GK5[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 more	Copy number loss	See cases	GPathogenic
Select item 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 more	Copy number loss	See cases	GPathogenic
Select item 57835	GRCh38/hg38 3q23-24(chr3:141751960-148246189)x1	ATP1B3, ATR +107 more	Copy number loss	See cases	GPathogenic
Select item 144864	GRCh38/hg38 3q23(chr3:142113086-142334267)x3	GK5, LOC112903842 +6 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 2600962	NM_001039547.3(GK5):c.1561C>T (p.Arg521Cys)	GK5 (R521C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100033	NM_001039547.3(GK5):c.1513T>C (p.Cys505Arg)	GK5 (C505R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369977	NM_001039547.3(GK5):c.1001G>C (p.Ser334Thr)	GK5 (S334T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217445	NM_001039547.3(GK5):c.976C>G (p.Gln326Glu)	GK5 (Q326E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257578	NM_001039547.3(GK5):c.907A>G (p.Ile303Val)	GK5 (I303V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3100036	NM_001039547.3(GK5):c.679A>G (p.Lys227Glu)	GK5 (K227E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2230220	NM_001039547.3(GK5):c.593C>G (p.Thr198Ser)	GK5 (T198S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100035	NM_001039547.3(GK5):c.518T>C (p.Val173Ala)	GK5 (V173A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2681297	NM_001039547.3(GK5):c.318-5T>C	GK5	Single nucleotide variant (intron variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3100034	NM_001039547.3(GK5):c.220G>A (p.Val74Ile)	GK5 (V74I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598508	NM_001039547.3(GK5):c.179T>A (p.Val60Glu)	GK5 (V60E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281487	NM_001039547.3(GK5):c.116C>A (p.Ala39Glu)	GK5 (A39E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329108	NM_001039547.3(GK5):c.22C>T (p.Pro8Ser)	GK5 (P8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3247002	NC_000003.11:g.(?_141102833)_(142184102_?)del	ATP1B3, ATR +7 more	Deletion	not provided	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 980063	GRCh37/hg19 3q23(chr3:138737687-142053396)x1	PRR23C, CLSTN2 +18 more	Copy number loss	not provided	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 625695	GRCh37/hg19 3q22.2-24(chr3:135288025-146874012)	A4GNT, ARMC8 +54 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393964	GRCh37/hg19 3q23(chr3:141867689-142051761)x3	GK5, TFDP2 +1 more	Copy number gain	See cases	GBenign/Likely benign
Select item 393939	GRCh37/hg19 3q23(chr3:141810106-141904777)x3	GK5, TFDP2	Copy number gain	See cases	GBenign

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Items: 34