23370[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 60234	GRCh38/hg38 19p13.2(chr19:7194917-7827432)x3	ARHGEF18, ARHGEF18-AS1 +75 more	Copy number gain	See cases	GUncertain significance
Select item 2649154	NM_001367823.1(ARHGEF18):c.34C>T (p.Arg12Trp)	ARHGEF18 (R12W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649155	NM_001367823.1(ARHGEF18):c.535G>C (p.Val179Leu)	ARHGEF18 (V179L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2649156	NM_001367823.1(ARHGEF18):c.583G>A (p.Val195Met)	ARHGEF18 (V195M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649157	NM_001367823.1(ARHGEF18):c.936C>T (p.Cys312=)	ARHGEF18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069468	NM_001367823.1(ARHGEF18):c.968-391G>A	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1491018	NM_001367823.1(ARHGEF18):c.968-391G>T	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1076913	NM_001367823.1(ARHGEF18):c.968-377del	ARHGEF18	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2106889	NM_001367823.1(ARHGEF18):c.968-360C>A	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 715866	NM_001367823.1(ARHGEF18):c.968-359T>A	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2131403	NM_001367823.1(ARHGEF18):c.968-353C>A	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1422905	NM_001367823.1(ARHGEF18):c.968-352A>G	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1112370	NM_001367823.1(ARHGEF18):c.968-350T>C	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1355728	NM_001367823.1(ARHGEF18):c.968-333C>T	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 738414	NM_001367823.1(ARHGEF18):c.968-326G>C	ARHGEF18	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1036612	NM_001367823.1(ARHGEF18):c.968-319A>G	ARHGEF18	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1026272	NM_001367823.1(ARHGEF18):c.968-309C>T	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1533484	NM_001367823.1(ARHGEF18):c.968-305G>C	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1531107	NM_001367823.1(ARHGEF18):c.968-305G>A	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1068967	NM_001367823.1(ARHGEF18):c.968-300_968-290del	ARHGEF18	Deletion (intron variant +1 more)	not provided	GPathogenic
Select item 3018532	NM_001367823.1(ARHGEF18):c.968-298A>T	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2478959	NM_001367823.1(ARHGEF18):c.968-295A>C	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1492252	NM_001367823.1(ARHGEF18):c.968-285C>T	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2621343	NM_001367823.1(ARHGEF18):c.968-281G>C	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 720414	NM_001367823.1(ARHGEF18):c.968-273C>G	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	ARHGEF18-related condition +1 more	GBenign/Likely benign
Select item 1643253	NM_001367823.1(ARHGEF18):c.968-272C>A	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1057785	NM_001367823.1(ARHGEF18):c.968-271G>T	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1525774	NM_001367823.1(ARHGEF18):c.968-267C>A	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 833682	NM_001367823.1(ARHGEF18):c.968-267C>T	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2799646	NM_001367823.1(ARHGEF18):c.968-266G>A	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1016671	NM_001367823.1(ARHGEF18):c.968-265G>C	ARHGEF18	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2022625	NM_001367823.1(ARHGEF18):c.968-263T>C	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1714014	NM_001367823.1(ARHGEF18):c.968-256G>T	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1957000	NM_001367823.1(ARHGEF18):c.968-251G>A	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa 78 +1 more	GConflicting classifications of pathogenicity
Select item 1052489	NM_001367823.1(ARHGEF18):c.968-250G>A	ARHGEF18	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 965174	NM_001367823.1(ARHGEF18):c.968-250G>C	ARHGEF18	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1169444	NM_001367823.1(ARHGEF18):c.968-248C>T	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	ARHGEF18-related condition +1 more	GBenign
Select item 1434595	NM_001367823.1(ARHGEF18):c.968-243A>G	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1716288	NM_001367823.1(ARHGEF18):c.968-235A>C	ARHGEF18 (N3H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1106114	NM_001367823.1(ARHGEF18):c.968-233T>C	ARHGEF18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1901329	NM_001367823.1(ARHGEF18):c.968-231C>T	ARHGEF18 (A4V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 719784	NM_001367823.1(ARHGEF18):c.968-230G>A	ARHGEF18	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1944458	NM_001367823.1(ARHGEF18):c.968-225C>T	ARHGEF18 (S6F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1671770	NM_001367823.1(ARHGEF18):c.968-215G>A	ARHGEF18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1955475	NM_001367823.1(ARHGEF18):c.968-197C>T	ARHGEF18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2320767	NM_001367823.1(ARHGEF18):c.968-195C>G	ARHGEF18 (P16R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 714877	NM_001367823.1(ARHGEF18):c.968-194C>T	ARHGEF18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1933546	NM_001367823.1(ARHGEF18):c.968-193G>A	ARHGEF18 (G17S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2784906	NM_001367823.1(ARHGEF18):c.968-185C>T	ARHGEF18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1563123	NM_001367823.1(ARHGEF18):c.968-185C>G	ARHGEF18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2070255	NM_001367823.1(ARHGEF18):c.968-182G>T	ARHGEF18 (E20D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1917466	NM_001367823.1(ARHGEF18):c.968-170C>T	ARHGEF18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1966542	NM_001367823.1(ARHGEF18):c.968-161C>G	ARHGEF18 (F27L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 971859	NM_001367823.1(ARHGEF18):c.968-152A>C	ARHGEF18 (K30N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2278807	NM_001367823.1(ARHGEF18):c.968-143G>C	ARHGEF18 (E33D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1943839	NM_001367823.1(ARHGEF18):c.968-140C>T	ARHGEF18	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3129172	NM_001367823.1(ARHGEF18):c.968-139G>A	ARHGEF18 (V35I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1023334	NM_001367823.1(ARHGEF18):c.968-134_968-132del	ARHGEF18 (F36del)	Microsatellite (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 1168774	NM_001367823.1(ARHGEF18):c.968-131G>A	ARHGEF18	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 1052315	NM_001367823.1(ARHGEF18):c.968-127A>G	ARHGEF18 (N39D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1130447	NM_001367823.1(ARHGEF18):c.968-125C>T	ARHGEF18	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1407914	NM_001367823.1(ARHGEF18):c.968-124G>C	ARHGEF18 (E40Q)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 777392	NM_001367823.1(ARHGEF18):c.968-119G>A	ARHGEF18	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1513844	NM_001367823.1(ARHGEF18):c.968-108A>C	ARHGEF18 (K45T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1097905	NM_001367823.1(ARHGEF18):c.968-104C>A	ARHGEF18	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1714652	NM_001367823.1(ARHGEF18):c.968-99C>T	ARHGEF18 (S48F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1082517	NM_001367823.1(ARHGEF18):c.968-98T>G	ARHGEF18	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1497812	NM_001367823.1(ARHGEF18):c.968-91C>T	ARHGEF18 (R51W)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2742351	NM_001367823.1(ARHGEF18):c.968-89G>T	ARHGEF18	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2483748	NM_001367823.1(ARHGEF18):c.968-88C>A	ARHGEF18 (P52T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2352875	NM_001367823.1(ARHGEF18):c.968-84A>C	ARHGEF18 (Q53P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 953255	NM_001367823.1(ARHGEF18):c.968-84_968-83inv	ARHGEF18 (Q53P)	Inversion (missense variant +2 more)	not provided	GUncertain significance
Select item 2352876	NM_001367823.1(ARHGEF18):c.968-83G>T	ARHGEF18 (Q53H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1156460	NM_001367823.1(ARHGEF18):c.968-80G>A	ARHGEF18	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1417363	NM_001367823.1(ARHGEF18):c.968-76C>T	ARHGEF18 (R56W)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 955223	NM_001367823.1(ARHGEF18):c.968-75G>C	ARHGEF18 (R56P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 939165	NM_001367823.1(ARHGEF18):c.968-75G>A	ARHGEF18 (R56Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2758345	NM_001367823.1(ARHGEF18):c.968-74G>A	ARHGEF18	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1907504	NM_001367823.1(ARHGEF18):c.968-72G>A	ARHGEF18 (G57D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1407814	NM_001367823.1(ARHGEF18):c.968-72G>T	ARHGEF18 (G57V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1386295	NM_001367823.1(ARHGEF18):c.968-68C>G	ARHGEF18 (F58L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 771923	NM_001367823.1(ARHGEF18):c.968-67C>T	ARHGEF18 (R59C)	Single nucleotide variant (missense variant +2 more)	ARHGEF18-related condition +1 more	GBenign/Likely benign
Select item 1489520	NM_001367823.1(ARHGEF18):c.968-64G>A	ARHGEF18 (A60T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2884824	NM_001367823.1(ARHGEF18):c.968-63C>T	ARHGEF18 (A60V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1639166	NM_001367823.1(ARHGEF18):c.968-62C>T	ARHGEF18	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1352866	NM_001367823.1(ARHGEF18):c.968-61G>A	ARHGEF18 (G61R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1512913	NM_001367823.1(ARHGEF18):c.968-52C>T	ARHGEF18 (R64C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1121539	NM_001367823.1(ARHGEF18):c.968-50C>T	ARHGEF18	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1525099	NM_001367823.1(ARHGEF18):c.968-45C>T	ARHGEF18 (P66L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1608387	NM_001367823.1(ARHGEF18):c.968-44G>A	ARHGEF18	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1541085	NM_001367823.1(ARHGEF18):c.968-41C>G	ARHGEF18	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1040657	NM_001367823.1(ARHGEF18):c.968-40C>T	ARHGEF18 (H68Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1121813	NM_001367823.1(ARHGEF18):c.968-38C>T	ARHGEF18	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2837995	NM_001367823.1(ARHGEF18):c.968-35T>C	ARHGEF18	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1356336	NM_001367823.1(ARHGEF18):c.968-24A>G	ARHGEF18 (N73S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1355090	NM_001367823.1(ARHGEF18):c.968-19G>T	ARHGEF18 (V75F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1134381	NM_001367823.1(ARHGEF18):c.968-11C>T	ARHGEF18	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1544082	NM_001367823.1(ARHGEF18):c.968-8T>C	ARHGEF18	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2867399	NM_001367823.1(ARHGEF18):c.972G>T (p.Ser324=)	ARHGEF18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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