6277[HGNC] - ClinVar

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Items: 38

	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 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 147391	GRCh38/hg38 1q32.3-41(chr1:214023812-216598173)x3	CENPF, ESRRG +30 more	Copy number gain	See cases	GUncertain significance
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 154040	GRCh38/hg38 1q32.3-41(chr1:214028574-217327791)x3	CENPF, ESRRG +40 more	Copy number gain	See cases	GUncertain significance
Select item 3113401	NM_001017425.3(KCNK2):c.16T>C (p.Ser6Pro)	KCNK2 (S6P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312615	NM_001017425.3(KCNK2):c.50C>T (p.Ala17Val)	KCNK2 (A17V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681347	NM_001017425.3(KCNK2):c.82G>A (p.Ala28Thr)	KCNK2 (A13T +2 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3287688	NM_001017425.3(KCNK2):c.98C>T (p.Pro33Leu)	KCNK2 (P18L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485312	NM_001017425.3(KCNK2):c.134C>A (p.Ala45Asp)	KCNK2 (A45D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484933	NM_001017425.3(KCNK2):c.161T>C (p.Ile54Thr)	KCNK2 (I54T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113402	NM_001017425.3(KCNK2):c.496C>T (p.Arg166Cys)	KCNK2 (R162C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404085	NM_001017425.3(KCNK2):c.605A>G (p.Lys202Arg)	KCNK2 (K187R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 772824	NM_001017425.3(KCNK2):c.831C>T (p.Ser277=)	KCNK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3287689	NM_001017425.3(KCNK2):c.832G>A (p.Asp278Asn)	KCNK2 (D274N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785792	NM_001017425.3(KCNK2):c.963+7A>C	KCNK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 161040	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 34890	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 2328417	NM_001017425.3(KCNK2):c.1106T>C (p.Leu369Pro)	KCNK2 (L365P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287690	NM_001017425.3(KCNK2):c.1189C>T (p.Pro397Ser)	KCNK2 (P393S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	ADIPOR1, ADORA1 +185 more	Deletion	not provided	GPathogenic
Select item 2685821	GRCh37/hg19 1q41(chr1:214853277-222111742)x1	BPNT1, C1orf115 +20 more	Copy number loss	not provided	GPathogenic
Select item 1807650	GRCh37/hg19 1q41(chr1:215152480-215203378)x1	KCNK2	Copy number loss	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1199386	Single allele	IARS2, BROX +27 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	NUCKS1, NUDT17 +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 685129	GRCh37/hg19 1q32.3-41(chr1:213650050-215256600)x3	KCNK2, LINC00538 +4 more	Copy number gain	not provided	GUncertain significance
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: 38