"Ambry Genetics"[submitter] AND "HIBCH"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2208107	NM_001042519.2(C2orf88):c.138G>C (p.Glu46Asp)	C2orf88, HIBCH (E46D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105769	NM_014362.4(HIBCH):c.1133C>A (p.Ser378Tyr)	HIBCH (S378Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1321813	NM_014362.4(HIBCH):c.1036G>A (p.Val346Ile)	HIBCH (V346I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3105768	NM_014362.4(HIBCH):c.1003G>T (p.Ala335Ser)	HIBCH (A335S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105770	NM_014362.4(HIBCH):c.960G>C (p.Lys320Asn)	HIBCH (K320N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2141226	NM_014362.4(HIBCH):c.945G>A (p.Met315Ile)	HIBCH (M315I)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +1 more	GUncertain significance
Select item 1985245	NM_014362.4(HIBCH):c.932T>G (p.Leu311Arg)	HIBCH (L311R)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +1 more	GUncertain significance
Select item 488530	NM_014362.4(HIBCH):c.830T>A (p.Val277Glu)	HIBCH (V277E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2395983	NM_014362.4(HIBCH):c.812G>C (p.Cys271Ser)	HIBCH (C271S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 642439	NM_014362.4(HIBCH):c.794T>C (p.Met265Thr)	HIBCH (M265T)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +1 more	GUncertain significance
Select item 2540568	NM_014362.4(HIBCH):c.744T>A (p.His248Gln)	HIBCH (H248Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520646	NM_014362.4(HIBCH):c.743A>G (p.His248Arg)	HIBCH (H248R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1991646	NM_014362.4(HIBCH):c.692C>T (p.Ala231Val)	HIBCH (A231V)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +1 more	GUncertain significance
Select item 2608414	NM_014362.4(HIBCH):c.635T>C (p.Ile212Thr)	HIBCH (I212T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303337	NM_014362.4(HIBCH):c.632G>A (p.Gly211Glu)	HIBCH (G211E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520645	NM_014362.4(HIBCH):c.595G>T (p.Gly199Ter)	HIBCH (G199*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2476013	NM_014362.4(HIBCH):c.430A>G (p.Met144Val)	HIBCH (M144V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521306	NM_014362.4(HIBCH):c.371T>C (p.Leu124Pro)	HIBCH (L124P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1145	NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)	HIBCH (Y122C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2261249	NM_014362.4(HIBCH):c.352T>C (p.Phe118Leu)	HIBCH (F118L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 641906	NM_014362.4(HIBCH):c.238G>C (p.Glu80Gln)	HIBCH (E80Q)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency +1 more	GUncertain significance
Select item 2220658	NM_014362.4(HIBCH):c.197G>A (p.Arg66Gln)	HIBCH (R66Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 22