ClinVar for Gene (Select 4281) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 621

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377330	NM_000381.4(MID1):c.1142-2A>G	MID1	Single nucleotide variant (splice acceptor variant)	X-linked Opitz G/BBB syndrome	GLikely pathogenic
Select item 3375841	NM_000381.4(MID1):c.734T>C (p.Ile245Thr)	MID1 (I207T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375690	NM_000381.4(MID1):c.1736G>C (p.Arg579Pro)	LOC126863207, MID1 (R541P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372747	NM_000381.4(MID1):c.214G>A (p.Gly72Arg)	MID1 (G72R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372210	NM_000381.4(MID1):c.631G>C (p.Ala211Pro)	MID1 (A211P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367603	NM_000381.4(MID1):c.874C>T (p.Leu292Phe)	MID1 (L254F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364723	NM_000381.4(MID1):c.689T>G (p.Leu230Arg)	MID1 (L192R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362821	NM_000381.4(MID1):c.601G>A (p.Val201Ile)	MID1 (V201I)	Single nucleotide variant (missense variant +1 more)	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations	GUncertain significance
Select item 3353345	NM_000381.4(MID1):c.757-10784C>T	MID1	Single nucleotide variant (intron variant)	MID1-related disorder	GUncertain significance
Select item 3345401	NM_000381.4(MID1):c.757-5727G>A	MID1 (D300N)	Single nucleotide variant (missense variant +1 more)	MID1-related disorder	GUncertain significance
Select item 3343614	NM_000381.4(MID1):c.1286-1G>C	MID1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3342470	NM_000381.4(MID1):c.864+1G>A	MID1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3339122	NM_000381.4(MID1):c.864+4T>G	MID1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3338810	NM_000381.4(MID1):c.1656G>A (p.Trp552Ter)	LOC126863207, MID1 (W514* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3337287	NM_000381.4(MID1):c.99C>A (p.Cys33Ter)	MID1 (C33*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3337286	NM_000381.4(MID1):c.151A>G (p.Ile51Val)	MID1 (I51V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3294810	NM_000381.4(MID1):c.1037C>T (p.Ser346Phe)	MID1 (S308F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3294808	NM_000381.4(MID1):c.1891G>A (p.Val631Ile)	LOC126863207, MID1 (V593I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3256591	NM_000381.4(MID1):c.1814G>T (p.Gly605Val)	LOC126863207, MID1 (G567V +1 more)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome	GLikely pathogenic
Select item 3246474	NC_000023.10:g.(?_10153073)_(10535587_?)dup	CLCN4, MID1	Duplication	not provided	GLikely benign
Select item 3245811	NC_000023.10:g.(?_10417408)_(10427867_?)del	MID1	Deletion	not provided	GPathogenic
Select item 3245800	NC_000023.10:g.(?_10417408)_(10463751_?)del	MID1	Deletion	not provided	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3235986	NM_000381.4(MID1):c.671_674del (p.Glu224fs)	MID1 (E186fs +1 more)	Microsatellite (frameshift variant)	X-linked Opitz G/BBB syndrome	GPathogenic
Select item 3235932	NM_000381.4(MID1):c.1913_1936inv (p.Cys638_Lys646delinsLeuPheHisThrValLysValGlyGln)	LOC126863207, MID1	Inversion (missense variant)	X-linked Opitz G/BBB syndrome	GUncertain significance
Select item 3220884	NM_000381.4(MID1):c.1174_1178del (p.Cys392fs)	MID1 (C354fs +2 more)	Deletion (frameshift variant)	X-linked Opitz G/BBB syndrome	GLikely pathogenic
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062505	GRCh37/hg19 Xp22.31-22.2(chrX:6759774-10831816)	WWC3, ANOS1 +13 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3057556	NM_000381.4(MID1):c.875T>C (p.Leu292Pro)	MID1 (L254P +2 more)	Single nucleotide variant (missense variant)	MID1-related disorder	GUncertain significance
Select item 3037029	NM_000381.4(MID1):c.757-10802C>T	MID1	Single nucleotide variant (intron variant)	MID1-related disorder	GLikely benign
Select item 3026961	NM_000381.4(MID1):c.401G>A (p.Cys134Tyr)	MID1 (C134Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3022879	NM_000381.4(MID1):c.679C>T (p.Leu227Phe)	MID1 (L189F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3020841	NM_000381.4(MID1):c.1809C>T (p.Arg603=)	LOC126863207, MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018962	NM_000381.4(MID1):c.1083C>A (p.Thr361=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017903	NM_000381.4(MID1):c.1067A>G (p.Asn356Ser)	MID1 (N356S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3016672	NM_000381.4(MID1):c.1539C>T (p.Ser513=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3015544	NM_000381.4(MID1):c.1983C>T (p.Asp661=)	LOC126863207, MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014526	NM_000381.4(MID1):c.567C>G (p.Thr189=)	MID1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012813	NM_000381.4(MID1):c.759C>T (p.Val253=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3012241	NM_000381.4(MID1):c.1447+20C>T	MID1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012033	NM_000381.4(MID1):c.1308C>T (p.Ser436=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010960	NM_000381.4(MID1):c.1013+12G>A	MID1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010492	NM_000381.4(MID1):c.134A>G (p.Asn45Ser)	MID1 (N45S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3008732	NM_000381.4(MID1):c.1551C>T (p.His517=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007940	NM_000381.4(MID1):c.1013+13G>T	MID1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007818	NM_000381.4(MID1):c.1014-20T>C	MID1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007316	NM_000381.4(MID1):c.1680A>G (p.Lys560=)	LOC126863207, MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007004	NM_000381.4(MID1):c.1014-9G>C	MID1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006793	NM_000381.4(MID1):c.60T>A (p.Pro20=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005239	NM_000381.4(MID1):c.1239C>T (p.Ser413=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004657	NM_000381.4(MID1):c.1014-13G>T	MID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3003717	NM_000381.4(MID1):c.1346C>T (p.Thr449Met)	MID1 (T411M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3002039	NM_000381.4(MID1):c.1200T>C (p.Thr400=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3001088	NM_000381.4(MID1):c.624G>A (p.Gln208=)	MID1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3000941	NM_000381.4(MID1):c.1286-20A>G	MID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3000895	NM_000381.4(MID1):c.162C>T (p.Phe54=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000413	NM_000381.4(MID1):c.1446C>T (p.Asn482=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2999818	NM_000381.4(MID1):c.865-14_865-12del	MID1	Deletion (intron variant)	not provided	GLikely benign
Select item 2999112	NM_000381.4(MID1):c.660+13C>T	MID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2998355	NM_000381.4(MID1):c.759C>A (p.Val253=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994577	NM_000381.4(MID1):c.1836C>T (p.Asn612=)	LOC126863207, MID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2993171	NM_000381.4(MID1):c.1656-5C>T	LOC126863207, MID1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986229	NM_000381.4(MID1):c.1365C>T (p.Ser455=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2986133	NM_000381.4(MID1):c.213C>T (p.Asp71=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985776	NM_000381.4(MID1):c.864+5G>A	MID1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2985095	NM_000381.4(MID1):c.438G>A (p.Leu146=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984020	NM_000381.4(MID1):c.660+8C>T	MID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2983667	NM_000381.4(MID1):c.1452A>G (p.Gln484=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983237	NM_000381.4(MID1):c.1902G>A (p.Ala634=)	LOC126863207, MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982659	NM_000381.4(MID1):c.354C>G (p.Leu118=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982226	NM_000381.4(MID1):c.774A>G (p.Gln258=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981205	NM_000381.4(MID1):c.1278C>T (p.Asn426=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2979054	NM_000381.4(MID1):c.435C>T (p.Cys145=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2977894	NM_000381.4(MID1):c.1285+13T>C	MID1 (M395T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2975802	NM_000381.4(MID1):c.660+14G>A	MID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2973970	NM_000381.4(MID1):c.156C>T (p.Thr52=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972852	NM_000381.4(MID1):c.1845C>T (p.Ile615=)	LOC126863207, MID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2969093	NM_000381.4(MID1):c.1647A>T (p.Gly549=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966824	NM_000381.4(MID1):c.135C>T (p.Asn45=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965310	NM_000381.4(MID1):c.784T>C (p.Leu262=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2964813	NM_000381.4(MID1):c.1448-20T>G	MID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2964171	NM_000381.4(MID1):c.1286-13_1286-10dup	MID1	Duplication (intron variant)	not provided	GBenign
Select item 2963371	NM_000381.4(MID1):c.1142-13T>A	MID1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962492	NM_000381.4(MID1):c.430G>A (p.Glu144Lys)	MID1 (E144K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2962169	NM_000381.4(MID1):c.277G>A (p.Gly93Arg)	MID1 (G93R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2961671	NM_000381.4(MID1):c.1047A>G (p.Leu349=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959965	NM_000381.4(MID1):c.660+9G>A	MID1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959504	NM_000381.4(MID1):c.285C>T (p.Asn95=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2959486	NM_000381.4(MID1):c.1435T>C (p.Leu479=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958897	NM_000381.4(MID1):c.1746T>C (p.Asn582=)	LOC126863207, MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956484	NM_000381.4(MID1):c.757-18A>T	MID1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920322	NM_000381.4(MID1):c.519G>A (p.Leu173=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915763	NM_000381.4(MID1):c.1008C>T (p.Thr336=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908903	NM_000381.4(MID1):c.1884C>T (p.Thr628=)	LOC126863207, MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907829	NM_000381.4(MID1):c.922C>T (p.Arg308Trp)	MID1 (R359W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903242	NM_000381.4(MID1):c.63T>G (p.Leu21=)	MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896990	NM_000381.4(MID1):c.305G>A (p.Arg102Gln)	MID1 (R102Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2896325	NM_000381.4(MID1):c.1773G>A (p.Lys591=)	LOC126863207, MID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895762	NM_000381.4(MID1):c.799G>A (p.Asp267Asn)	MID1 (D229N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 7