Related gene-specific medical variations for Gene (Select 440836) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235473	NM_001014440.4(CIMAP1B):c.733G>A (p.Ala245Thr)	CIMAP1B, LOC130067866 (A177T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235470	NM_001014440.4(CIMAP1B):c.68A>G (p.Tyr23Cys)	CIMAP1B, LOC130067869 (Y23C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235463	NM_001014440.4(CIMAP1B):c.650A>C (p.Lys217Thr)	CIMAP1B, LOC130067867 (E193D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235460	NM_001014440.4(CIMAP1B):c.602A>G (p.Gln201Arg)	CIMAP1B, LOC130067867 (Q133R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319931	NM_001014440.4(CIMAP1B):c.98C>A (p.Pro33Gln)	CIMAP1B, LOC130067869 (P33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267947	NM_001014440.4(CIMAP1B):c.683A>G (p.His228Arg)	CIMAP1B, LOC130067866 (H236R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239945	NM_001014440.4(CIMAP1B):c.74G>T (p.Gly25Val)	CIMAP1B, LOC130067869 (G25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210323	NM_001014440.4(CIMAP1B):c.10G>A (p.Asp4Asn)	CIMAP1B, LOC130067870 (D4N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 394049	GRCh37/hg19 22q13.33(chr22:50968848-50976445)x1	CIMAP1B	Copy number loss	See cases	GLikely benign