KLF12[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336900	NM_001400136.1(KLF12):c.1085A>G (p.Asp362Gly)	KLF12 (D332G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 57322	GRCh38/hg38 13q22.1(chr13:73764880-73913556)x1	KLF12	Copy number loss	See cases	GUncertain significance
Select item 3115275	NM_001400136.1(KLF12):c.745A>T (p.Thr249Ser)	KLF12 (T219S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250613	NM_001400136.1(KLF12):c.740A>G (p.Asn247Ser)	KLF12 (N228S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291064	NM_001400136.1(KLF12):c.688G>A (p.Gly230Ser)	KLF12 (G230S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278843	NM_001400136.1(KLF12):c.497C>G (p.Pro166Arg)	KLF12 (P166R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115273	NM_001400136.1(KLF12):c.424G>A (p.Val142Ile)	KLF12 (V123I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115272	NM_001400136.1(KLF12):c.418T>A (p.Ser140Thr)	KLF12 (S121T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254171	NM_001400136.1(KLF12):c.371C>T (p.Ala124Val)	KLF12 (A105V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115271	NM_001400136.1(KLF12):c.364C>T (p.Arg122Cys)	KLF12 (R122C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336991	NM_001400136.1(KLF12):c.356C>T (p.Ser119Phe)	KLF12 (S119F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609181	NM_001400136.1(KLF12):c.190G>A (p.Glu64Lys)	KLF12 (E64K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603735	NM_001400136.1(KLF12):c.120A>C (p.Gln40His)	KLF12 (Q40H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609249	NM_001400136.1(KLF12):c.89G>T (p.Arg30Ile)	KLF12 (R30I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115274	NM_001400136.1(KLF12):c.53A>G (p.Asn18Ser)	KLF12 (N18S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2684706	GRCh37/hg19 13q22.1(chr13:74201183-74494276)x3	KLF12	Copy number gain	not provided	GUncertain significance
Select item 1527783	GRCh37/hg19 13q22.1(chr13:73803512-74364906)	KLF12	Copy number gain	not specified	GUncertain significance
Select item 590951	GRCh37/hg19 13q22.1(chr13:74152544-74283131)	KLF12	Copy number gain	Aortic valve disease 1	GUncertain significance