ClinVar for Gene (Select 3145) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381074	NM_000190.4(HMBS):c.601del (p.Arg201fs)	HMBS (R146fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3381073	NM_000190.4(HMBS):c.85del (p.Gln29fs)	HMBS (Q12fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 3380053	NM_000190.4(HMBS):c.499-15A>C	HMBS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3366989	NM_000190.4(HMBS):c.160_160+1del	HMBS	Deletion (5 prime UTR variant +1 more)	Acute intermittent porphyria	GPathogenic
Select item 3362598	NM_000190.4(HMBS):c.760del (p.Phe253_Leu254insTer)	HMBS	Deletion (nonsense +1 more)	Acute intermittent porphyria	GPathogenic
Select item 3342447	NM_000190.4(HMBS):c.541C>T (p.Gln181Ter)	HMBS (Q126* +4 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3254787	NM_000190.4(HMBS):c.9_33+11del	HMBS	Deletion (5 prime UTR variant +1 more)	Acute intermittent porphyria	GPathogenic
Select item 3244710	NC_000011.9:g.(?_118007742)_(119170491_?)del	ABCG4, ARCN1 +36 more	Deletion	not provided	GPathogenic
Select item 3244705	NC_000011.9:g.(?_118007742)_(119170491_?)dup	ABCG4, ARCN1 +36 more	Duplication	Atrial fibrillation, familial, 14	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3068582	NM_000190.4(HMBS):c.772-2A>G	HMBS	Single nucleotide variant (splice acceptor variant)	Acute intermittent porphyria	GPathogenic
Select item 3065410	NM_000190.4(HMBS):c.413C>T (p.Pro138Leu)	HMBS (P120L +4 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria	GLikely pathogenic
Select item 3063756	NM_000190.4(HMBS):c.232A>G (p.Thr78Ala)	HMBS (T23A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042947	NM_000190.4(HMBS):c.34-25T>C	HMBS	Single nucleotide variant (intron variant)	HMBS-related disorder	GLikely benign
Select item 3024100	NM_000190.4(HMBS):c.251C>A (p.Ala84Asp)	HMBS (A84D +4 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, porphyria-related	GPathogenic
Select item 3023266	NM_000190.4(HMBS):c.423-3C>T	HMBS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3021851	NM_000190.4(HMBS):c.1074C>T (p.Asn358=)	HMBS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021708	NM_000190.4(HMBS):c.542A>G (p.Gln181Arg)	HMBS (Q126R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014311	NM_000190.4(HMBS):c.161-10C>G	HMBS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3013556	NM_000190.4(HMBS):c.74C>T (p.Thr25Ile)	HMBS (T8I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012496	NM_000190.4(HMBS):c.1009A>T (p.Ser337Cys)	HMBS (S282C +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011987	NM_000190.4(HMBS):c.788T>C (p.Val263Ala)	HMBS (V205A +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008979	NM_000190.4(HMBS):c.573T>C (p.Ala191=)	HMBS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007088	NM_000190.4(HMBS):c.160+16A>G	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006677	NM_000190.4(HMBS):c.423-20T>C	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004630	NM_000190.4(HMBS):c.345-7C>G	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003531	NM_000190.4(HMBS):c.594G>C (p.Trp198Cys)	HMBS (W181C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001557	NM_000190.4(HMBS):c.651+6C>G	HMBS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2999669	NM_000190.4(HMBS):c.612+19C>G	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999475	NM_000190.4(HMBS):c.826-6C>T	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998393	NM_000190.4(HMBS):c.291G>A (p.Leu97=)	HMBS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996122	NM_000190.4(HMBS):c.703G>A (p.Val235Met)	HMBS (V180M +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2993825	NM_000190.4(HMBS):c.367G>A (p.Val123Ile)	HMBS (V68I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993379	NM_000190.4(HMBS):c.771+13C>A	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992055	NM_000190.4(HMBS):c.123A>T (p.Thr41=)	HMBS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990546	NM_000190.4(HMBS):c.412C>T (p.Pro138Ser)	HMBS (P138S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990460	NM_000190.4(HMBS):c.678C>G (p.Ala226=)	HMBS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2989344	NM_000190.4(HMBS):c.525G>A (p.Arg175=)	HMBS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989241	NM_000190.4(HMBS):c.422+8G>A	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988259	NM_000190.4(HMBS):c.160+16del	HMBS	Deletion (intron variant)	not provided	GLikely benign
Select item 2985489	NM_000190.4(HMBS):c.912+18C>A	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975672	NM_000190.4(HMBS):c.241C>T (p.Leu81Phe)	HMBS (L63F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974705	NM_000190.4(HMBS):c.201A>T (p.Ala67=)	HMBS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973625	NM_000190.4(HMBS):c.345-11T>G	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972692	NM_000190.4(HMBS):c.571G>C (p.Ala191Pro)	HMBS (A136P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972320	NM_000190.4(HMBS):c.201A>G (p.Ala67=)	HMBS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970904	NM_000190.4(HMBS):c.825+19G>A	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969766	NM_000190.4(HMBS):c.561C>T (p.Ile187=)	HMBS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969631	NM_000190.4(HMBS):c.647G>C (p.Gly216Ala)	HMBS (G198A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969083	NM_000190.4(HMBS):c.613-13T>C	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965927	NM_000190.4(HMBS):c.33+10G>C	HMBS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2965335	NM_000190.4(HMBS):c.161-16_161-13del	HMBS	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2964657	NM_000190.4(HMBS):c.544_546del (p.Glu182del)	HMBS (E165del +4 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2962779	NM_000190.4(HMBS):c.718G>A (p.Asp240Asn)	HMBS (D222N +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2960900	NM_000190.4(HMBS):c.267-15C>T	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958772	NM_000190.4(HMBS):c.913-18C>T	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956407	NM_000190.4(HMBS):c.613-19C>T	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900862	NM_000190.4(HMBS):c.483G>A (p.Leu161=)	HMBS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900515	NM_000190.4(HMBS):c.858C>T (p.Asp286=)	HMBS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897155	NM_000190.4(HMBS):c.825+18G>A	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895844	NM_000190.4(HMBS):c.866A>C (p.Asp289Ala)	HMBS (D232A +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880296	NM_000190.4(HMBS):c.161-4T>G	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878393	NM_000190.4(HMBS):c.651+20C>T	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875712	NM_000190.4(HMBS):c.612+14C>G	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874189	NM_000190.4(HMBS):c.600C>A (p.Asn200Lys)	HMBS (N183K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873145	NM_000190.4(HMBS):c.489C>G (p.Phe163Leu)	HMBS (F108L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870286	NM_000190.4(HMBS):c.105G>A (p.Thr35=)	HMBS	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2870102	NM_000190.4(HMBS):c.651+13A>G	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858068	NM_000190.4(HMBS):c.825+15del	HMBS	Deletion (intron variant)	not provided	GLikely benign
Select item 2857909	NC_000011.10:g.119084594_119084596del	HMBS	Deletion	not provided	GUncertain significance
Select item 2853156	NM_000190.4(HMBS):c.826-14G>C	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852176	NM_000190.4(HMBS):c.462G>A (p.Leu154=)	HMBS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846906	NM_000190.4(HMBS):c.32C>T (p.Ala11Val)	HMBS (A11V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2840278	NM_000190.4(HMBS):c.267-10A>G	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837943	NM_000190.4(HMBS):c.612+13C>T	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835560	NM_000190.4(HMBS):c.716_717dup (p.Asp240fs)	HMBS (D223fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2833884	NM_000190.4(HMBS):c.651+15_651+22del	HMBS	Deletion (intron variant)	not provided	GLikely benign
Select item 2832305	NM_000190.4(HMBS):c.269T>C (p.Val90Ala)	HMBS (V35A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827778	NM_000190.4(HMBS):c.266+11A>G	HMBS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2827111	NM_000190.4(HMBS):c.164C>G (p.Ala55Gly)	HMBS (A38G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2826794	NM_000190.4(HMBS):c.908C>T (p.Ala303Val)	HMBS (A300V +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824998	NM_000190.4(HMBS):c.71del (p.Gly24fs)	HMBS (G24fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2824953	NM_000190.4(HMBS):c.915T>C (p.His305=)	HMBS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816209	NM_000190.4(HMBS):c.647G>T (p.Gly216Val)	HMBS (G161V +4 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2815898	NM_000190.4(HMBS):c.382A>T (p.Lys128Ter)	HMBS (K128* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2812785	NM_000190.4(HMBS):c.1083T>C (p.His361=)	HMBS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812530	NM_000190.4(HMBS):c.86A>G (p.Gln29Arg)	HMBS (Q12R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810686	NM_000190.4(HMBS):c.87+14C>T	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810199	NM_000190.4(HMBS):c.826-3del	HMBS	Deletion (intron variant)	not provided	GBenign
Select item 2807964	NC_000011.10:g.119084598_119084600del	HMBS	Deletion	not provided	GUncertain significance
Select item 2807181	NM_000190.4(HMBS):c.912+4C>G	HMBS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2805510	NM_000190.4(HMBS):c.210+9A>T	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805339	NM_000190.4(HMBS):c.509T>A (p.Leu170His)	HMBS (L164H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802567	NM_000190.4(HMBS):c.811A>T (p.Met271Leu)	HMBS (M231L +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802056	NC_000011.10:g.119084595G>T	HMBS	Single nucleotide variant	not provided	GUncertain significance
Select item 2800850	NM_000190.4(HMBS):c.345-6C>A	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796602	NM_000190.4(HMBS):c.951C>G (p.Gly317=)	HMBS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792989	NM_000190.4(HMBS):c.977G>A (p.Gly326Glu)	HMBS (G286E +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788354	NM_000190.4(HMBS):c.34-9T>A	HMBS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2786880	NM_000190.4(HMBS):c.423-8C>T	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign

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