"PreventionGenetics, part of Exact Sciences"[submitter] AND "GREB1L"[g - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3042873	NM_001142966.3(GREB1L):c.-7G>A	GREB1L, LOC101927521	Single nucleotide variant (5 prime UTR variant)	GREB1L-related disorder	GBenign
Select item 2040799	NM_001142966.3(GREB1L):c.159T>C (p.Asp53=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1914947	NM_001142966.3(GREB1L):c.166C>A (p.Pro56Thr)	GREB1L, LOC101927521 (P56T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2432267	NM_001142966.3(GREB1L):c.203G>T (p.Arg68Leu)	GREB1L, LOC101927521 (R68L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 917910	NM_001142966.3(GREB1L):c.277G>A (p.Glu93Lys)	GREB1L, LOC101927521 (E93K)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 3 +3 more	GConflicting classifications of pathogenicity
Select item 2631696	NM_001142966.3(GREB1L):c.532+5G>A	GREB1L, LOC101927521	Single nucleotide variant (intron variant)	GREB1L-related disorder	GUncertain significance
Select item 3030149	NM_001142966.3(GREB1L):c.783C>T (p.Thr261=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant)	GREB1L-related disorder	GLikely benign
Select item 2629744	NM_001142966.3(GREB1L):c.875C>T (p.Ala292Val)	GREB1L, LOC101927521 (A292V +1 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 2632375	NM_001142966.3(GREB1L):c.920C>T (p.Pro307Leu)	GREB1L, LOC101927521 (P307L +1 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 2630028	NM_001142966.3(GREB1L):c.974C>T (p.Pro325Leu)	LOC101927521, GREB1L (P325L +1 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 2084258	NM_001142966.3(GREB1L):c.1062A>G (p.Ser354=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3061207	NM_001142966.3(GREB1L):c.1171C>G (p.Leu391Val)	GREB1L, LOC101927521 (L391V +1 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 3043484	NM_001142966.3(GREB1L):c.1208-9T>C	GREB1L, LOC101927521	Single nucleotide variant (intron variant)	GREB1L-related disorder	GLikely benign
Select item 3049898	NM_001142966.3(GREB1L):c.1278C>G (p.Cys426Trp)	GREB1L, LOC101927521 (C426W +1 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GLikely benign
Select item 1564057	NM_001142966.3(GREB1L):c.1330G>A (p.Gly444Ser)	GREB1L, LOC101927521 (G444S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2628943	NM_001142966.3(GREB1L):c.1348G>A (p.Val450Met)	GREB1L, LOC101927521 (V450M +1 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 2066798	NM_001142966.3(GREB1L):c.1388G>A (p.Arg463Gln)	GREB1L, LOC101927521 (R463Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2056022	NM_001142966.3(GREB1L):c.1394-6A>G	GREB1L, LOC101927521	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2637112	NM_001142966.3(GREB1L):c.1505T>C (p.Val502Ala)	GREB1L, LOC101927521 (V502A +1 more)	Single nucleotide variant (missense variant +1 more)	GREB1L-related disorder	GUncertain significance
Select item 3060010	NM_001142966.3(GREB1L):c.1662T>C (p.Tyr554=)	GREB1L, LOC101927521	Single nucleotide variant (synonymous variant +1 more)	GREB1L-related disorder	GLikely benign
Select item 3049352	NM_001142966.3(GREB1L):c.1850-6T>C	GREB1L	Single nucleotide variant (intron variant)	GREB1L-related disorder	GLikely benign
Select item 2634686	NM_001142966.3(GREB1L):c.1901G>C (p.Ser634Thr)	GREB1L (S525T +2 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder +1 more	GUncertain significance
Select item 3061184	NM_001142966.3(GREB1L):c.1907_1910dup (p.Pro638fs)	GREB1L (P529fs +2 more)	Duplication (frameshift variant)	GREB1L-related disorder	GPathogenic
Select item 1896852	NM_001142966.3(GREB1L):c.2019G>T (p.Pro673=)	GREB1L	Single nucleotide variant (synonymous variant)	GREB1L-related disorder +1 more	GLikely benign
Select item 2634558	NM_001142966.3(GREB1L):c.2065G>A (p.Ala689Thr)	GREB1L (A580T +2 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 2630537	NM_001142966.3(GREB1L):c.2161_2162del (p.Leu721fs)	GREB1L (L612fs +2 more)	Microsatellite (frameshift variant)	GREB1L-related disorder	GLikely pathogenic
Select item 2035914	NM_001142966.3(GREB1L):c.2167C>T (p.Arg723Trp)	GREB1L (R723W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3046423	NM_001142966.3(GREB1L):c.2173C>A (p.Arg725=)	GREB1L	Single nucleotide variant (synonymous variant)	GREB1L-related disorder	GLikely benign
Select item 3048535	NM_001142966.3(GREB1L):c.2182+4A>G	GREB1L	Single nucleotide variant (intron variant)	GREB1L-related disorder	GLikely benign
Select item 2630511	NM_001142966.3(GREB1L):c.2232del (p.Ala745fs)	GREB1L (A636fs +2 more)	Deletion (frameshift variant)	GREB1L-related disorder	GLikely pathogenic
Select item 2049056	NM_001142966.3(GREB1L):c.2240A>G (p.Lys747Arg)	GREB1L (K790R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3036501	NM_001142966.3(GREB1L):c.2383T>C (p.Ser795Pro)	GREB1L (S686P +2 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GLikely benign
Select item 2723824	NM_001142966.3(GREB1L):c.2391C>T (p.Ser797=)	GREB1L	Single nucleotide variant (synonymous variant)	GREB1L-related disorder +1 more	GBenign/Likely benign
Select item 3036231	NM_001142966.3(GREB1L):c.2571C>T (p.Cys857=)	GREB1L	Single nucleotide variant (synonymous variant)	GREB1L-related disorder	GLikely benign
Select item 2080841	NM_001142966.3(GREB1L):c.2652C>T (p.Asp884=)	GREB1L	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3041016	NM_001142966.3(GREB1L):c.2690+9T>C	GREB1L	Single nucleotide variant (intron variant)	GREB1L-related disorder	GLikely benign
Select item 2636289	NM_001142966.3(GREB1L):c.2945T>C (p.Leu982Pro)	GREB1L (L1025P +2 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 2636022	NM_001142966.3(GREB1L):c.2992G>A (p.Glu998Lys)	GREB1L (E1041K +2 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 3050973	NM_001142966.3(GREB1L):c.3146+5A>T	GREB1L	Single nucleotide variant (intron variant)	GREB1L-related disorder	GLikely benign
Select item 3030691	NM_001142966.3(GREB1L):c.3219G>C (p.Val1073=)	GREB1L	Single nucleotide variant (synonymous variant)	GREB1L-related disorder	GLikely benign
Select item 2056058	NM_001142966.3(GREB1L):c.3286G>A (p.Gly1096Arg)	GREB1L (G987R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2635979	NM_001142966.3(GREB1L):c.3323A>G (p.Asp1108Gly)	GREB1L (D1108G +2 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder +1 more	GUncertain significance
Select item 2044679	NM_001142966.3(GREB1L):c.3328G>A (p.Asp1110Asn)	GREB1L (D1001N +2 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder +1 more	GBenign/Likely benign
Select item 2635141	NM_001142966.3(GREB1L):c.3353G>C (p.Arg1118Pro)	GREB1L (R1009P +2 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 2718660	NM_001142966.3(GREB1L):c.3578T>C (p.Met1193Thr)	GREB1L (M1193T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1556365	NM_001142966.3(GREB1L):c.3582G>A (p.Ala1194=)	GREB1L	Single nucleotide variant (synonymous variant)	GREB1L-related disorder +1 more	GLikely benign
Select item 2631915	NM_001142966.3(GREB1L):c.3665G>A (p.Arg1222Gln)	GREB1L (R1113Q +2 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 2634870	NM_001142966.3(GREB1L):c.3781G>A (p.Asp1261Asn)	GREB1L (D1152N +2 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 2636705	NM_001142966.3(GREB1L):c.3798C>G (p.Ser1266Arg)	GREB1L (S1157R +2 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 2633320	NM_001142966.3(GREB1L):c.3814del (p.Leu1271_Leu1272insTer)	GREB1L	Deletion (nonsense)	GREB1L-related disorder	GLikely pathogenic
Select item 3030696	NM_001142966.3(GREB1L):c.3840G>A (p.Glu1280=)	GREB1L	Single nucleotide variant (synonymous variant)	GREB1L-related disorder	GLikely benign
Select item 1578058	NM_001142966.3(GREB1L):c.3875G>A (p.Arg1292Gln)	GREB1L (R1292Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2049188	NM_001142966.3(GREB1L):c.3911C>T (p.Pro1304Leu)	GREB1L (P1195L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2631273	NM_001142966.3(GREB1L):c.3914C>T (p.Ala1305Val)	GREB1L (A1196V +2 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 2632044	NM_001142966.3(GREB1L):c.3931T>C (p.Phe1311Leu)	GREB1L (F1202L +2 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 2636152	NM_001142966.3(GREB1L):c.4188G>T (p.Met1396Ile)	GREB1L (M1287I +2 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 2894587	NM_001142966.3(GREB1L):c.4369-9C>G	GREB1L	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3049121	NM_001142966.3(GREB1L):c.4735+6G>A	GREB1L	Single nucleotide variant (intron variant)	GREB1L-related disorder	GLikely benign
Select item 2631251	NM_001142966.3(GREB1L):c.4871G>A (p.Trp1624Ter)	GREB1L (W1515* +2 more)	Single nucleotide variant (nonsense)	GREB1L-related disorder	GLikely pathogenic
Select item 2630327	NM_001142966.3(GREB1L):c.5017A>G (p.Ser1673Gly)	GREB1L (S1564G +2 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 2635727	NM_001142966.3(GREB1L):c.5030C>A (p.Thr1677Asn)	GREB1L (T1568N +2 more)	Single nucleotide variant (missense variant)	GREB1L-related disorder	GUncertain significance
Select item 2582963	NM_001142966.3(GREB1L):c.5280G>C (p.Glu1760Asp)	GREB1L (E1651D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3031352	NM_001142966.3(GREB1L):c.5472+7del	GREB1L	Deletion (intron variant)	GREB1L-related disorder	GLikely benign
Select item 2043915	NM_001142966.3(GREB1L):c.5766T>C (p.His1922=)	GREB1L	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign

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Items: 64