LOC117125592[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
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 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 60270	GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3	CALR, DAND5 +67 more	Copy number gain	See cases	GUncertain significance
Select item 59113	GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3	CACNA1A, CALR +96 more	Copy number gain	See cases	GPathogenic
Select item 2880212	NM_006563.5(KLF1):c.123G>A (p.Pro41=)	KLF1, LOC117125592	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 328325	NM_006563.5(KLF1):c.115A>C (p.Met39Leu)	KLF1, LOC117125592 (M39L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2630623	NM_006563.5(KLF1):c.109C>A (p.Gln37Lys)	KLF1, LOC117125592 (Q37K)	Single nucleotide variant (missense variant)	KLF1-related disorder	GUncertain significance
Select item 3006420	NM_006563.5(KLF1):c.100G>A (p.Glu34Lys)	KLF1, LOC117125592 (E34K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3046726	NM_006563.5(KLF1):c.88-4G>A	KLF1, LOC117125592	Single nucleotide variant (intron variant)	KLF1-related disorder	GLikely benign
Select item 2984377	NM_006563.5(KLF1):c.88-5C>T	KLF1, LOC117125592	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919687	NM_006563.5(KLF1):c.88-16C>T	KLF1, LOC117125592	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851757	NM_006563.5(KLF1):c.87+1G>A	KLF1, LOC117125592	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3018468	NM_006563.5(KLF1):c.72G>T (p.Gln24His)	KLF1, LOC117125592 (Q24H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985147	NM_006563.5(KLF1):c.45C>T (p.Thr15=)	KLF1, LOC117125592	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 784830	NM_006563.5(KLF1):c.19G>A (p.Ala7Thr)	KLF1, LOC117125592 (A7T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2885152	NM_006563.5(KLF1):c.16A>T (p.Thr6Ser)	KLF1, LOC117125592 (T6S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100798	NM_006563.5(KLF1):c.13G>A (p.Glu5Lys)	KLF1, LOC117125592 (E5K)	Single nucleotide variant (missense variant)	BLOOD GROUP--LUTHERAN INHIBITOR	GBenign
Select item 1930742	NM_006563.5(KLF1):c.-3_7del (p.Met1fs)	KLF1, LOC117125592 (M1fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3043194	NM_006563.5(KLF1):c.-1C>T	KLF1, LOC117125592	Single nucleotide variant (5 prime UTR variant)	KLF1-related disorder	GLikely benign
Select item 889191	NM_006563.5(KLF1):c.-43G>A	KLF1, LOC117125592	Single nucleotide variant (5 prime UTR variant)	Congenital dyserythropoietic anemia type 4	GLikely benign
Select item 1163126	NM_006563.3(KLF1):c.-123C>T	KLF1, LOC117125592	Single nucleotide variant	not provided	GUncertain significance
Select item 2683794	NM_006563.3(KLF1):c.-149dup	KLF1, LOC117125592	Duplication	not provided	GUncertain significance
Select item 1233431	NC_000019.10:g.12887391G>C	KLF1, LOC117125592	Single nucleotide variant	not provided	GBenign

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Items: 29