plant mucilage - ClinVar - NCBI

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The following term was not found in ClinVar: mucilage.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 336032	NM_022436.3(ABCG5):c.*357dup	ABCG5, DYNC2LI1	Duplication (3 prime UTR variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2969942	NM_022436.3(ABCG5):c.1913G>A (p.Gly638Glu)	ABCG5, DYNC2LI1 (G638E)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 1684420	NM_022436.3(ABCG5):c.1890del (p.Phe630fs)	ABCG5, DYNC2LI1 (F630fs)	Deletion (frameshift variant +1 more)	Sitosterolemia 2 +2 more	GConflicting classifications of pathogenicity
Select item 2199424	NM_022436.3(ABCG5):c.1886C>G (p.Ser629Ter)	DYNC2LI1, ABCG5 (S629*)	Single nucleotide variant (nonsense +1 more)	Sitosterolemia	GPathogenic
Select item 1145752	NM_022436.3(ABCG5):c.1878T>C (p.Ile626=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia	GLikely benign
Select item 594348	NM_022436.3(ABCG5):c.1870T>C (p.Phe624Leu)	ABCG5, DYNC2LI1 (F624L)	Single nucleotide variant (missense variant +1 more)	Thrombocytopenia +4 more	GUncertain significance
Select item 194262	NM_022436.3(ABCG5):c.1864A>G (p.Met622Val)	ABCG5, DYNC2LI1 (M622V)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 1 +5 more	GBenign/Likely benign
Select item 854673	NM_022436.3(ABCG5):c.1856G>C (p.Arg619Thr)	ABCG5, DYNC2LI1 (R619T)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +2 more	GUncertain significance
Select item 642703	NM_022436.3(ABCG5):c.1838G>A (p.Cys613Tyr)	ABCG5, DYNC2LI1 (C613Y)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 336036	NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu)	DYNC2LI1, ABCG5 (Q604E)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 593731	NM_022436.3(ABCG5):c.1806C>T (p.Phe602=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2502210	NM_022436.3(ABCG5):c.1799G>A (p.Cys600Tyr)	ABCG5, DYNC2LI1 (C600Y)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 2987013	NM_022436.3(ABCG5):c.1776T>G (p.Val592=)	DYNC2LI1, ABCG5	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia	GLikely benign
Select item 1446253	NM_022436.3(ABCG5):c.1775T>C (p.Val592Ala)	ABCG5, DYNC2LI1 (V592A)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2722141	NM_022436.3(ABCG5):c.1763-1G>A	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant +1 more)	Sitosterolemia	GPathogenic
Select item 194263	NM_022436.3(ABCG5):c.1763-7T>G	DYNC2LI1, ABCG5	Single nucleotide variant (intron variant)	Sitosterolemia +2 more	GConflicting classifications of pathogenicity
Select item 2887181	NM_022436.3(ABCG5):c.1763-16A>C	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2857888	NM_022436.3(ABCG5):c.1763-18C>T	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2739573	NM_022436.3(ABCG5):c.1762+15T>C	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 1901242	NM_022436.3(ABCG5):c.1762+14T>C	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2910094	NM_022436.3(ABCG5):c.1762+11T>C	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 290953	NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg)	ABCG5, DYNC2LI1 (G582R)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 500473	NM_022436.3(ABCG5):c.1733A>G (p.Asn578Ser)	DYNC2LI1, ABCG5 (N578S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 595767	NM_022436.3(ABCG5):c.1711T>C (p.Cys571Arg)	ABCG5, DYNC2LI1 (C571R)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 2111434	NM_022436.3(ABCG5):c.1681dup (p.Ile561fs)	ABCG5, DYNC2LI1 (I561fs)	Duplication (frameshift variant +1 more)	Sitosterolemia	GPathogenic
Select item 1907244	NM_022436.3(ABCG5):c.1657C>T (p.Gln553Ter)	ABCG5, DYNC2LI1 (Q553*)	Single nucleotide variant (nonsense +1 more)	Sitosterolemia	GPathogenic
Select item 3340084	NM_022436.3(ABCG5):c.1650-2A>T	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2832974	NM_022436.3(ABCG5):c.1650-14T>C	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2910987	NM_022436.3(ABCG5):c.1649+10_1649+12del	ABCG5, DYNC2LI1	Deletion (intron variant)	Sitosterolemia	GLikely benign
Select item 1572683	NM_022436.3(ABCG5):c.1649+9T>A	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 501530	NM_022436.3(ABCG5):c.1621G>T (p.Gly541Trp)	ABCG5, DYNC2LI1 (G541W)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 950594	NM_022436.3(ABCG5):c.1620G>A (p.Ala540=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +1 more	GLikely benign
Select item 2001394	NM_022436.3(ABCG5):c.1606C>T (p.Leu536=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia	GLikely benign
Select item 497801	NM_022436.3(ABCG5):c.1602G>C (p.Val534=)	DYNC2LI1, ABCG5	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1939772	NM_022436.3(ABCG5):c.1593C>A (p.Asn531Lys)	ABCG5, DYNC2LI1 (N531K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 943877	NM_022436.3(ABCG5):c.635-153_1588del	ABCG5, DYNC2LI1	Deletion (intron variant +2 more)	Sitosterolemia	GLikely pathogenic
Select item 2023964	NM_022436.3(ABCG5):c.1573C>T (p.Gln525Ter)	ABCG5, DYNC2LI1 (Q525*)	Single nucleotide variant (nonsense +1 more)	Sitosterolemia	GPathogenic
Select item 284757	NM_022436.3(ABCG5):c.1570G>A (p.Val524Ile)	ABCG5, DYNC2LI1 (V524I)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 1 +3 more	GUncertain significance
Select item 336037	NM_022436.3(ABCG5):c.1569C>T (p.Ile523=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +2 more	GConflicting classifications of pathogenicity
Select item 502765	NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val)	ABCG5, DYNC2LI1 (I523V)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 779657	NM_022436.3(ABCG5):c.1550C>G (p.Thr517Ser)	ABCG5, DYNC2LI1 (T517S)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 1 +4 more	GBenign/Likely benign
Select item 844391	NM_022436.3(ABCG5):c.1537G>C (p.Gly513Arg)	ABCG5, DYNC2LI1 (G513R)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 2903014	NM_022436.3(ABCG5):c.1528dup (p.His510fs)	ABCG5, DYNC2LI1 (H510fs)	Duplication (frameshift variant +1 more)	Sitosterolemia	GPathogenic
Select item 2203052	NM_022436.3(ABCG5):c.1528del (p.His510fs)	DYNC2LI1, ABCG5 (H510fs)	Deletion (frameshift variant +1 more)	Sitosterolemia	GPathogenic
Select item 595462	NM_022436.3(ABCG5):c.1528C>A (p.His510Asn)	ABCG5, DYNC2LI1 (H510N)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 498033	NM_022436.3(ABCG5):c.1528C>G (p.His510Asp)	ABCG5, DYNC2LI1 (H510D)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 2709228	NM_022436.3(ABCG5):c.1527C>T (p.Pro509=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia	GLikely benign
Select item 1774278	NM_022436.3(ABCG5):c.1514C>A (p.Ala505Asp)	ABCG5, DYNC2LI1 (A505D)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 598602	NM_022436.3(ABCG5):c.1500A>G (p.Gly500=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 1665098	NM_022436.3(ABCG5):c.1467G>A (p.Thr489=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia	GLikely benign
Select item 3001337	NM_022436.3(ABCG5):c.1464-16G>A	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 1958717	NM_022436.3(ABCG5):c.1464-17A>G	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2918183	NM_022436.3(ABCG5):c.1463+20A>T	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 1500804	NM_022436.3(ABCG5):c.1462T>C (p.Trp488Arg)	ABCG5, DYNC2LI1 (W488R)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2163760	NM_022436.3(ABCG5):c.1460A>G (p.Tyr487Cys)	ABCG5, DYNC2LI1 (Y487C)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2068768	NM_022436.3(ABCG5):c.1452T>G (p.Ser484Arg)	ABCG5, DYNC2LI1 (S484R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 290857	NM_022436.3(ABCG5):c.1446C>T (p.Phe482=)	DYNC2LI1, ABCG5	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +1 more	GConflicting classifications of pathogenicity
Select item 1772351	NM_022436.3(ABCG5):c.1425C>T (p.Ser475=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +1 more	GLikely benign
Select item 1551118	NM_022436.3(ABCG5):c.1419C>A (p.Pro473=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 336038	NM_022436.3(ABCG5):c.1411G>A (p.Val471Ile)	DYNC2LI1, ABCG5 (V471I)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 529882	NM_022436.3(ABCG5):c.1410C>T (p.His470=)	DYNC2LI1, ABCG5	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 500862	NM_022436.3(ABCG5):c.1398C>T (p.Ala466=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 808732	NM_022436.3(ABCG5):c.1374C>G (p.Tyr458Ter)	ABCG5, DYNC2LI1 (Y458*)	Single nucleotide variant (nonsense +1 more)	Sitosterolemia +2 more	GPathogenic/Likely pathogenic
Select item 726803	NM_022436.3(ABCG5):c.1366G>A (p.Gly456Ser)	ABCG5, DYNC2LI1 (G456S)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GConflicting classifications of pathogenicity
Select item 2146331	NM_022436.3(ABCG5):c.1365C>A (p.Asp455Glu)	ABCG5, DYNC2LI1 (D455E)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 336039	NM_022436.3(ABCG5):c.1365C>T (p.Asp455=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 597928	NM_022436.3(ABCG5):c.1358G>C (p.Ser453Thr)	DYNC2LI1, ABCG5 (S453T)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 1043557	NM_022436.3(ABCG5):c.1348G>C (p.Asp450His)	ABCG5, DYNC2LI1 (D450H)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +2 more	GUncertain significance
Select item 1004734	NM_022436.3(ABCG5):c.1348G>A (p.Asp450Asn)	ABCG5, DYNC2LI1 (D450N)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 501086	NM_022436.3(ABCG5):c.1347C>T (p.Ser449=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 843950	NM_022436.3(ABCG5):c.1337G>A (p.Arg446Gln)	ABCG5, DYNC2LI1 (R446Q)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +2 more	GConflicting classifications of pathogenicity
Select item 30485	NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter)	ABCG5, DYNC2LI1 (R446*)	Single nucleotide variant (nonsense +1 more)	Sitosterolemia +5 more	GPathogenic/Likely pathogenic
Select item 2200694	NM_022436.3(ABCG5):c.1330G>A (p.Val444Met)	ABCG5, DYNC2LI1 (V444M)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 1770078	NM_022436.3(ABCG5):c.1329C>T (p.Pro443=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +2 more	GLikely benign
Select item 631862	NM_022436.3(ABCG5):c.1325-2A>G	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2919657	NM_022436.3(ABCG5):c.1325-4C>G	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 1632009	NM_022436.3(ABCG5):c.1325-8A>G	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2864473	NM_022436.3(ABCG5):c.1324_1324+15del	ABCG5, DYNC2LI1	Deletion (intron variant +1 more)	Sitosterolemia	GLikely pathogenic
Select item 1652651	NM_022436.3(ABCG5):c.1324+13G>A	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 1592897	NM_022436.3(ABCG5):c.1324+11A>G	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 2190161	NM_022436.3(ABCG5):c.1324+8C>T	ABCG5, DYNC2LI1	Single nucleotide variant (intron variant)	Sitosterolemia	GLikely benign
Select item 1468263	NM_022436.3(ABCG5):c.1323_1324+2del	DYNC2LI1, ABCG5	Deletion (intron variant +1 more)	Sitosterolemia	GLikely pathogenic
Select item 289811	NM_022436.3(ABCG5):c.1320T>A (p.Asn440Lys)	ABCG5, DYNC2LI1 (N440K)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 2203054	NM_022436.3(ABCG5):c.1311C>G (p.Asn437Lys)	ABCG5, DYNC2LI1 (N437K)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GLikely pathogenic
Select item 594228	NM_022436.3(ABCG5):c.1311C>T (p.Asn437=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1769164	NM_022436.3(ABCG5):c.1293G>A (p.Pro431=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +1 more	GLikely benign
Select item 962525	NM_022436.3(ABCG5):c.1285G>A (p.Ala429Thr)	ABCG5, DYNC2LI1 (A429T)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 199164	NM_022436.3(ABCG5):c.1284C>T (p.Gly428=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 2889432	NM_022436.3(ABCG5):c.1273C>T (p.Gln425Ter)	DYNC2LI1, ABCG5 (Q425*)	Single nucleotide variant (nonsense +1 more)	Sitosterolemia	GPathogenic
Select item 2139605	NM_022436.3(ABCG5):c.1271A>C (p.Tyr424Ser)	ABCG5, DYNC2LI1 (Y424S)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance
Select item 2057741	NM_022436.3(ABCG5):c.1262G>C (p.Gly421Ala)	ABCG5, DYNC2LI1 (G421A)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia	GUncertain significance
Select item 2082738	NM_022436.3(ABCG5):c.1259T>G (p.Val420Gly)	ABCG5, DYNC2LI1 (V420G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 336040	NM_022436.3(ABCG5):c.1258G>A (p.Val420Ile)	ABCG5, DYNC2LI1 (V420I)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 1 +2 more	GUncertain significance
Select item 499836	NM_022436.3(ABCG5):c.1255C>T (p.Arg419Cys)	ABCG5, DYNC2LI1 (R419C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 497594	NM_022436.3(ABCG5):c.1251G>A (p.Gln417=)	DYNC2LI1, ABCG5	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia 1 +4 more	GConflicting classifications of pathogenicity
Select item 1492861	NM_022436.3(ABCG5):c.1228A>G (p.Asn410Asp)	ABCG5, DYNC2LI1 (N410D)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +2 more	GConflicting classifications of pathogenicity
Select item 785739	NM_022436.3(ABCG5):c.1228A>C (p.Asn410His)	ABCG5, DYNC2LI1 (N410H)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 1 +4 more	GBenign/Likely benign
Select item 4976	NM_022436.3(ABCG5):c.1222C>T (p.Arg408Ter)	ABCG5, DYNC2LI1 (R408*)	Single nucleotide variant (nonsense +1 more)	Sitosterolemia +1 more	GPathogenic/Likely pathogenic
Select item 1093488	NM_022436.3(ABCG5):c.1218G>A (p.Arg406=)	ABCG5, DYNC2LI1	Single nucleotide variant (synonymous variant +1 more)	Sitosterolemia +1 more	GLikely benign
Select item 849750	NM_022436.3(ABCG5):c.1216C>T (p.Arg406Trp)	DYNC2LI1, ABCG5 (R406W)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia +1 more	GUncertain significance

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