"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "HIBADH"[ge - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 810079	NM_152740.4(HIBADH):c.582dup (p.Asn195fs)	HIBADH (N195fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2657365	NM_152740.4(HIBADH):c.571T>C (p.Cys191Arg)	HIBADH (C191R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2657366	NM_152740.4(HIBADH):c.73G>T (p.Ala25Ser)	HIBADH (A25S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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