51744[geneid] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 639872	NC_000001.10:g.(?_160786670)_(161332233_?)dup	DEDD, F11R +63 more	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 1232419	NM_016382.4(CD244):c.*578T>C	CD244	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2302922	NM_016382.4(CD244):c.1080C>A (p.Asn360Lys)	CD244 (N268K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140457	NM_016382.4(CD244):c.1064G>A (p.Arg355His)	CD244 (R263H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037210	NM_016382.4(CD244):c.1063C>T (p.Arg355Cys)	CD244 (R263C +2 more)	Single nucleotide variant (missense variant)	CD244-related disorder	GBenign
Select item 161545	NM_016382.4(CD244):c.971G>A (p.Arg324Lys)	CD244 (R232K +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2477040	NM_016382.4(CD244):c.968C>A (p.Ser323Tyr)	CD244 (S328Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620915	NM_016382.4(CD244):c.904C>A (p.Pro302Thr)	CD244 (P210T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4895	NM_016382.4(CD244):c.834+526A>G	CD244	Single nucleotide variant (intron variant)	Rheumatoid arthritis	Grisk factor
Select item 2481167	NM_016382.4(CD244):c.793A>G (p.Ile265Val)	CD244 (I173V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2408999	NM_016382.4(CD244):c.707T>C (p.Phe236Ser)	CD244 (F241S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784959	NM_016382.4(CD244):c.685A>G (p.Ile229Val)	CD244 (I229V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2207348	NM_016382.4(CD244):c.654G>T (p.Gln218His)	CD244 (Q218H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2351933	NM_016382.4(CD244):c.651T>G (p.His217Gln)	CD244 (H217Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140460	NM_016382.4(CD244):c.617C>A (p.Thr206Asn)	CD244 (T206N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556227	NM_016382.4(CD244):c.611G>A (p.Ser204Asn)	CD244 (S204N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2395042	NM_016382.4(CD244):c.535T>C (p.Tyr179His)	CD244 (Y184H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2325724	NM_016382.4(CD244):c.417G>T (p.Lys139Asn)	CD244 (K144N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140458	NM_016382.4(CD244):c.397C>T (p.Arg133Cys)	CD244 (R138C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322210	NM_016382.4(CD244):c.380-3C>T	CD244 (P131L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322209	NM_016382.4(CD244):c.380-4C>T	CD244 (P131S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377269	NM_016382.4(CD244):c.248T>A (p.Phe83Tyr)	CD244 (F83Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221735	NM_016382.4(CD244):c.223C>A (p.Pro75Thr)	CD244 (P75T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2244838	NM_016382.4(CD244):c.132A>G (p.Ile44Met)	CD244 (I44M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780271	NM_016382.4(CD244):c.39C>T (p.Leu13=)	CD244	Single nucleotide variant (synonymous variant)	CD244-related disorder +1 more	GBenign
Select item 2685743	GRCh37/hg19 1q23.2-23.3(chr1:160368624-160871262)x1	CD244, CD48 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809367	GRCh37/hg19 1q23.3(chr1:160778879-161190622)x3	ADAMTS4, ARHGAP30 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	TAGLN2, TOMM40L +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 830661	NC_000001.11:g.(?_160816880)_(161362518_?)dup	DEDD, F11R +24 more	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 688334	GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3	ADAMTS4, APOA2 +42 more	Copy number gain	not provided	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 685941	GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3	ATP1A2, ATP1A4 +31 more	Copy number gain	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 41