LRRC45[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 60175	GRCh38/hg38 17q25.3(chr17:81885863-82358856)x3	LOC130062008, LOC130062009 +95 more	Copy number gain	See cases	GUncertain significance
Select item 2499662	GRCh38/hg38 17q25.3(chr17:82004063-83087346)	ASPSCR1, B3GNTL1 +130 more	Copy number loss	Anomalous pulmonary venous return	GUncertain significance
Select item 3350721	NM_144999.4(LRRC45):c.14G>A (p.Arg5Gln)	LRRC45 (R5Q)	Single nucleotide variant (missense variant)	LRRC45-related disorder	GLikely benign
Select item 3120745	NM_144999.4(LRRC45):c.95G>A (p.Arg32Lys)	LRRC45 (R32K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3346727	NM_144999.4(LRRC45):c.123C>G (p.Ser41Arg)	LRRC45 (S41R)	Single nucleotide variant (missense variant)	LRRC45-related disorder	GUncertain significance
Select item 2220803	NM_144999.4(LRRC45):c.130G>A (p.Val44Met)	LRRC45 (V44M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550337	NM_144999.4(LRRC45):c.143G>A (p.Arg48Lys)	LRRC45 (R48K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344874	NM_144999.4(LRRC45):c.182C>T (p.Thr61Met)	LRRC45 (T61M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3355975	NM_144999.4(LRRC45):c.214G>A (p.Glu72Lys)	LRRC45 (E72K)	Single nucleotide variant (missense variant)	LRRC45-related disorder	GUncertain significance
Select item 3120734	NM_144999.4(LRRC45):c.241G>T (p.Gly81Cys)	LRRC45 (G81C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291668	NM_144999.4(LRRC45):c.248G>A (p.Cys83Tyr)	LRRC45 (C83Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382821	NM_144999.4(LRRC45):c.265C>T (p.Arg89Cys)	LRRC45 (R89C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3344688	NM_144999.4(LRRC45):c.282+1G>T	LRRC45	Single nucleotide variant (splice donor variant)	LRRC45-related disorder	GUncertain significance
Select item 3352154	NM_144999.4(LRRC45):c.283-9C>T	LRRC45	Single nucleotide variant (intron variant)	LRRC45-related disorder	GLikely benign
Select item 3346880	NM_144999.4(LRRC45):c.283-3T>G	LRRC45	Single nucleotide variant (intron variant)	LRRC45-related disorder	GUncertain significance
Select item 2313990	NM_144999.4(LRRC45):c.296G>A (p.Arg99Gln)	LRRC45 (R99Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3351224	NM_144999.4(LRRC45):c.336G>C (p.Gln112His)	LRRC45 (Q112H)	Single nucleotide variant (missense variant)	LRRC45-related disorder	GLikely benign
Select item 3120735	NM_144999.4(LRRC45):c.400G>A (p.Ala134Thr)	LRRC45 (A134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281616	NM_144999.4(LRRC45):c.412G>A (p.Gly138Arg)	LRRC45 (G138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3355311	NM_144999.4(LRRC45):c.429C>T (p.Asn143=)	LRRC45	Single nucleotide variant (synonymous variant)	LRRC45-related disorder	GLikely benign
Select item 3120736	NM_144999.4(LRRC45):c.433G>C (p.Ala145Pro)	LRRC45 (A145P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462928	NM_144999.4(LRRC45):c.442C>T (p.Arg148Trp)	LRRC45 (R148W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592035	NM_144999.4(LRRC45):c.481G>A (p.Ala161Thr)	LRRC45 (A161T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120737	NM_144999.4(LRRC45):c.482C>T (p.Ala161Val)	LRRC45 (A161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3357484	NM_144999.4(LRRC45):c.485A>G (p.Glu162Gly)	LRRC45 (E162G)	Single nucleotide variant (missense variant)	LRRC45-related disorder	GUncertain significance
Select item 3357477	NM_144999.4(LRRC45):c.496C>T (p.Leu166=)	LRRC45	Single nucleotide variant (synonymous variant)	LRRC45-related disorder	GLikely benign
Select item 2305266	NM_144999.4(LRRC45):c.575T>C (p.Leu192Pro)	LRRC45 (L192P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361134	NM_144999.4(LRRC45):c.583T>C (p.Cys195Arg)	LRRC45 (C195R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120738	NM_144999.4(LRRC45):c.590C>T (p.Pro197Leu)	LRRC45 (P197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3351877	NM_144999.4(LRRC45):c.642A>T (p.Gly214=)	LRRC45	Single nucleotide variant (synonymous variant)	LRRC45-related disorder	GLikely benign
Select item 2392200	NM_144999.4(LRRC45):c.643G>A (p.Asp215Asn)	LRRC45 (D215N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3350458	NM_144999.4(LRRC45):c.657C>T (p.Ala219=)	LRRC45	Single nucleotide variant (synonymous variant)	LRRC45-related disorder	GLikely benign
Select item 3352701	NM_144999.4(LRRC45):c.658G>A (p.Val220Met)	LRRC45 (V220M)	Single nucleotide variant (missense variant)	LRRC45-related disorder	GLikely benign
Select item 3350392	NM_144999.4(LRRC45):c.661+5G>A	LRRC45	Single nucleotide variant (intron variant)	LRRC45-related disorder	GLikely benign
Select item 3344696	NM_144999.4(LRRC45):c.661+8G>A	LRRC45	Single nucleotide variant (intron variant)	LRRC45-related disorder	GUncertain significance
Select item 3350958	NM_144999.4(LRRC45):c.670A>G (p.Met224Val)	LRRC45 (M224V)	Single nucleotide variant (missense variant)	LRRC45-related disorder	GUncertain significance
Select item 3120739	NM_144999.4(LRRC45):c.688C>T (p.Arg230Trp)	LRRC45 (R230W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3345600	NM_144999.4(LRRC45):c.698C>A (p.Thr233Asn)	LRRC45 (T233N)	Single nucleotide variant (missense variant)	LRRC45-related disorder	GUncertain significance
Select item 3291662	NM_144999.4(LRRC45):c.719G>A (p.Arg240His)	LRRC45 (R240H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395496	NM_144999.4(LRRC45):c.727G>A (p.Val243Ile)	LRRC45 (V243I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120740	NM_144999.4(LRRC45):c.730C>T (p.Leu244Phe)	LRRC45 (L244F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310691	NM_144999.4(LRRC45):c.751C>T (p.Leu251Phe)	LRRC45 (L251F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257857	NM_144999.4(LRRC45):c.755G>A (p.Arg252Gln)	LRRC45 (R252Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3120741	NM_144999.4(LRRC45):c.757G>C (p.Glu253Gln)	LRRC45 (E253Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120742	NM_144999.4(LRRC45):c.772C>G (p.Gln258Glu)	LRRC45 (Q258E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3351356	NM_144999.4(LRRC45):c.774+9G>A	LRRC45	Single nucleotide variant (intron variant)	LRRC45-related disorder	GLikely benign
Select item 3352541	NM_144999.4(LRRC45):c.775-6C>T	LRRC45	Single nucleotide variant (intron variant)	LRRC45-related disorder	GLikely benign
Select item 3351495	NM_144999.4(LRRC45):c.775T>C (p.Phe259Leu)	LRRC45 (F259L)	Single nucleotide variant (missense variant)	LRRC45-related disorder	GUncertain significance
Select item 2288412	NM_144999.4(LRRC45):c.781G>A (p.Asp261Asn)	LRRC45 (D261N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3350717	NM_144999.4(LRRC45):c.797T>C (p.Ile266Thr)	LRRC45 (I266T)	Single nucleotide variant (missense variant)	LRRC45-related disorder	GLikely benign
Select item 3120743	NM_144999.4(LRRC45):c.807G>T (p.Gln269His)	LRRC45 (Q269H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120744	NM_144999.4(LRRC45):c.809G>A (p.Arg270Gln)	LRRC45 (R270Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291666	NM_144999.4(LRRC45):c.817A>G (p.Met273Val)	LRRC45 (M273V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3351326	NM_144999.4(LRRC45):c.834-3C>T	LRRC45	Single nucleotide variant (intron variant)	LRRC45-related disorder	GLikely benign
Select item 3353670	NM_144999.4(LRRC45):c.847C>T (p.Arg283Cys)	LRRC45 (R283C)	Single nucleotide variant (missense variant)	LRRC45-related disorder	GUncertain significance
Select item 2516074	NM_144999.4(LRRC45):c.847C>G (p.Arg283Gly)	LRRC45 (R283G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3350296	NM_144999.4(LRRC45):c.897C>T (p.Asn299=)	LRRC45	Single nucleotide variant (synonymous variant)	LRRC45-related disorder	GLikely benign
Select item 3358569	NM_144999.4(LRRC45):c.931G>A (p.Ala311Thr)	LRRC45 (A311T)	Single nucleotide variant (missense variant)	LRRC45-related disorder	GUncertain significance
Select item 3356094	NM_144999.4(LRRC45):c.938C>G (p.Ala313Gly)	LRRC45 (A313G)	Single nucleotide variant (missense variant)	LRRC45-related disorder	GUncertain significance
Select item 2648477	NM_144999.4(LRRC45):c.987G>A (p.Ala329=)	LRRC45	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3351358	NM_144999.4(LRRC45):c.1036C>T (p.Leu346=)	LRRC45	Single nucleotide variant (synonymous variant)	LRRC45-related disorder	GLikely benign
Select item 3291663	NM_144999.4(LRRC45):c.1072C>G (p.Leu358Val)	LRRC45 (L358V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468137	NM_144999.4(LRRC45):c.1104G>T (p.Lys368Asn)	LRRC45 (K368N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3351500	NM_144999.4(LRRC45):c.1125+3A>C	LRRC45	Single nucleotide variant (intron variant)	LRRC45-related disorder	GLikely benign
Select item 3350862	NM_144999.4(LRRC45):c.1126-9G>A	LRRC45	Single nucleotide variant (intron variant)	LRRC45-related disorder	GUncertain significance
Select item 3120724	NM_144999.4(LRRC45):c.1132G>A (p.Glu378Lys)	LRRC45 (E378K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393766	NM_144999.4(LRRC45):c.1134G>T (p.Glu378Asp)	LRRC45 (E378D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401889	NM_144999.4(LRRC45):c.1169T>C (p.Leu390Pro)	LRRC45 (L390P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3356882	NM_144999.4(LRRC45):c.1170G>A (p.Leu390=)	LRRC45	Single nucleotide variant (synonymous variant)	LRRC45-related disorder	GLikely benign
Select item 2325911	NM_144999.4(LRRC45):c.1190T>G (p.Met397Arg)	LRRC45 (M397R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120725	NM_144999.4(LRRC45):c.1191G>T (p.Met397Ile)	LRRC45 (M397I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3356190	NM_144999.4(LRRC45):c.1220G>A (p.Arg407Gln)	LRRC45 (R407Q)	Single nucleotide variant (missense variant)	LRRC45-related disorder	GUncertain significance
Select item 3358389	NM_144999.4(LRRC45):c.1237+8C>T	LRRC45	Single nucleotide variant (intron variant)	LRRC45-related disorder	GLikely benign
Select item 3120726	NM_144999.4(LRRC45):c.1248C>A (p.Asp416Glu)	LRRC45 (D416E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3345925	NM_144999.4(LRRC45):c.1259_1263del (p.Arg420fs)	LRRC45 (R420fs)	Microsatellite (frameshift variant)	LRRC45-related disorder	GUncertain significance
Select item 3347924	NM_144999.4(LRRC45):c.1276del (p.Leu426fs)	LRRC45 (L426fs)	Deletion (frameshift variant)	LRRC45-related disorder	GUncertain significance
Select item 3120727	NM_144999.4(LRRC45):c.1282G>A (p.Asp428Asn)	LRRC45 (D428N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291664	NM_144999.4(LRRC45):c.1298G>A (p.Arg433His)	LRRC45 (R433H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530507	NM_144999.4(LRRC45):c.1312G>A (p.Glu438Lys)	LRRC45 (E438K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120728	NM_144999.4(LRRC45):c.1324C>T (p.Arg442Cys)	LRRC45 (R442C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3355678	NM_144999.4(LRRC45):c.1325G>A (p.Arg442His)	LRRC45 (R442H)	Single nucleotide variant (missense variant)	LRRC45-related disorder	GUncertain significance
Select item 3347391	NM_144999.4(LRRC45):c.1357G>A (p.Glu453Lys)	LRRC45 (E453K)	Single nucleotide variant (missense variant)	LRRC45-related disorder	GUncertain significance
Select item 2509540	NM_144999.4(LRRC45):c.1360C>T (p.Arg454Trp)	LRRC45 (R454W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390986	NM_144999.4(LRRC45):c.1361G>A (p.Arg454Gln)	LRRC45 (R454Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3350907	NM_144999.4(LRRC45):c.1412G>A (p.Arg471Gln)	LRRC45 (R471Q)	Single nucleotide variant (missense variant)	LRRC45-related disorder	GUncertain significance
Select item 3352485	NM_144999.4(LRRC45):c.1425G>A (p.Ala475=)	LRRC45	Single nucleotide variant (synonymous variant)	LRRC45-related disorder	GLikely benign
Select item 3350988	NM_144999.4(LRRC45):c.1434C>T (p.Ser478=)	LRRC45	Single nucleotide variant (synonymous variant)	LRRC45-related disorder	GLikely benign
Select item 3035272	NM_144999.4(LRRC45):c.1439G>A (p.Arg480His)	LRRC45 (R480H)	Single nucleotide variant (missense variant)	LRRC45-related disorder	GLikely benign
Select item 2245279	NM_144999.4(LRRC45):c.1453G>A (p.Glu485Lys)	LRRC45 (E485K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3345772	NM_144999.4(LRRC45):c.1475G>C (p.Ser492Thr)	LRRC45 (S492T)	Single nucleotide variant (missense variant)	LRRC45-related disorder	GLikely benign
Select item 2275776	NM_144999.4(LRRC45):c.1481C>T (p.Ala494Val)	LRRC45 (A494V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3347979	NM_144999.4(LRRC45):c.1484G>A (p.Arg495His)	LRRC45 (R495H)	Single nucleotide variant (missense variant)	LRRC45-related disorder	GLikely benign
Select item 3351775	NM_144999.4(LRRC45):c.1538C>G (p.Ala513Gly)	LRRC45 (A513G)	Single nucleotide variant (missense variant)	LRRC45-related disorder	GUncertain significance

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