ClinVar for Gene (Select 54972) - ClinVar

Links from Gene

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326755	NM_178031.3(TMEM132A):c.1186A>C (p.Ile396Leu)	TMEM132A (I397L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326754	NM_178031.3(TMEM132A):c.1493G>T (p.Arg498Leu)	TMEM132A (R499L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326753	NM_178031.3(TMEM132A):c.2278G>A (p.Gly760Ser)	LOC130005787, TMEM132A (G760S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326752	NM_178031.3(TMEM132A):c.1550C>G (p.Pro517Arg)	TMEM132A (P517R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326751	NM_178031.3(TMEM132A):c.189G>T (p.Gln63His)	TMEM132A (Q63H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326750	NM_178031.3(TMEM132A):c.1469T>G (p.Val490Gly)	TMEM132A (V490G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326749	NM_178031.3(TMEM132A):c.2630G>A (p.Arg877His)	TMEM132A (R877H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326748	NM_178031.3(TMEM132A):c.1402C>T (p.Arg468Trp)	TMEM132A (R468W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326747	NM_178031.3(TMEM132A):c.1802T>C (p.Val601Ala)	TMEM132A (V601A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326746	NM_178031.3(TMEM132A):c.1894G>A (p.Asp632Asn)	TMEM132A (D632N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326745	NM_178031.3(TMEM132A):c.2438G>A (p.Arg813Gln)	TMEM132A (R813Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326744	NM_178031.3(TMEM132A):c.2479G>A (p.Glu827Lys)	TMEM132A (E827K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178688	NM_178031.3(TMEM132A):c.61C>G (p.Leu21Val)	LOC130005784, TMEM132A (L21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178685	NM_178031.3(TMEM132A):c.521C>G (p.Ala174Gly)	TMEM132A (A174G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178684	NM_178031.3(TMEM132A):c.406G>A (p.Glu136Lys)	TMEM132A (E136K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178683	NM_178031.3(TMEM132A):c.364G>C (p.Asp122His)	TMEM132A (D122H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178682	NM_178031.3(TMEM132A):c.3059G>A (p.Arg1020Gln)	TMEM132A (R1020Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178681	NM_178031.3(TMEM132A):c.2876G>A (p.Arg959Gln)	TMEM132A (R960Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178680	NM_178031.3(TMEM132A):c.2831C>T (p.Thr944Ile)	TMEM132A (T944I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178679	NM_178031.3(TMEM132A):c.2815G>C (p.Gly939Arg)	TMEM132A (G939R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178678	NM_178031.3(TMEM132A):c.2747C>T (p.Pro916Leu)	TMEM132A (P916L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3178677	NM_178031.3(TMEM132A):c.2501A>T (p.Glu834Val)	TMEM132A (E835V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178676	NM_178031.3(TMEM132A):c.2404G>A (p.Gly802Arg)	TMEM132A (G802R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178675	NM_178031.3(TMEM132A):c.2299C>T (p.Pro767Ser)	LOC130005787, TMEM132A (P767S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178674	NM_178031.3(TMEM132A):c.22C>G (p.Arg8Gly)	LOC130005784, TMEM132A (R8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178672	NM_178031.3(TMEM132A):c.1447C>T (p.Arg483Cys)	TMEM132A (R483C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178671	NM_178031.3(TMEM132A):c.1411C>T (p.Arg471Trp)	TMEM132A (R471W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178670	NM_178031.3(TMEM132A):c.1409C>T (p.Ala470Val)	TMEM132A (A471V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178669	NM_178031.3(TMEM132A):c.1324G>A (p.Gly442Ser)	TMEM132A (G442S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178668	NM_178031.3(TMEM132A):c.1093C>T (p.Arg365Cys)	TMEM132A (R366C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178667	NM_178031.3(TMEM132A):c.1021C>G (p.Leu341Val)	TMEM132A (L341V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2641818	NM_178031.3(TMEM132A):c.1677G>A (p.Leu559=)	TMEM132A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641817	NM_178031.3(TMEM132A):c.1410C>T (p.Ala470=)	TMEM132A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619710	NM_178031.3(TMEM132A):c.647C>G (p.Pro216Arg)	TMEM132A (P216R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615544	NM_178031.3(TMEM132A):c.2141T>A (p.Ile714Asn)	TMEM132A (I714N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601874	NM_178031.3(TMEM132A):c.718C>T (p.Arg240Cys)	TMEM132A (R240C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592091	NM_178031.3(TMEM132A):c.2255G>A (p.Arg752His)	LOC130005787, TMEM132A (R752H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588689	NM_178031.3(TMEM132A):c.329G>A (p.Arg110Gln)	TMEM132A (R110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569947	NM_178031.3(TMEM132A):c.2173G>A (p.Gly725Arg)	TMEM132A (G726R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560964	NM_178031.3(TMEM132A):c.2932G>A (p.Glu978Lys)	TMEM132A (E979K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559943	NM_178031.3(TMEM132A):c.1075G>T (p.Gly359Trp)	TMEM132A (G359W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530103	NM_178031.3(TMEM132A):c.1450G>T (p.Ala484Ser)	TMEM132A (A485S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528783	NM_178031.3(TMEM132A):c.1492C>T (p.Arg498Cys)	TMEM132A (R498C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508432	NM_178031.3(TMEM132A):c.2929C>T (p.Pro977Ser)	TMEM132A (P978S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495139	NM_178031.3(TMEM132A):c.1646G>A (p.Arg549His)	TMEM132A (R550H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492540	NM_178031.3(TMEM132A):c.1568A>G (p.Glu523Gly)	TMEM132A (E524G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487137	NM_178031.3(TMEM132A):c.793G>T (p.Val265Leu)	TMEM132A (V265L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476487	NM_178031.3(TMEM132A):c.950A>G (p.Lys317Arg)	TMEM132A (K317R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466734	NM_178031.3(TMEM132A):c.512C>T (p.Ala171Val)	TMEM132A (A171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463694	NM_178031.3(TMEM132A):c.2569T>C (p.Phe857Leu)	TMEM132A (F857L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2460858	NM_178031.3(TMEM132A):c.547G>A (p.Ala183Thr)	TMEM132A (A183T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454457	NM_178031.3(TMEM132A):c.605G>T (p.Arg202Leu)	TMEM132A (R202L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2410771	NM_178031.3(TMEM132A):c.1877C>T (p.Ala626Val)	TMEM132A (A627V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409154	NM_178031.3(TMEM132A):c.865C>T (p.Arg289Trp)	TMEM132A (R289W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404845	NM_178031.3(TMEM132A):c.1085C>G (p.Ala362Gly)	TMEM132A (A362G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397447	NM_178031.3(TMEM132A):c.802G>A (p.Gly268Ser)	TMEM132A (G268S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394590	NM_178031.3(TMEM132A):c.2332T>A (p.Ser778Thr)	LOC130005787, TMEM132A (S778T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385634	NM_178031.3(TMEM132A):c.2992C>T (p.Arg998Cys)	TMEM132A (R998C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376114	NM_178031.3(TMEM132A):c.370C>T (p.Arg124Trp)	TMEM132A (R124W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363352	NM_178031.3(TMEM132A):c.1658C>G (p.Pro553Arg)	TMEM132A (P553R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359621	NM_178031.3(TMEM132A):c.283C>T (p.Arg95Trp)	TMEM132A (R95W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358789	NM_178031.3(TMEM132A):c.2185A>G (p.Ser729Gly)	TMEM132A (S729G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357451	NM_178031.3(TMEM132A):c.2849C>A (p.Thr950Asn)	TMEM132A (T951N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350834	NM_178031.3(TMEM132A):c.1081G>A (p.Val361Ile)	TMEM132A (V362I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343988	NM_178031.3(TMEM132A):c.2855C>G (p.Ala952Gly)	TMEM132A (A952G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342713	NM_178031.3(TMEM132A):c.826C>A (p.Leu276Met)	TMEM132A (L276M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335407	NM_178031.3(TMEM132A):c.2668C>T (p.Pro890Ser)	TMEM132A (P890S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327106	NM_178031.3(TMEM132A):c.1606G>A (p.Ala536Thr)	TMEM132A (A537T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318712	NM_178031.3(TMEM132A):c.1792G>A (p.Gly598Ser)	TMEM132A (G599S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313675	NM_178031.3(TMEM132A):c.1664C>T (p.Ala555Val)	TMEM132A (A556V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311248	NM_178031.3(TMEM132A):c.1152A>C (p.Lys384Asn)	TMEM132A (K384N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308164	NM_178031.3(TMEM132A):c.1655C>T (p.Ala552Val)	TMEM132A (A553V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2286243	NM_178031.3(TMEM132A):c.349C>T (p.Arg117Trp)	TMEM132A (R117W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278703	NM_178031.3(TMEM132A):c.2171T>C (p.Leu724Pro)	TMEM132A (L724P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270009	NM_178031.3(TMEM132A):c.1649T>G (p.Phe550Cys)	TMEM132A (F551C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260164	NM_178031.3(TMEM132A):c.553G>A (p.Val185Met)	TMEM132A (V185M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244496	NM_178031.3(TMEM132A):c.1759G>A (p.Val587Met)	TMEM132A (V587M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243471	NM_178031.3(TMEM132A):c.1840C>G (p.Arg614Gly)	TMEM132A (R615G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229197	NM_178031.3(TMEM132A):c.2408G>A (p.Gly803Asp)	TMEM132A (G804D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2213867	NM_178031.3(TMEM132A):c.527G>A (p.Arg176His)	TMEM132A (R176H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213808	NM_178031.3(TMEM132A):c.1270C>T (p.Arg424Cys)	TMEM132A (R425C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212276	NM_178031.3(TMEM132A):c.2825G>C (p.Gly942Ala)	TMEM132A (G943A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206398	NM_178031.3(TMEM132A):c.989G>A (p.Arg330His)	TMEM132A (R330H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 789623	NM_178031.3(TMEM132A):c.366C>T (p.Asp122=)	TMEM132A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780976	NM_178031.3(TMEM132A):c.2235C>A (p.Pro745=)	LOC130005787, TMEM132A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687991	GRCh37/hg19 11q12.2(chr11:60499486-61529578)x3	CCDC86, CD5 +27 more	Copy number gain	not provided	GUncertain significance
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 97