ClinVar for MedGen (Select 766829) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3013548	NM_005050.4(ABCD4):c.454C>T (p.Arg152Ter)	ABCD4 (R152* +2 more)	Single nucleotide variant (nonsense +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GPathogenic
Select item 3009961	NM_005050.4(ABCD4):c.1695C>T (p.Ile565=)	ABCD4	Single nucleotide variant (synonymous variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 3002402	NM_005050.4(ABCD4):c.927G>A (p.Leu309=)	ABCD4	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2917048	NM_005050.4(ABCD4):c.398A>G (p.Asn133Ser)	ABCD4 (N46S +2 more)	Single nucleotide variant (missense variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2911526	NM_005050.4(ABCD4):c.936+20A>C	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2899023	NM_005050.4(ABCD4):c.1028+8C>T	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2897817	NM_005050.4(ABCD4):c.1347G>A (p.Thr449=)	ABCD4	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2896021	NM_005050.4(ABCD4):c.39-19C>T	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2894002	NM_005050.4(ABCD4):c.573C>T (p.Phe191=)	ABCD4	Single nucleotide variant (synonymous variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2886684	NM_005050.4(ABCD4):c.1124C>T (p.Pro375Leu)	ABCD4 (P216L +8 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2883399	NM_005050.4(ABCD4):c.528C>T (p.Tyr176=)	ABCD4 (T40I)	Single nucleotide variant (synonymous variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2867567	NM_005050.4(ABCD4):c.38+18G>A	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2865129	NM_005050.4(ABCD4):c.286-3C>T	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2858385	NM_005050.4(ABCD4):c.497T>C (p.Ile166Thr)	ABCD4 (I7T +4 more)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2851248	NM_005050.4(ABCD4):c.637G>T (p.Val213Leu)	ABCD4 (V170L +4 more)	Single nucleotide variant (missense variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2845690	NM_005050.4(ABCD4):c.1119-20C>T	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2843505	NM_005050.4(ABCD4):c.1438G>T (p.Glu480Ter)	ABCD4 (E321* +8 more)	Single nucleotide variant (nonsense +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GPathogenic
Select item 2841994	NM_005050.4(ABCD4):c.1431C>A (p.Pro477=)	ABCD4	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2833773	NM_005050.4(ABCD4):c.1194C>T (p.Ser398=)	ABCD4	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2802218	NM_005050.4(ABCD4):c.432G>A (p.Gln144=)	ABCD4 (S8N)	Single nucleotide variant (synonymous variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2793187	NM_005050.4(ABCD4):c.1029-14C>G	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2784087	NM_005050.4(ABCD4):c.7dup (p.Val3fs)	ABCD4 (V3fs)	Duplication (frameshift variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GPathogenic
Select item 2752020	NM_005050.4(ABCD4):c.1158dup (p.Phe387fs)	ABCD4 (F124fs +7 more)	Duplication (frameshift variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GPathogenic
Select item 2747083	NM_005050.4(ABCD4):c.1507-4A>G	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2745746	NM_005050.4(ABCD4):c.1420-3del	ABCD4	Deletion (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2737731	NM_005050.4(ABCD4):c.995C>T (p.Thr332Met)	ABCD4 (T245M +8 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2731113	NM_005050.4(ABCD4):c.23C>T (p.Pro8Leu)	ABCD4 (P8L)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ +1 more	GUncertain significance
Select item 2728334	NM_005050.4(ABCD4):c.1606C>T (p.Arg536Ter)	ABCD4 (R377* +8 more)	Single nucleotide variant (nonsense +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GPathogenic
Select item 2727964	NM_005050.4(ABCD4):c.937-17C>T	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GBenign
Select item 2722879	NM_005050.4(ABCD4):c.761A>G (p.Gln254Arg)	ABCD4 (Q211R +7 more)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2721278	NM_005050.4(ABCD4):c.1559+13C>T	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2720728	NM_005050.4(ABCD4):c.1457-1G>C	ABCD4	Single nucleotide variant (splice acceptor variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely pathogenic
Select item 2696653	NM_005050.4(ABCD4):c.1632C>T (p.Tyr544=)	ABCD4 (T300M)	Single nucleotide variant (synonymous variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2664286	NM_005050.4(ABCD4):c.301del (p.Gln101fs)	ABCD4 (Q101fs +1 more)	Deletion (frameshift variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely pathogenic
Select item 2584859	NM_005050.4(ABCD4):c.714C>G (p.Phe238Leu)	ABCD4 (F100L +6 more)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2438772	NM_005050.4(ABCD4):c.1324C>T (p.Arg442Trp)	ABCD4 (R179W +8 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2419597	NM_005050.4(ABCD4):c.342C>T (p.Asp114=)	ABCD4	Single nucleotide variant (synonymous variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2415590	NM_005050.4(ABCD4):c.400G>A (p.Val134Met)	ABCD4 (V134M +2 more)	Single nucleotide variant (missense variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2414926	NM_005050.4(ABCD4):c.664T>C (p.Phe222Leu)	ABCD4 (F135L +4 more)	Single nucleotide variant (missense variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2414176	NM_005050.4(ABCD4):c.810G>A (p.Leu270=)	ABCD4	Single nucleotide variant (synonymous variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2202012	NM_005050.4(ABCD4):c.41C>T (p.Pro14Leu)	ABCD4 (P14L)	Single nucleotide variant (missense variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2198918	NM_005050.4(ABCD4):c.1743C>G (p.Ser581Arg)	ABCD4 (S318R +8 more)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2189673	NM_005050.4(ABCD4):c.1457-18G>A	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2183879	NM_005050.4(ABCD4):c.1805G>C (p.Arg602Thr)	ABCD4 (R339T +7 more)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2182647	NM_005050.4(ABCD4):c.1333G>A (p.Val445Met)	ABCD4 (V358M +8 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2172377	NM_005050.4(ABCD4):c.286-10C>G	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2165558	NM_005050.4(ABCD4):c.1328-10G>A	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2162590	NM_005050.4(ABCD4):c.384G>A (p.Ala128=)	ABCD4	Single nucleotide variant (synonymous variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2162579	NM_005050.4(ABCD4):c.1520C>A (p.Ala507Glu)	ABCD4 (A420E +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2162388	NM_005050.4(ABCD4):c.1456+9G>T	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2160603	NM_005050.4(ABCD4):c.1060A>G (p.Met354Val)	ABCD4 (M216V +8 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2158714	NM_005050.4(ABCD4):c.543-11C>G	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2157474	NM_005050.4(ABCD4):c.1528G>C (p.Glu510Gln)	ABCD4 (E247Q +9 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2155294	NM_005050.4(ABCD4):c.1327+9C>A	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2151626	NM_005050.4(ABCD4):c.816C>T (p.Ile272=)	ABCD4	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ +1 more	GLikely benign
Select item 2145781	NM_005050.4(ABCD4):c.1696G>A (p.Gly566Ser)	ABCD4 (G303S +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2143170	NM_005050.4(ABCD4):c.861T>G (p.Val287=)	ABCD4	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2142681	NM_005050.4(ABCD4):c.893A>G (p.Tyr298Cys)	ABCD4 (Y211C +8 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ +1 more	GUncertain significance
Select item 2141575	NM_005050.4(ABCD4):c.373del (p.Arg125fs)	ABCD4 (R38fs +1 more)	Deletion (frameshift variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GPathogenic
Select item 2137605	NM_005050.4(ABCD4):c.1667_1668del (p.Glu556fs)	ABCD4 (E556fs +7 more)	Microsatellite (frameshift variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GConflicting classifications of pathogenicity
Select item 2133762	NM_005050.4(ABCD4):c.158-14C>T	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2133198	NM_005050.4(ABCD4):c.39G>T (p.Arg13Ser)	ABCD4 (R13S)	Single nucleotide variant (missense variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2116322	NM_005050.4(ABCD4):c.1006G>A (p.Asp336Asn)	ABCD4 (D177N +8 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2106155	NM_005050.4(ABCD4):c.286-7T>A	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2099520	NM_005050.4(ABCD4):c.9C>T (p.Val3=)	ABCD4	Single nucleotide variant (synonymous variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2097588	NM_005050.4(ABCD4):c.1328-18T>C	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2086078	NM_005050.4(ABCD4):c.379C>T (p.Arg127Cys)	ABCD4 (R84C +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ +1 more	GUncertain significance
Select item 2083971	NM_005050.4(ABCD4):c.669-6G>A	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2076141	NM_005050.4(ABCD4):c.1356G>T (p.Gly452=)	ABCD4	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2074759	NM_005050.4(ABCD4):c.467A>T (p.Gln156Leu)	ABCD4 (Q156L +3 more)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2072984	NM_005050.4(ABCD4):c.227T>C (p.Leu76Ser)	ABCD4 (L76S)	Single nucleotide variant (missense variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2070966	NM_005050.4(ABCD4):c.543-17CT[3]	ABCD4	Microsatellite (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2068405	NM_005050.4(ABCD4):c.1450G>A (p.Asp484Asn)	ABCD4 (D397N +8 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2066412	NM_005050.4(ABCD4):c.1559+16G>A	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2062425	NM_005050.4(ABCD4):c.1040T>C (p.Leu347Pro)	ABCD4 (L209P +8 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2060566	NM_005050.4(ABCD4):c.1028+19C>G	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2048233	NM_005050.4(ABCD4):c.688C>T (p.Arg230Trp)	ABCD4 (R188W +5 more)	Single nucleotide variant (missense variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2046385	NM_005050.4(ABCD4):c.996G>C (p.Thr332=)	ABCD4	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2046362	NM_005050.4(ABCD4):c.1637-6C>G	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2042249	NM_005050.4(ABCD4):c.543-17CT[4]	ABCD4	Microsatellite (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2041461	NM_005050.4(ABCD4):c.754A>G (p.Arg252Gly)	ABCD4 (R114G +7 more)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2038444	NM_005050.4(ABCD4):c.1419+15G>A	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2022817	NM_005050.4(ABCD4):c.814+13G>A	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2017366	NM_005050.4(ABCD4):c.1420-11dup	ABCD4	Duplication (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GBenign
Select item 1997709	NM_005050.4(ABCD4):c.1190C>G (p.Pro397Arg)	ABCD4 (P238R +8 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 1992231	NM_005050.4(ABCD4):c.1265A>G (p.Asn422Ser)	ABCD4 (N159S +8 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 1988156	NM_005050.4(ABCD4):c.1357C>T (p.Pro453Ser)	ABCD4 (P190S +8 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 1987203	NM_005050.4(ABCD4):c.38+16G>A	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 1985997	NM_005050.4(ABCD4):c.469C>G (p.Leu157Val)	ABCD4 (S20R +3 more)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 1985285	NM_005050.4(ABCD4):c.1028+9G>T	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 1970444	NM_005050.4(ABCD4):c.1188C>A (p.Ala396=)	ABCD4	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 1966035	NM_005050.4(ABCD4):c.1467T>A (p.Asp489Glu)	ABCD4 (D351E +8 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 1961050	NM_005050.4(ABCD4):c.1715C>T (p.Thr572Met)	ABCD4 (T413M +8 more)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 1955401	NM_005050.4(ABCD4):c.537C>T (p.Phe179=)	ABCD4 (S43F)	Single nucleotide variant (synonymous variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 1953954	NM_005050.4(ABCD4):c.1050G>A (p.Thr350=)	ABCD4	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 1946809	NM_005050.4(ABCD4):c.511C>T (p.Leu171Phe)	ABCD4 (L171F +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1946729	NM_005050.4(ABCD4):c.619C>A (p.Pro207Thr)	ABCD4 (P69T +4 more)	Single nucleotide variant (missense variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 1941455	NM_005050.4(ABCD4):c.1213_1214dup (p.Asp406fs)	ABCD4 (D319fs +7 more)	Duplication (frameshift variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GPathogenic
Select item 1937833	NM_005050.4(ABCD4):c.505T>C (p.Phe169Leu)	ABCD4 (F10L +3 more)	Single nucleotide variant (missense variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ +1 more	GUncertain significance
Select item 1933569	NM_005050.4(ABCD4):c.716A>G (p.Tyr239Cys)	ABCD4 (Y196C +6 more)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance

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