C1848561[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 297476	NM_015506.2(MMACHC):c.-123A>T	MMACHC	Single nucleotide variant	Disorders of Intracellular Cobalamin Metabolism +1 more	GUncertain significance
Select item 297479	NM_015506.3(MMACHC):c.67G>T (p.Val23Phe)	MMACHC (V23F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +4 more	GUncertain significance
Select item 138238	NM_015506.3(MMACHC):c.178G>C (p.Asp60His)	MMACHC (D60H +1 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +3 more	GBenign
Select item 203824	NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)	MMACHC (R61W +1 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +4 more	GUncertain significance
Select item 1421	NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	MMACHC (R91fs +1 more)	Duplication (frameshift variant)	not specified +6 more	GPathogenic
Select item 297481	NM_015506.3(MMACHC):c.277-4C>G	MMACHC	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 203826	NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)	MMACHC (E106K +1 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +3 more	GUncertain significance
Select item 95702	NM_015506.3(MMACHC):c.321G>A (p.Val107=)	MMACHC	Single nucleotide variant (synonymous variant)	Disorders of Intracellular Cobalamin Metabolism +3 more	GBenign
Select item 297482	NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu)	MMACHC (P109L +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +3 more	GConflicting classifications of pathogenicity
Select item 875417	NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser)	MMACHC (N110S +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +2 more	GUncertain significance
Select item 297483	NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys)	MMACHC (R112C +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 more	GUncertain significance
Select item 297484	NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)	MMACHC (Y130C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 1423	NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	MMACHC (R132* +1 more)	Single nucleotide variant (nonsense)	cblC type of combined methylmalonic aciduria and homocystinuria +3 more	GPathogenic
Select item 297485	NM_015506.3(MMACHC):c.403G>T (p.Val135Leu)	MMACHC (V135L +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 more	GUncertain significance
Select item 297486	NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu)	MMACHC (I145L +1 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +4 more	GLikely benign
Select item 203828	NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	MMACHC (G147A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 706370	NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln)	MMACHC (R153Q +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +2 more	GConflicting classifications of pathogenicity
Select item 203830	NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)	MMACHC (F158L +1 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +4 more	GUncertain significance
Select item 506724	NM_015506.3(MMACHC):c.495G>A (p.Leu165=)	MMACHC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 297487	NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr)	MMACHC (C182Y +1 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +1 more	GUncertain significance
Select item 876445	NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys)	MMACHC (R132C +1 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +1 more	GConflicting classifications of pathogenicity
Select item 496435	NM_015506.3(MMACHC):c.641G>A (p.Arg214His)	LOC129930446, MMACHC (R214H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 95707	NM_015506.3(MMACHC):c.658_660del (p.Lys220del)	LOC129930446, MMACHC (K220del +1 more)	Deletion (inframe_deletion)	not provided +1 more	GPathogenic
Select item 876446	NM_015506.3(MMACHC):c.676C>G (p.Pro226Ala)	LOC129930446, MMACHC (P226A +1 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +1 more	GConflicting classifications of pathogenicity
Select item 297488	NM_015506.3(MMACHC):c.691T>C (p.Leu231=)	MMACHC	Single nucleotide variant (synonymous variant)	Disorders of Intracellular Cobalamin Metabolism +1 more	GConflicting classifications of pathogenicity
Select item 876447	NM_015506.3(MMACHC):c.720A>G (p.Ser240=)	MMACHC	Single nucleotide variant (synonymous variant)	Disorders of Intracellular Cobalamin Metabolism +1 more	GConflicting classifications of pathogenicity
Select item 138239	NM_015506.3(MMACHC):c.738C>T (p.Pro246=)	MMACHC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 208197	NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)	MMACHC	Deletion (inframe_deletion)	Cobalamin C disease +1 more	GConflicting classifications of pathogenicity
Select item 297489	NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp)	MMACHC (R267W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 260665	NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly)	MMACHC (S271G +1 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +3 more	GBenign/Likely benign
Select item 554073	NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)	MMACHC	Single nucleotide variant (stop lost)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 297490	NM_015506.3(MMACHC):c.*5C>G	MMACHC	Single nucleotide variant (3 prime UTR variant)	Cobalamin C disease +1 more	GUncertain significance
Select item 297501	NM_015506.3(MMACHC):c.*269A>G	MMACHC	Single nucleotide variant (3 prime UTR variant)	Cobalamin C disease +2 more	GBenign/Likely benign
Select item 297502	NM_015506.3(MMACHC):c.*279A>G	MMACHC	Single nucleotide variant (3 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism +2 more	GBenign
Select item 225048	NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)	LMBRD1 (N280fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease +3 more	GPathogenic

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Items: 35