Related gene-specific medical variations for Gene (Select 4892) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3347639	NM_198060.4(NRAP):c.5108A>T (p.Glu1703Val)	HABP2, NRAP (E1667V +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	NRAP-related disorder	GUncertain significance
Select item 3300984	NM_198060.4(NRAP):c.5120A>T (p.His1707Leu)	HABP2, NRAP (H1671L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2629595	NM_198060.4(NRAP):c.5089-3C>T	HABP2, NRAP (Q1697*)	Single nucleotide variant (3 prime UTR variant +2 more)	NRAP-related disorder	GUncertain significance
Select item 2441828	NM_198060.4(NRAP):c.3703-1G>T	NRAP	Single nucleotide variant (splice acceptor variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2245566	NM_198060.4(NRAP):c.5167A>G (p.Lys1723Glu)	HABP2, NRAP (K1688E +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 994436	NM_198060.4(NRAP):c.3889C>G (p.Arg1297Gly)	NRAP (R1261G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 977335	NM_198060.4(NRAP):c.466_481del (p.Glu156fs)	NRAP (E156fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 879852	NM_004132.5(HABP2):c.*565A>G	NRAP, HABP2	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GLikely benign
Select item 879537	NM_004132.5(HABP2):c.*1175C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 879494	NM_004132.5(HABP2):c.*360A>C	NRAP, HABP2	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 879493	NM_004132.5(HABP2):c.*349C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 878080	NM_004132.5(HABP2):c.*1124C>A	NRAP, HABP2	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 877913	NM_004132.5(HABP2):c.*822C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 877912	NM_004132.5(HABP2):c.*813C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 877911	NM_004132.5(HABP2):c.*802G>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298946	NM_004132.5(HABP2):c.*1160G>A	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 298945	NM_004132.5(HABP2):c.*1159C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298944	NM_004132.5(HABP2):c.*1115C>A	NRAP, HABP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 298943	NM_004132.5(HABP2):c.*1088T>C	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298942	NM_004132.5(HABP2):c.*1052G>A	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298941	NM_004132.5(HABP2):c.*1051C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298940	NM_004132.5(HABP2):c.*1039T>C	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298939	NM_004132.5(HABP2):c.*919T>G	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298938	NM_004132.5(HABP2):c.*869T>G	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GLikely benign
Select item 298937	NM_004132.5(HABP2):c.*859A>G	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298936	NM_004132.5(HABP2):c.*823C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298935	NM_198060.4(NRAP):c.5089-78C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia +1 more	GBenign
Select item 298934	NM_004132.5(HABP2):c.*765C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298933	NM_004132.5(HABP2):c.*682T>G	HABP2, NRAP (D1706A +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298932	NM_004132.5(HABP2):c.*644T>G	HABP2, NRAP (I1683L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298931	NM_198060.4(NRAP):c.5170AAG[2] (p.Lys1726del)	NRAP, HABP2 (K1690del +3 more)	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 298930	NM_198060.4(NRAP):c.*7del	HABP2, NRAP	Deletion (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia +1 more	GBenign/Likely benign
Select item 298929	NM_004132.5(HABP2):c.*527C>T	NRAP, HABP2	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298928	NM_004132.5(HABP2):c.*467C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298927	NM_004132.5(HABP2):c.*418C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298926	NM_004132.5(HABP2):c.*365A>G	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GLikely benign

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Items: 36