HMBS[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	ABCG4, APOA1 +355 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	MPZL3, MSANTD2 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC129390375, LOC129390376 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	POU2F3, PRDM10 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	ABCG4, ACAD8 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130006854, LOC130006855 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 148415	GRCh38/hg38 11q23.3(chr11:118933083-119215291)x3	ABCG4, C2CD2L +40 more	Copy number gain	See cases	GLikely benign
Select item 545140	Single allele	LOC130007028, LOC130007029 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 2857909	NC_000011.10:g.119084594_119084596del	HMBS	Deletion	not provided	GUncertain significance
Select item 1952643	NC_000011.10:g.119084593G>A	HMBS	Single nucleotide variant	not provided	GUncertain significance
Select item 1407083	NC_000011.10:g.119084594_119084607del	HMBS	Deletion	not provided	GUncertain significance
Select item 1903846	NC_000011.10:g.119084594T>G	HMBS	Single nucleotide variant	not provided	GUncertain significance
Select item 2807964	NC_000011.10:g.119084598_119084600del	HMBS	Deletion	not provided	GUncertain significance
Select item 2802056	NC_000011.10:g.119084595G>T	HMBS	Single nucleotide variant	not provided	GUncertain significance
Select item 2104562	NC_000011.10:g.119084600del	HMBS	Deletion	not provided	GUncertain significance
Select item 1168307	NC_000011.10:g.119084604G>A	HMBS	Single nucleotide variant	not provided	GBenign
Select item 1924003	NC_000011.10:g.119084607G>T	HMBS	Single nucleotide variant	not provided	GUncertain significance
Select item 1165371	NC_000011.10:g.119084613G>A	HMBS	Single nucleotide variant	HMBS-related condition +1 more	GBenign
Select item 1437315	NC_000011.10:g.119084703C>T	HMBS	Single nucleotide variant	not provided	GUncertain significance
Select item 1377827	NC_000011.10:g.119084703C>G	HMBS	Single nucleotide variant	not provided	GUncertain significance
Select item 255484	NM_000190.3(HMBS):c.-235T>A	HMBS	Single nucleotide variant	not provided +1 more	GBenign
Select item 1481	NC_000011.10:g.119084880del	HMBS	Deletion	Porphyria, acute intermittent, nonerythroid variant	GPathogenic
Select item 750595	NM_000190.4(HMBS):c.-103C>T	HMBS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 302723	NM_000190.4(HMBS):c.-65C>T	HMBS	Single nucleotide variant (5 prime UTR variant +1 more)	Acute intermittent porphyria	GBenign
Select item 302724	NM_000190.4(HMBS):c.-28A>C	HMBS	Single nucleotide variant (5 prime UTR variant +1 more)	Acute intermittent porphyria +2 more	GConflicting classifications of pathogenicity
Select item 1484	NM_000190.4(HMBS):c.1A>G (p.Met1Val)	HMBS (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2179942	NM_000190.4(HMBS):c.4T>C (p.Ser2Pro)	HMBS (S2P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 931844	NM_000190.4(HMBS):c.13G>A (p.Gly5Ser)	HMBS (G5S)	Single nucleotide variant (missense variant +1 more)	Acute intermittent porphyria	GUncertain significance
Select item 2360149	NM_000190.4(HMBS):c.22G>A (p.Ala8Thr)	HMBS (A8T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2128292	NM_000190.4(HMBS):c.25G>A (p.Ala9Thr)	HMBS (A9T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 510995	NM_000190.4(HMBS):c.26C>A (p.Ala9Glu)	HMBS (A9E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1997298	NM_000190.4(HMBS):c.27A>G (p.Ala9=)	HMBS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2072857	NM_000190.4(HMBS):c.29C>T (p.Thr10Met)	HMBS (T10M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 755011	NM_000190.4(HMBS):c.30G>A (p.Thr10=)	HMBS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1549134	NM_000190.4(HMBS):c.31G>A (p.Ala11Thr)	HMBS (A11T)	Single nucleotide variant (missense variant +1 more)	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 640707	NM_000190.4(HMBS):c.33G>C (p.Ala11=)	HMBS	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1444	NM_000190.4(HMBS):c.33+1G>T	HMBS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1441	NM_000190.4(HMBS):c.33+1G>A	HMBS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 944483	NM_000190.4(HMBS):c.33+2T>G	HMBS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2065600	NM_000190.4(HMBS):c.33+8C>G	HMBS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1929982	NM_000190.4(HMBS):c.33+9T>C	HMBS	Single nucleotide variant (non-coding transcript variant +1 more)	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 1621130	NM_000190.4(HMBS):c.33+15G>A	HMBS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1936409	NM_000190.4(HMBS):c.33+18G>A	HMBS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1657993	NM_000190.4(HMBS):c.33+20C>G	HMBS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 445546	NM_000190.4(HMBS):c.33+123_33+135del	HMBS	Deletion (intron variant)	not provided	GLikely benign
Select item 2137260	NM_000190.4(HMBS):c.33+669A>G	HMBS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1246575	NM_000190.4(HMBS):c.34-96G>T	HMBS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3042947	NM_000190.4(HMBS):c.34-25T>C	HMBS	Single nucleotide variant (intron variant)	HMBS-related condition	GLikely benign
Select item 1551425	NM_000190.4(HMBS):c.34-16G>A	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788354	NM_000190.4(HMBS):c.34-9T>A	HMBS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1895827	NM_000190.4(HMBS):c.34-3C>T	HMBS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1979471	NM_000190.4(HMBS):c.35A>C (p.Glu12Ala)	HMBS (E12A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2627315	NM_000190.4(HMBS):c.38A>G (p.Glu13Gly)	HMBS (E13G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1482	NM_000190.4(HMBS):c.41del (p.Asn14fs)	HMBS (N14fs)	Deletion (frameshift variant +1 more)	Porphyria, acute intermittent, nonerythroid variant	GPathogenic
Select item 1670199	NM_000190.4(HMBS):c.42C>T (p.Asn14=)	HMBS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1073693	NM_000190.4(HMBS):c.57_58del (p.Arg19fs)	HMBS (R19fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2124836	NM_000190.4(HMBS):c.56G>C (p.Arg19Thr)	HMBS (R2T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 947652	NM_000190.4(HMBS):c.61A>T (p.Ile21Phe)	HMBS (I21F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1333920	NM_000190.4(HMBS):c.64C>T (p.Arg22Cys)	HMBS (R5C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1465987	NM_000190.4(HMBS):c.65G>A (p.Arg22His)	HMBS (R5H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1528776	NM_000190.4(HMBS):c.66C>T (p.Arg22=)	HMBS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1309502	NM_000190.4(HMBS):c.67G>A (p.Val23Met)	HMBS (V23M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	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 2705416	NM_000190.4(HMBS):c.71G>T (p.Gly24Val)	HMBS (G24V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2137261	NM_000190.4(HMBS):c.71G>A (p.Gly24Asp)	HMBS (G24D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1538307	NM_000190.4(HMBS):c.75C>T (p.Thr25=)	HMBS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 645443	NM_000190.4(HMBS):c.76C>T (p.Arg26Cys)	HMBS (R26C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 945373	NM_000190.4(HMBS):c.77G>C (p.Arg26Pro)	HMBS (R26P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 665873	NM_000190.4(HMBS):c.77G>T (p.Arg26Leu)	HMBS (R9L +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1443	NM_000190.4(HMBS):c.77G>A (p.Arg26His)	HMBS (R26H +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1946762	NM_000190.4(HMBS):c.84C>T (p.Ser28=)	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 1507808	NM_000190.4(HMBS):c.87+2_87+4del	HMBS	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 1458075	NM_000190.4(HMBS):c.87+1G>A	HMBS	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1458076	NM_000190.4(HMBS):c.87+2T>G	HMBS	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2786115	NM_000190.4(HMBS):c.87+4G>A	HMBS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1643666	NM_000190.4(HMBS):c.87+13G>T	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810686	NM_000190.4(HMBS):c.87+14C>T	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906554	NM_000190.4(HMBS):c.87+15C>T	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1966052	NM_000190.4(HMBS):c.87+16G>A	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246134	NM_000190.4(HMBS):c.88-65T>C	HMBS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2627478	NM_000190.4(HMBS):c.88-27_88-12del	HMBS	Deletion (intron variant)	Acute intermittent porphyria	GUncertain significance
Select item 255487	NM_000190.4(HMBS):c.88-14G>A	HMBS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2717406	NM_000190.4(HMBS):c.88-9T>C	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732380	NM_000190.4(HMBS):c.88-7C>T	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898464	NM_000190.4(HMBS):c.88-5C>T	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2066694	NM_000190.4(HMBS):c.88-4G>A	HMBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1387585	NM_000190.4(HMBS):c.88-3C>T	HMBS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2735767	NM_000190.4(HMBS):c.88-2A>G	HMBS	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1454	NM_000190.4(HMBS):c.91G>A (p.Ala31Thr)	HMBS (A31T +1 more)	Single nucleotide variant (missense variant)	Acute intermittent porphyria	GPathogenic
Select item 1898948	NM_000190.4(HMBS):c.94C>T (p.Arg32Cys)	HMBS (R32C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2772127	NM_000190.4(HMBS):c.95G>T (p.Arg32Leu)	HMBS (R32L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1957439	NM_000190.4(HMBS):c.95G>A (p.Arg32His)	HMBS (R15H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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