"AKR1C2-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3056884	NM_001393392.1(AKR1C2):c.783G>A (p.Leu261=)	AKR1C2	Single nucleotide variant (synonymous variant)	AKR1C2-related disorder	GLikely benign
Select item 3042249	NM_001393392.1(AKR1C2):c.772C>T (p.Arg258Cys)	AKR1C2 (R232C +1 more)	Single nucleotide variant (missense variant)	AKR1C2-related disorder	GBenign
Select item 3031291	NM_001393392.1(AKR1C2):c.720C>A (p.Val240=)	AKR1C2	Single nucleotide variant (synonymous variant)	AKR1C2-related disorder	GLikely benign
Select item 805966	NM_001393392.1(AKR1C2):c.666T>C (p.His222=)	AKR1C2, LOC101928051	Single nucleotide variant (synonymous variant)	AKR1C2-related disorder +1 more	GBenign/Likely benign
Select item 3037188	NM_001393392.1(AKR1C2):c.501C>T (p.Asn167=)	AKR1C2	Single nucleotide variant (synonymous variant)	AKR1C2-related disorder	GLikely benign
Select item 434114	NM_001393392.1(AKR1C2):c.441A>G (p.Thr147=)	AKR1C2	Single nucleotide variant (synonymous variant +1 more)	AKR1C2-related disorder +3 more	GBenign
Select item 3033417	NM_001393392.1(AKR1C2):c.384G>T (p.Val128=)	AKR1C2	Single nucleotide variant (synonymous variant +1 more)	AKR1C2-related disorder	GLikely benign
Select item 1181756	NM_001393392.1(AKR1C2):c.327C>T (p.Asp109=)	AKR1C2	Single nucleotide variant (synonymous variant)	AKR1C2-related disorder +1 more	GBenign
Select item 2634909	NM_001393392.1(AKR1C2):c.85-1G>C	AKR1C2	Single nucleotide variant (splice acceptor variant)	AKR1C2-related disorder	GUncertain significance
Select item 3046339	NM_001393392.1(AKR1C2):c.54C>T (p.Val18=)	AKR1C2	Single nucleotide variant (synonymous variant)	AKR1C2-related disorder	GLikely benign
Select item 3042543	NM_001393392.1(AKR1C2):c.15C>T (p.Tyr5=)	AKR1C2	Single nucleotide variant (synonymous variant)	AKR1C2-related disorder	GLikely benign