ClinVar for MedGen (Select 436642) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3018636	NM_006087.4(TUBB4A):c.436G>A (p.Gly146Arg)	TUBB4A (G74R +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 3001566	NM_006087.4(TUBB4A):c.1131G>A (p.Leu377=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2995595	NM_006087.4(TUBB4A):c.480A>G (p.Pro160=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2991299	NM_006087.4(TUBB4A):c.909C>T (p.Cys303=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2986283	NM_006087.4(TUBB4A):c.953G>A (p.Arg318Gln)	TUBB4A (R318Q +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2963795	NM_006087.4(TUBB4A):c.1045G>A (p.Val349Met)	TUBB4A (V400M +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2963390	NM_006087.4(TUBB4A):c.1080C>A (p.Gly360=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2955262	NM_006087.4(TUBB4A):c.369G>A (p.Glu123=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2915277	NM_006087.4(TUBB4A):c.57+11A>G	LOC130063295, TUBB4A	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2913815	NM_006087.4(TUBB4A):c.810C>T (p.Phe270=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2908996	NM_006087.4(TUBB4A):c.721C>T (p.Arg241Cys)	TUBB4A (R241C +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2904376	NM_006087.4(TUBB4A):c.343G>A (p.Ala115Thr)	TUBB4A (A115T +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2900834	NM_006087.4(TUBB4A):c.1024G>A (p.Val342Met)	TUBB4A (V270M +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2898366	NM_006087.4(TUBB4A):c.618A>G (p.Ala206=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2895757	NM_006087.4(TUBB4A):c.1038C>A (p.Pro346=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2885402	NM_006087.4(TUBB4A):c.552C>T (p.Asn184=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2874297	NM_006087.4(TUBB4A):c.1196C>T (p.Thr399Met)	TUBB4A (T327M +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2865613	NM_006087.4(TUBB4A):c.415C>T (p.Leu139=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2852798	NM_006087.4(TUBB4A):c.903G>A (p.Ala301=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2843042	NM_006087.4(TUBB4A):c.755A>G (p.Lys252Arg)	TUBB4A (K297R +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GPathogenic
Select item 2834880	NM_006087.4(TUBB4A):c.1078G>C (p.Gly360Arg)	TUBB4A (G405R +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2819392	NM_006087.4(TUBB4A):c.102C>T (p.Gly34=)	TUBB4A	Single nucleotide variant (synonymous variant +1 more)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2816328	NM_006087.4(TUBB4A):c.414G>A (p.Ser138=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2800381	NM_006087.4(TUBB4A):c.411C>T (p.His137=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2761007	NM_006087.4(TUBB4A):c.278-14C>T	TUBB4A	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2752811	NM_006087.4(TUBB4A):c.24G>T (p.Gln8His)	LOC130063295, TUBB4A (Q8H +2 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2747953	NM_006087.4(TUBB4A):c.166+9A>G	TUBB4A	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2742251	NM_006087.4(TUBB4A):c.1198G>A (p.Gly400Ser)	TUBB4A (G400S +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2738501	NM_006087.4(TUBB4A):c.189G>T (p.Ala63=)	TUBB4A	Single nucleotide variant (synonymous variant +1 more)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2733084	NM_006087.4(TUBB4A):c.936C>T (p.Thr312=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2723541	NM_006087.4(TUBB4A):c.1216A>T (p.Met406Leu)	TUBB4A (M334L +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2721401	NM_006087.4(TUBB4A):c.996C>T (p.Ser332=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2671667	NM_001289123.2(TUBB4A):c.10G>A (p.Gly4Arg)	TUBB4A (G4R)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2578225	NM_006087.4(TUBB4A):c.902C>T (p.Ala301Val)	TUBB4A (A229V +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6 +1 more	GUncertain significance
Select item 2442020	NM_006087.4(TUBB4A):c.211G>A (p.Gly71Ser)	TUBB4A (G116S +2 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 6	GLikely pathogenic
Select item 2431596	NM_006087.4(TUBB4A):c.740A>T (p.Asn247Ile)	TUBB4A (N175I +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2425510	NC_000019.9:g.(?_6495175)_(6502223_?)del	TUBB4A	Deletion	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2425509	NC_000019.9:g.(?_6495175)_(6496252_?)del	TUBB4A	Deletion	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2413474	NM_006087.4(TUBB4A):c.1206C>T (p.Gly402=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2203588	NM_006087.4(TUBB4A):c.1316_1327del (p.Ala439_Glu442del)	TUBB4A	Deletion (inframe_deletion)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2197979	NM_006087.4(TUBB4A):c.1093G>A (p.Ala365Thr)	TUBB4A (A416T +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2197833	NM_006087.4(TUBB4A):c.882C>T (p.Phe294=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2195059	NM_006087.4(TUBB4A):c.466C>T (p.Arg156Cys)	TUBB4A (R201C +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2194271	NM_006087.4(TUBB4A):c.157G>A (p.Glu53Lys)	TUBB4A (E104K +2 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2183933	NM_006087.4(TUBB4A):c.1104C>T (p.Ile368=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2183154	NM_006087.4(TUBB4A):c.906G>C (p.Ala302=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2165592	NM_006087.4(TUBB4A):c.954G>C (p.Arg318=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2157076	NM_006087.4(TUBB4A):c.58-12CT[4]	TUBB4A	Microsatellite (intron variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2150798	NM_006087.4(TUBB4A):c.1331C>T (p.Ala444Val)	TUBB4A (A489V +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2146314	NM_006087.4(TUBB4A):c.606C>T (p.Ile202=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2145108	NM_006087.4(TUBB4A):c.852G>A (p.Leu284=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2138804	NM_006087.4(TUBB4A):c.162C>T (p.Ala54=)	TUBB4A	Single nucleotide variant (synonymous variant +1 more)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2135411	NM_006087.4(TUBB4A):c.1060T>A (p.Cys354Ser)	TUBB4A (C282S +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2124806	NM_006087.4(TUBB4A):c.737T>C (p.Leu246Pro)	TUBB4A (L174P +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GPathogenic
Select item 2124259	NM_006087.4(TUBB4A):c.914C>T (p.Pro305Leu)	TUBB4A (P233L +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2088520	NM_006087.4(TUBB4A):c.577G>A (p.Val193Met)	TUBB4A (V244M +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2083605	NM_006087.4(TUBB4A):c.166+8G>A	TUBB4A	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2068907	NM_006087.4(TUBB4A):c.414G>T (p.Ser138=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2062405	NM_006087.4(TUBB4A):c.36C>T (p.Cys12=)	LOC130063295, TUBB4A	Single nucleotide variant (synonymous variant +2 more)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2062230	NM_006087.4(TUBB4A):c.234T>C (p.Ser78=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2055825	NM_006087.4(TUBB4A):c.429G>A (p.Thr143=)	TUBB4A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2033779	NM_006087.4(TUBB4A):c.535G>A (p.Val179Met)	TUBB4A (V224M +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2019194	NM_006087.4(TUBB4A):c.387C>T (p.Cys129=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1998909	NM_006087.4(TUBB4A):c.375G>T (p.Glu125Asp)	TUBB4A (E170D +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 1998908	NM_006087.4(TUBB4A):c.468C>G (p.Arg156=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1988060	NM_006087.4(TUBB4A):c.805G>A (p.Gly269Ser)	TUBB4A (G269S +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1979410	NM_006087.4(TUBB4A):c.998T>C (p.Val333Ala)	TUBB4A (V261A +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 1959383	NM_006087.4(TUBB4A):c.373G>C (p.Glu125Gln)	TUBB4A (E170Q +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 1921293	NM_006087.4(TUBB4A):c.597C>T (p.Thr199=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1920424	NM_006087.4(TUBB4A):c.1074C>T (p.Pro358=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1904515	NM_006087.4(TUBB4A):c.1125G>A (p.Gln375=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1805115	NM_006087.4(TUBB4A):c.493A>G (p.Asn165Asp)	TUBB4A (N165D +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GLikely pathogenic
Select item 1720102	NM_006087.4(TUBB4A):c.664T>G (p.Tyr222Asp)	TUBB4A (Y150D +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 1694453	NM_006087.4(TUBB4A):c.544C>T (p.Pro182Ser)	TUBB4A (P110S +3 more)	Single nucleotide variant (missense variant)	Torsion dystonia 4 +1 more	GLikely pathogenic
Select item 1691278	NM_006087.4(TUBB4A):c.362G>A (p.Arg121Gln)	TUBB4A (R121Q +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 1665891	NM_006087.4(TUBB4A):c.354C>T (p.Asp118=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1665795	NM_006087.4(TUBB4A):c.639C>T (p.Arg213=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1662579	NM_006087.4(TUBB4A):c.1281C>T (p.Asp427=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1662223	NM_006087.4(TUBB4A):c.144C>T (p.Asn48=)	TUBB4A	Single nucleotide variant (synonymous variant +1 more)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1661706	NM_006087.4(TUBB4A):c.774T>A (p.Val258=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1653518	NM_006087.4(TUBB4A):c.336G>T (p.Leu112=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1652352	NM_006087.4(TUBB4A):c.714C>T (p.Thr238=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1651983	NM_006087.4(TUBB4A):c.804C>T (p.Pro268=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1651972	NM_006087.4(TUBB4A):c.930C>T (p.Tyr310=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1649971	NM_006087.4(TUBB4A):c.156C>T (p.Asn52=)	TUBB4A	Single nucleotide variant (synonymous variant +1 more)	Hypomyelinating leukodystrophy 6 +1 more	GLikely benign
Select item 1630762	NM_006087.4(TUBB4A):c.57+7G>C	LOC130063295, TUBB4A	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1627486	NM_006087.4(TUBB4A):c.1029G>A (p.Glu343=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1621791	NM_006087.4(TUBB4A):c.816C>A (p.Pro272=)	TUBB4A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1620015	NM_006087.4(TUBB4A):c.1077C>T (p.Arg359=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1619561	NM_006087.4(TUBB4A):c.349C>T (p.Leu117=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1616635	NM_006087.4(TUBB4A):c.381C>T (p.Cys127=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1600019	NM_006087.4(TUBB4A):c.57+12A>G	LOC130063295, TUBB4A	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 6	GBenign
Select item 1597132	NM_006087.4(TUBB4A):c.321G>A (p.Thr107=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1590968	NM_006087.4(TUBB4A):c.1146C>T (p.Ser382=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1589793	NM_006087.4(TUBB4A):c.167-16_167-13del	TUBB4A	Deletion (intron variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1585239	NM_006087.4(TUBB4A):c.57+13C>T	LOC130063295, TUBB4A	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1580606	NM_006087.4(TUBB4A):c.243C>T (p.Phe81=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1571122	NM_006087.4(TUBB4A):c.1071G>A (p.Pro357=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1569277	NM_006087.4(TUBB4A):c.1317G>A (p.Ala439=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 1550956	NM_006087.4(TUBB4A):c.57+20C>T	LOC130063295, TUBB4A	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 6	GBenign

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