ClinVar for Gene (Select 129930446) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2894478	NM_015506.3(MMACHC):c.630A>C (p.Thr210=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 2880707	NM_015506.3(MMACHC):c.640dup (p.Arg214fs)	LOC129930446, MMACHC (R157fs +1 more)	Duplication (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 2830152	NM_015506.3(MMACHC):c.618G>A (p.Arg206=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 2818364	NM_015506.3(MMACHC):c.614dup (p.Tyr205Ter)	LOC129930446, MMACHC (Y148* +1 more)	Duplication (nonsense)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 2707694	NM_015506.3(MMACHC):c.678A>C (p.Pro226=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 2676632	NM_015506.3(MMACHC):c.634del (p.Gln212fs)	LOC129930446, MMACHC (Q155fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 2676631	NM_015506.3(MMACHC):c.624del (p.Ala208_Val209insTer)	LOC129930446, MMACHC	Deletion (frameshift variant)	Cobalamin C disease	GLikely pathogenic
Select item 2676629	NM_015506.3(MMACHC):c.675_679del (p.Pro226fs)	LOC129930446, MMACHC (P169fs +1 more)	Microsatellite (frameshift variant)	Cobalamin C disease	GLikely pathogenic
Select item 2676621	NM_015506.3(MMACHC):c.600del (p.Trp200fs)	LOC129930446, MMACHC (W143fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GLikely pathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2535166	NM_015506.3(MMACHC):c.667T>C (p.Phe223Leu)	LOC129930446, MMACHC (F166L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528112	NM_015506.3(MMACHC):c.668T>C (p.Phe223Ser)	LOC129930446, MMACHC (F166S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464129	NM_015506.3(MMACHC):c.605A>T (p.Asp202Val)	LOC129930446, MMACHC (D145V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445735	NM_015506.3(MMACHC):c.685C>T (p.Gln229Ter)	LOC129930446, MMACHC (Q172* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease	GLikely pathogenic
Select item 2188165	NM_015506.3(MMACHC):c.626T>A (p.Val209Glu)	LOC129930446, MMACHC (V152E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2175034	NM_015506.3(MMACHC):c.642C>A (p.Arg214=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 2121779	NM_015506.3(MMACHC):c.661_664dup (p.Tyr222fs)	LOC129930446, MMACHC (Y165fs +1 more)	Duplication (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 2112693	NM_015506.3(MMACHC):c.663C>T (p.Ala221=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 2098419	NM_015506.3(MMACHC):c.663C>A (p.Ala221=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 2076119	NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)	LOC129930446, MMACHC (P154T +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 more	GUncertain significance
Select item 2003636	NM_015506.3(MMACHC):c.648dup (p.Glu217fs)	LOC129930446, MMACHC (E160fs +1 more)	Duplication (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 1992303	NM_015506.3(MMACHC):c.602G>A (p.Arg201His)	LOC129930446, MMACHC (R144H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1942665	NM_015506.3(MMACHC):c.627G>A (p.Val209=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 1924315	NM_015506.3(MMACHC):c.684C>T (p.Ala228=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 1647673	NM_015506.3(MMACHC):c.636G>A (p.Gln212=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 1453735	NM_015506.3(MMACHC):c.619del (p.Asp207fs)	LOC129930446, MMACHC (D150fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 1451201	NM_015506.3(MMACHC):c.647_649del (p.Ser216_Glu217delinsTer)	LOC129930446, MMACHC	Deletion (nonsense)	Cobalamin C disease	GPathogenic
Select item 1436751	NM_015506.3(MMACHC):c.600G>A (p.Trp200Ter)	LOC129930446, MMACHC (W200* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease	GPathogenic
Select item 1370153	NM_015506.3(MMACHC):c.631C>T (p.Pro211Ser)	LOC129930446, MMACHC (P211S +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance
Select item 1134580	NM_015506.3(MMACHC):c.678A>G (p.Pro226=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 1129839	NM_015506.3(MMACHC):c.627G>C (p.Val209=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 1110849	NM_015506.3(MMACHC):c.606T>C (p.Asp202=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 1094172	NM_015506.3(MMACHC):c.615C>T (p.Tyr205=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 1090863	NM_015506.3(MMACHC):c.633C>T (p.Pro211=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 1075815	NM_015506.3(MMACHC):c.599G>A (p.Trp200Ter)	LOC129930446, MMACHC (W143* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease	GPathogenic
Select item 1074542	NM_015506.3(MMACHC):c.649_650del (p.Glu217fs)	LOC129930446, MMACHC (E160fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 1035324	NM_015506.3(MMACHC):c.687A>G (p.Gln229=)	MMACHC, LOC129930446	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 1023220	NM_015506.3(MMACHC):c.643T>C (p.Tyr215His)	LOC129930446, MMACHC (Y158H +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GPathogenic
Select item 993003	NM_015506.3(MMACHC):c.616del (p.Arg206fs)	LOC129930446, MMACHC (R149fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GLikely pathogenic
Select item 956301	NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys)	LOC129930446, MMACHC (E217K +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance
Select item 942483	NM_015506.3(MMACHC):c.603_604del (p.Asp202fs)	LOC129930446, MMACHC (D145fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	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 848845	NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)	LOC129930446, MMACHC (R206Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 813353	NM_015506.3(MMACHC):c.626dup (p.Thr210fs)	LOC129930446, MMACHC (T153fs +1 more)	Duplication (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 705811	NM_015506.3(MMACHC):c.651A>G (p.Glu217=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 558321	NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)	LOC129930446, MMACHC (R206P +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GConflicting classifications of pathogenicity
Select item 558292	NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter)	LOC129930446, MMACHC (Y205* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease	GPathogenic
Select item 553035	NM_015506.3(MMACHC):c.619dup (p.Asp207fs)	LOC129930446, MMACHC (D150fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 550046	NM_015506.3(MMACHC):c.626_627del (p.Val209fs)	LOC129930446, MMACHC (V209fs +1 more)	Microsatellite (frameshift variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 496436	NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)	LOC129930446, MMACHC (Y222* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease +1 more	GPathogenic
Select item 496435	NM_015506.3(MMACHC):c.641G>A (p.Arg214His)	LOC129930446, MMACHC (R214H +1 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +2 more	GUncertain significance
Select item 488706	NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)	LOC129930446, MMACHC (R230* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease +2 more	GConflicting classifications of pathogenicity
Select item 465313	NM_015506.3(MMACHC):c.650A>T (p.Glu217Val)	LOC129930446, MMACHC (E217V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 424337	NM_015506.3(MMACHC):c.650A>G (p.Glu217Gly)	LOC129930446, MMACHC (E217G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 288244	NM_015506.3(MMACHC):c.683C>T (p.Ala228Val)	MMACHC, LOC129930446 (A228V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 281007	NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter)	LOC129930446, MMACHC (Y205* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease +1 more	GPathogenic
Select item 203832	NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)	LOC129930446, MMACHC (R206W +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 152740	GRCh38/hg38 1p34.1(chr1:45469848-46220805)x3	AKR1A1, CCDC163 +53 more	Copy number gain	See cases	GLikely benign
Select item 148588	GRCh38/hg38 1p34.1(chr1:45488251-46220805)x3	AKR1A1, CCDC163 +52 more	Copy number gain	See cases	GUncertain significance
Select item 145560	GRCh38/hg38 1p34.1(chr1:44962358-45585262)x3	AKR1A1, CCDC163 +48 more	Copy number gain	See cases	GUncertain significance
Select item 100863	NM_015506.3(MMACHC):c.649G>T (p.Glu217Ter)	LOC129930446, MMACHC (E217* +1 more)	Single nucleotide variant (nonsense)	not provided	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 95706	NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter)	LOC129930446, MMACHC (W203* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease +1 more	GPathogenic
Select item 95705	NM_015506.3(MMACHC):c.603T>C (p.Arg201=)	MMACHC, LOC129930446	Single nucleotide variant (synonymous variant)	Cobalamin C disease +1 more	GConflicting classifications of pathogenicity
Select item 57754	GRCh38/hg38 1p34.1(chr1:45402871-45603348)x3	AKR1A1, CCDC163 +22 more	Copy number gain	See cases	GUncertain significance
Select item 57383	GRCh38/hg38 1p34.1(chr1:45440264-45869574)x3	AKR1A1, CCDC163 +34 more	Copy number gain	See cases	GUncertain significance
Select item 30800	NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)	LOC129930446, MMACHC (W203* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease +1 more	GPathogenic

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Items: 67