T (p.His445Tyr)	GC (H445Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3336647	NM_000583.4(GC):c.1330A>T (p.Lys444Ter)	GC (K444* +1 more)	Single nucleotide variant (nonsense)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336649	NM_000583.4(GC):c.1327_1328insT (p.Asn443fs)	GC (N443fs +1 more)	Insertion (frameshift variant)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336643	NM_000583.4(GC):c.1328del (p.Asn443fs)	GC (N443fs +1 more)	Deletion (frameshift variant)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336648	NM_000583.4(GC):c.1324dup (p.Val442fs)	GC (V442fs +1 more)	Duplication (frameshift variant)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 3336642	NM_000583.4(GC):c.1322_1323insTG (p.Val442fs)	GC (V442fs +1 more)	Insertion (frameshift variant)	Chronic obstructive pulmonary disease	GLikely pathogenic
Select item 2654803	NM_000583.4(GC):c.1320G>A (p.Lys440=)	GC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 15986	NM_000583.4(GC):c.1307C>A (p.Thr436Lys)	GC (T436K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 15987	NM_000583.4(GC):c.1296T>G (p.Asp432Glu)	GC (D432E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787805	NM_000583.4(GC):c.1273C>A (p.Arg425=)	GC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2246284	NM_000583.4(GC):c.1259A>T (p.Lys420Ile)	GC (K420I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280969	NM_000583.4(GC):c.1105C>G (p.Leu369Val)	GC (L388V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748418	NM_000583.4(GC):c.1051A>G (p.Ser351Gly)	GC (S351G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 15988	NM_000583.4(GC):c.1035-67TAAA[6_10]	GC	Microsatellite	GC1/GC2 POLYMORPHISM	GBenign
Select item 2248060	NM_000583.4(GC):c.1019C>T (p.Thr340Ile)	GC (T340I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280971	NM_000583.4(GC):c.981G>C (p.Glu327Asp)	GC (E346D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791393	NM_000583.4(GC):c.862A>G (p.Asn288Asp)	GC (N288D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2390158	NM_000583.4(GC):c.842A>G (p.His281Arg)	GC (H281R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098962	NM_000583.4(GC):c.811G>C (p.Glu271Gln)	GC (E271Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098961	NM_000583.4(GC):c.761T>C (p.Leu254Pro)	GC (L254P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720049	NM_000583.4(GC):c.701+7A>G	GC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 773155	NM_000583.4(GC):c.687G>A (p.Lys229=)	GC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2303408	NM_000583.4(GC):c.653G>A (p.Arg218Lys)	GC (R218K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612883	NM_000583.4(GC):c.627A>T (p.Leu209Phe)	GC (L228F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361913	NM_000583.4(GC):c.553A>G (p.Met185Val)	GC (M204V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748733	NM_000583.4(GC):c.498T>C (p.Asn166=)	GC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2463270	NM_000583.4(GC):c.440C>T (p.Ala147Val)	GC (A147V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381200	NM_000583.4(GC):c.428A>G (p.Glu143Gly)	GC (E143G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784040	NM_000583.4(GC):c.408C>T (p.Tyr136=)	GC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3098960	NM_000583.4(GC):c.398T>A (p.Phe133Tyr)	GC (F152Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280970	NM_000583.4(GC):c.395A>C (p.Glu132Ala)	GC (E132A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775988	NM_000583.4(GC):c.282G>A (p.Lys94=)	GC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2513262	NM_000583.4(GC):c.245A>T (p.Asp82Val)	GC (D101V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467790	NM_000583.4(GC):c.214G>A (p.Glu72Lys)	GC (E91K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236226	NM_000583.4(GC):c.167C>G (p.Thr56Arg)	GC (T75R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606660	NM_000583.4(GC):c.100C>A (p.His34Asn)	GC (H53N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098959	NM_000583.4(GC):c.22C>G (p.Leu8Val)	GC (L27V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268412	NM_000583.4(GC):c.10G>A (p.Val4Ile)	GC (V4I +1 more)	Single nucleotide variant (missense variant)	not specified	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 2685114	GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1	ADAMTS3, AFM +58 more	Copy number loss	not provided	GPathogenic
Select item 1527094	GRCh37/hg19 4q13.3(chr4:72609397-72873579)	GC	Copy number loss	not specified	GUncertain significance
Select item 1527090	GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517)	ADAMTS3, ADGRL3 +58 more	Copy number loss	not specified	GPathogenic
Select item 1340440	GRCh37/hg19 4q13.3(chr4:72380248-72840181)x3	GC, SLC4A4	Copy number gain	not provided	GUncertain significance
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 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 685523	GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1	ADAMTS3, AFM +51 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 562920	GRCh37/hg19 4q13.1-13.3(chr4:64705501-73469716)x3	ADAMTS3, AMBN +49 more	Copy number gain	not provided	GPathogenic
Select item 443262	GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	ADAMTS3, AFM +75 more	Copy number loss	See cases	GPathogenic
Select item 443065	GRCh37/hg19 4q13.3(chr4:72224764-73824383)x1	ADAMTS3, GC +2 more	Copy number loss	See cases	GUncertain significance
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

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Items: 72