6347[HGNC] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 1246322	NC_000019.10:g.16324634G>A	KLF2, KLF2-DT	Single nucleotide variant	not provided	GBenign
Select item 2549040	NM_016270.4(KLF2):c.37A>G (p.Thr13Ala)	KLF2 (T13A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253106	NM_016270.4(KLF2):c.65G>C (p.Gly22Ala)	KLF2 (G22A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1249344	NM_016270.4(KLF2):c.75+44C>T	KLF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2623602	NM_016270.4(KLF2):c.152T>C (p.Met51Thr)	KLF2 (M51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322856	NM_016270.4(KLF2):c.167T>C (p.Leu56Pro)	KLF2 (L56P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358407	NM_016270.4(KLF2):c.226C>G (p.Pro76Ala)	KLF2 (P76A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389069	NM_016270.4(KLF2):c.263C>G (p.Ala88Gly)	KLF2 (A88G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351578	NM_016270.4(KLF2):c.274G>A (p.Val92Met)	KLF2 (V92M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1177685	NM_016270.4(KLF2):c.311T>C (p.Leu104Pro)	KLF2 (L104P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2372959	NM_016270.4(KLF2):c.316C>T (p.Pro106Ser)	KLF2 (P106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382123	NM_016270.4(KLF2):c.361G>A (p.Val121Ile)	KLF2 (V121I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402908	NM_016270.4(KLF2):c.391G>A (p.Gly131Ser)	KLF2 (G131S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115316	NM_016270.4(KLF2):c.397G>C (p.Gly133Arg)	KLF2 (G133R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785616	NM_016270.4(KLF2):c.425G>A (p.Arg142His)	KLF2 (R142H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2360640	NM_016270.4(KLF2):c.430C>T (p.Pro144Ser)	KLF2 (P144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379314	NM_016270.4(KLF2):c.436G>A (p.Gly146Ser)	KLF2 (G146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316577	NM_016270.4(KLF2):c.448G>A (p.Glu150Lys)	KLF2 (E150K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115317	NM_016270.4(KLF2):c.450G>T (p.Glu150Asp)	KLF2 (E150D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225009	NM_016270.4(KLF2):c.515A>C (p.Asp172Ala)	KLF2 (D172A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238362	NM_016270.4(KLF2):c.535G>A (p.Asp179Asn)	KLF2 (D179N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115318	NM_016270.4(KLF2):c.562G>T (p.Gly188Cys)	KLF2 (G188C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288825	NM_016270.4(KLF2):c.598C>T (p.Pro200Ser)	KLF2 (P200S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236734	NM_016270.4(KLF2):c.652G>C (p.Ala218Pro)	KLF2 (A218P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649510	NM_016270.4(KLF2):c.774G>A (p.Lys258=)	KLF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3288826	NM_016270.4(KLF2):c.833G>A (p.Gly278Asp)	KLF2 (G278D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1723130	NM_016270.4(KLF2):c.951dup (p.Glu318fs)	KLF2 (E318fs)	Duplication (frameshift variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic, low penetrance
Select item 3288827	NM_016270.4(KLF2):c.1009T>C (p.Cys337Arg)	KLF2 (C337R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1182815	NM_016270.4(KLF2):c.*171C>A	KLF2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442665	GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1	ANO8, ABHD8 +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 442476	GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1	ADGRE2, AKAP8 +45 more	Copy number loss	See cases	GPathogenic
Select item 424641	GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1	HSH2D, KLF2 +46 more	Copy number loss	not provided	GPathogenic

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Items: 42