55107[geneid] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	ACTE1P, ANO1 +184 more	Copy number loss	See cases	GLikely pathogenic
Select item 2252976	NM_018043.7(ANO1):c.17A>G (p.Lys6Arg)	ANO1 (K47R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467033	NM_018043.7(ANO1):c.23C>G (p.Ser8Trp)	ANO1 (S49W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369751	NM_018043.7(ANO1):c.43C>T (p.Arg15Cys)	ANO1 (R15C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507583	NM_018043.7(ANO1):c.91C>G (p.Leu31Val)	ANO1 (L31V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268994	NM_018043.7(ANO1):c.172G>A (p.Gly58Ser)	ANO1 (G58S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315496	NM_018043.7(ANO1):c.229C>T (p.Arg77Trp)	ANO1 (R77W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774696	NM_018043.7(ANO1):c.243G>A (p.Arg81=)	ANO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2345197	NM_018043.7(ANO1):c.317C>T (p.Ala106Val)	ANO1 (A106V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127072	NM_018043.7(ANO1):c.320C>T (p.Ser107Leu)	ANO1 (S107L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238517	NM_018043.7(ANO1):c.380G>T (p.Arg127Leu)	ANO1 (R127L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516838	NM_018043.7(ANO1):c.431G>C (p.Arg144Pro)	ANO1 (R144P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127073	NM_018043.7(ANO1):c.435C>A (p.Asp145Glu)	ANO1 (D186E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352588	NM_018043.7(ANO1):c.436G>A (p.Glu146Lys)	ANO1 (E146K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486585	NM_018043.7(ANO1):c.448A>G (p.Ile150Val)	ANO1 (I191V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2487823	NM_018043.7(ANO1):c.508G>A (p.Glu170Lys)	ANO1 (E170K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127074	NM_018043.7(ANO1):c.550A>G (p.Ile184Val)	ANO1 (I184V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127075	NM_018043.7(ANO1):c.770C>T (p.Thr257Met)	ANO1 (T224M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642050	NM_018043.7(ANO1):c.833C>T (p.Ala278Val)	ANO1 (A245V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2289570	NM_018043.7(ANO1):c.868G>A (p.Gly290Ser)	ANO1 (G312S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 493095	NM_018043.7(ANO1):c.897+3_897+6del	ANO1	Microsatellite (splice donor variant)	not provided	GUncertain significance
Select item 740787	NM_018043.7(ANO1):c.906C>T (p.Tyr302=)	ANO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3127076	NM_018043.7(ANO1):c.910G>C (p.Glu304Gln)	ANO1 (E326Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206399	NM_018043.7(ANO1):c.959T>C (p.Val320Ala)	ANO1 (V342A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617938	NM_018043.7(ANO1):c.971T>C (p.Phe324Ser)	ANO1 (F324S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313868	NM_018043.7(ANO1):c.1023G>A (p.Met341Ile)	ANO1 (M404I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520394	NM_018043.7(ANO1):c.1196G>A (p.Arg399His)	ANO1 (R366H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127061	NM_018043.7(ANO1):c.1198G>A (p.Ala400Thr)	ANO1 (A367T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509951	NM_018043.7(ANO1):c.1222G>A (p.Ala408Thr)	ANO1 (A408T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611264	NM_018043.7(ANO1):c.1229T>C (p.Val410Ala)	ANO1 (V432A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312266	NM_018043.7(ANO1):c.1240G>A (p.Val414Ile)	ANO1 (V436I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526099	NM_018043.7(ANO1):c.1273G>T (p.Glu425Ter)	ANO1 (E392* +3 more)	Single nucleotide variant (nonsense +1 more)	ANO1-related fatal neonatal disease due to impaired chloride currents	GLikely pathogenic
Select item 716671	NM_018043.7(ANO1):c.1276C>A (p.His426Asn)	ANO1 (H426N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2477742	NM_018043.7(ANO1):c.1310G>A (p.Arg437His)	ANO1 (R404H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642051	NM_018043.7(ANO1):c.1426-6C>G	ANO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3127062	NM_018043.7(ANO1):c.1429C>T (p.Arg477Cys)	ANO1 (R473C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127063	NM_018043.7(ANO1):c.1436A>G (p.His479Arg)	ANO1 (H475R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782295	NM_018043.7(ANO1):c.1504-8T>C	ANO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2321057	NM_018043.7(ANO1):c.1505C>A (p.Thr502Asn)	ANO1 (T443N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400077	NM_018043.7(ANO1):c.1585G>A (p.Val529Met)	ANO1 (V592M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127064	NM_018043.7(ANO1):c.1606G>A (p.Gly536Ser)	ANO1 (G599S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782296	NM_018043.7(ANO1):c.1647C>T (p.Ala549=)	ANO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 790409	NM_018043.7(ANO1):c.1666G>A (p.Val556Met)	ANO1 (V556M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3127065	NM_018043.7(ANO1):c.1703C>T (p.Ala568Val)	ANO1 (A509V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514952	NM_018043.7(ANO1):c.1751G>A (p.Gly584Asp)	ANO1 (G554D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300538	NM_018043.7(ANO1):c.1793C>T (p.Thr598Met)	ANO1 (T539M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776639	NM_018043.7(ANO1):c.1851T>C (p.Asn617=)	ANO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2555111	NM_018043.7(ANO1):c.1908G>A (p.Pro636=)	ANO1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2691755	NM_018043.7(ANO1):c.1972A>G (p.Met658Val)	ANO1 (M658V +4 more)	Single nucleotide variant (missense variant +1 more)	Moyamoya disease 7	GPathogenic
Select item 3127066	NM_018043.7(ANO1):c.2080A>C (p.Lys694Gln)	ANO1 (K664Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273533	NM_018043.7(ANO1):c.2101C>G (p.Pro701Ala)	ANO1 (P764A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773248	NM_018043.7(ANO1):c.2109C>T (p.His703=)	ANO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2225705	NM_018043.7(ANO1):c.2135G>A (p.Arg712Gln)	ANO1 (R775Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2691757	NM_018043.7(ANO1):c.2219C>T (p.Thr740Ile)	ANO1 (T740I +4 more)	Single nucleotide variant (missense variant +1 more)	Moyamoya disease 7	GPathogenic
Select item 2253702	NM_018043.7(ANO1):c.2243T>C (p.Leu748Pro)	ANO1 (L718P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369348	NM_018043.7(ANO1):c.2326G>A (p.Val776Ile)	ANO1 (V776I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221852	NM_018043.7(ANO1):c.2347A>G (p.Ile783Val)	ANO1 (I753V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593416	NM_018043.7(ANO1):c.2377A>G (p.Ile793Val)	ANO1 (I734V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2301671	NM_018043.7(ANO1):c.2536G>A (p.Gly846Ser)	ANO1 (G846S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127067	NM_018043.7(ANO1):c.2549A>G (p.Asn850Ser)	ANO1 (N913S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127068	NM_018043.7(ANO1):c.2552A>T (p.Asp851Val)	ANO1 (D851V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127069	NM_018043.7(ANO1):c.2606A>C (p.Glu869Ala)	ANO1 (E932A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301672	NM_018043.7(ANO1):c.2618C>T (p.Ser873Leu)	ANO1 (S843L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127070	NM_018043.7(ANO1):c.2750A>G (p.Lys917Arg)	ANO1 (K913R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127071	NM_018043.7(ANO1):c.2753A>T (p.Asp918Val)	ANO1 (D888V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375804	NM_018043.7(ANO1):c.2796G>C (p.Glu932Asp)	ANO1 (E928D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224644	NM_018043.7(ANO1):c.2839A>G (p.Thr947Ala)	ANO1 (T1010A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 729688	NM_018043.7(ANO1):c.2853G>A (p.Lys951=)	ANO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2463664	NM_018043.7(ANO1):c.2869G>A (p.Glu957Lys)	ANO1 (E898K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782956	NM_018043.7(ANO1):c.2916C>T (p.Leu972=)	ANO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1809037	GRCh37/hg19 11q13.3(chr11:69559588-70347818)x3	ANO1, CTTN +5 more	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340992	GRCh37/hg19 11q13.3-13.4(chr11:69214835-70821137)x1	ANO1, CCND1 +8 more	Copy number loss	not provided	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 685849	GRCh37/hg19 11q13.3-13.4(chr11:69849324-70478959)x3	ANO1, CTTN +3 more	Copy number gain	not provided	GUncertain significance
Select item 442080	GRCh37/hg19 11q13.2-13.4(chr11:67799160-70701268)x1	ANO1, C11orf24 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 80