ClinVar for Gene (Select 5292) - ClinVar - NCBI

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Links from Gene

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3257884	NM_002648.4(PIM1):c.128T>A (p.Leu43Gln)	LOC129996315, PIM1 (L134Q +1 more)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3213071	NM_002648.4(PIM1):c.926C>A (p.Pro309Gln)	PIM1 (P400Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213070	NM_002648.4(PIM1):c.923C>T (p.Ser308Leu)	PIM1 (S308L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 781629	NM_002648.4(PIM1):c.735C>T (p.Asp245=)	PIM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712620	NM_002648.4(PIM1):c.-47G>A	PIM1 (G76D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic