79098[Gene ID] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 2209453	NM_023938.6(C1orf116):c.1718C>G (p.Pro573Arg)	C1orf116 (P327R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261585	NM_023938.6(C1orf116):c.1579C>T (p.Arg527Trp)	C1orf116 (R281W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246107	NM_023938.6(C1orf116):c.1225G>T (p.Ala409Ser)	C1orf116 (A163S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228785	NM_023938.6(C1orf116):c.1037C>G (p.Ala346Gly)	C1orf116 (A100G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249042	NM_023938.6(C1orf116):c.784C>T (p.Pro262Ser)	C1orf116 (P262S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376076	NM_023938.6(C1orf116):c.614G>A (p.Arg205Gln)	C1orf116 (R205Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2248439	NM_023938.6(C1orf116):c.263T>A (p.Ile88Lys)	C1orf116 (I88K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2639868	NM_023938.6(C1orf116):c.68dup (p.Asp23fs)	C1orf116 (D23fs)	Duplication (frameshift variant +1 more)	not provided	GLikely benign
Select item 2387119	NM_023938.6(C1orf116):c.15G>C (p.Glu5Asp)	C1orf116 (E5D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1409891	NC_000001.10:g.(?_206941981)_(208391267_?)dup	C1orf116, C4BPA +19 more	Duplication	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 443302	GRCh37/hg19 1q32.1-32.2(chr1:206961307-207252090)x1	C1orf116, FCAMR +7 more	Copy number loss	See cases	GLikely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 28