HIPK2[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 60298	GRCh38/hg38 7q33-34(chr7:137741740-139688885)x1	AKR1D1, ATP6V0A4 +88 more	Copy number loss	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 59694	GRCh38/hg38 7q34(chr7:138795539-140364913)x3	ATP6V0A4, CLEC2L +86 more	Copy number gain	See cases	GUncertain significance
Select item 154270	GRCh38/hg38 7q34(chr7:139476271-140449156)x1	CLEC2L, HIPK2 +53 more	Copy number loss	See cases	GUncertain significance
Select item 2658015	NM_022740.5(HIPK2):c.3105G>A (p.Gln1035=)	HIPK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2230981	NM_022740.5(HIPK2):c.2204C>T (p.Ala735Val)	HIPK2 (A735V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522914	NM_022740.5(HIPK2):c.1882G>A (p.Ala628Thr)	HIPK2 (A628T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284325	NM_022740.5(HIPK2):c.1531G>A (p.Asp511Asn)	HIPK2 (D511N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105938	NM_022740.5(HIPK2):c.1512G>T (p.Leu504Phe)	HIPK2 (L504F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284327	NM_022740.5(HIPK2):c.1403A>C (p.Tyr468Ser)	HIPK2 (Y468S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105944	NM_022740.5(HIPK2):c.967G>C (p.Ala323Pro)	HIPK2 (A323P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376191	NM_022740.5(HIPK2):c.931G>A (p.Ala311Thr)	HIPK2 (A311T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105943	NM_022740.5(HIPK2):c.770A>G (p.Asp257Gly)	HIPK2 (D257G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284326	NM_022740.5(HIPK2):c.485C>T (p.Thr162Ile)	HIPK2 (T162I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658016	NM_022740.5(HIPK2):c.471T>C (p.Asn157=)	HIPK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3105941	NM_022740.5(HIPK2):c.325G>A (p.Gly109Ser)	HIPK2 (G109S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105940	NM_022740.5(HIPK2):c.251T>C (p.Ile84Thr)	HIPK2 (I84T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484326	NM_022740.5(HIPK2):c.231C>G (p.Ser77Arg)	HIPK2 (S77R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105942	NM_022740.5(HIPK2):c.76T>A (p.Cys26Ser)	HIPK2 (C26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284328	NM_022740.5(HIPK2):c.56C>T (p.Thr19Ile)	HIPK2 (T19I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 36