ILDR1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	LOC129937337, LOC129937338 +199 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	See cases	GPathogenic
Select item 1203287	NM_001199799.2(ILDR1):c.*265dup	ILDR1	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 667248	NM_001199799.2(ILDR1):c.*11C>T	ILDR1	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 809524	NM_001199799.2(ILDR1):c.1637T>C (p.Ile546Thr)	ILDR1 (I546T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2591131	NM_001199799.2(ILDR1):c.1613C>G (p.Ser538Cys)	ILDR1 (S494C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2189508	NM_001199799.2(ILDR1):c.1600-10T>C	ILDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 179295	NM_001199799.2(ILDR1):c.1600-13T>C	ILDR1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1636882	NM_001199799.2(ILDR1):c.1600-17_1600-16dup	ILDR1	Duplication (intron variant)	not provided	GLikely benign
Select item 1251137	NM_001199799.2(ILDR1):c.1599+234C>T	ILDR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207524	NM_001199799.2(ILDR1):c.1599+231C>T	ILDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1356019	NM_001199799.2(ILDR1):c.1598C>T (p.Ser533Leu)	ILDR1 (S444L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315006	NM_001199799.2(ILDR1):c.1594C>T (p.Arg532Cys)	ILDR1 (R443C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 163694	NM_001199799.2(ILDR1):c.1582A>G (p.Ser528Gly)	ILDR1 (S528G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 44142	NM_001199799.2(ILDR1):c.1581G>A (p.Gly527=)	ILDR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 452276	NM_001199799.2(ILDR1):c.1560C>A (p.Gly520=)	ILDR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 44141	NM_001199799.2(ILDR1):c.1545T>G (p.Leu515=)	ILDR1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 42 +2 more	GBenign
Select item 517336	NM_001199799.2(ILDR1):c.1537C>T (p.Arg513Cys)	ILDR1 (R513C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1559126	NM_001199799.2(ILDR1):c.1527G>A (p.Pro509=)	ILDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 452275	NM_001199799.2(ILDR1):c.1526C>T (p.Pro509Leu)	ILDR1 (P509L +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1521220	NM_001199799.2(ILDR1):c.1516G>A (p.Glu506Lys)	ILDR1 (E506K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1389011	NM_001199799.2(ILDR1):c.1508A>G (p.His503Arg)	ILDR1 (H414R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1405577	NM_001199799.2(ILDR1):c.1507C>T (p.His503Tyr)	ILDR1 (H414Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2158038	NM_001199799.2(ILDR1):c.1504C>G (p.Pro502Ala)	ILDR1 (P458A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 44140	NM_001199799.2(ILDR1):c.1498C>T (p.His500Tyr)	ILDR1 (H500Y +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 737926	NM_001199799.2(ILDR1):c.1497G>A (p.Ser499=)	ILDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172949	NM_001199799.2(ILDR1):c.1491C>T (p.Arg497=)	ILDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1803673	NM_001199799.2(ILDR1):c.1487G>A (p.Arg496His)	ILDR1 (R407H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3109472	NM_001199799.2(ILDR1):c.1486C>T (p.Arg496Cys)	ILDR1 (R496C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252408	NM_001199799.2(ILDR1):c.1478G>A (p.Arg493Gln)	ILDR1 (R404Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2471643	NM_001199799.2(ILDR1):c.1477C>T (p.Arg493Trp)	ILDR1 (R404W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3366254	NM_001199799.2(ILDR1):c.1473C>G (p.Ser491Arg)	ILDR1 (S402R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 517321	NM_001199799.2(ILDR1):c.1461G>A (p.Arg487=)	ILDR1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3343174	NM_001199799.2(ILDR1):c.1445A>G (p.Glu482Gly)	ILDR1 (E393G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3036563	NM_001199799.2(ILDR1):c.1434C>G (p.Ser478=)	ILDR1	Single nucleotide variant (synonymous variant)	ILDR1-related disorder	GLikely benign
Select item 163695	NM_001199799.2(ILDR1):c.1433C>T (p.Ser478Phe)	ILDR1 (S478F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1371549	NM_001199799.2(ILDR1):c.1429A>C (p.Ser477Arg)	ILDR1 (S388R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 505235	NM_001199799.2(ILDR1):c.1425C>A (p.Gly475=)	ILDR1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1210662	NM_001199799.2(ILDR1):c.1422C>T (p.Ser474=)	ILDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3343234	NM_001199799.2(ILDR1):c.1402T>C (p.Tyr468His)	ILDR1 (Y379H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2380233	NM_001199799.2(ILDR1):c.1399A>G (p.Ser467Gly)	ILDR1 (S378G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 930072	NM_001199799.2(ILDR1):c.1388G>A (p.Arg463His)	ILDR1 (R374H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 228746	NM_001199799.2(ILDR1):c.1385G>A (p.Arg462Gln)	ILDR1 (R462Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 562073	NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter)	ILDR1 (R462* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 42 +1 more	GPathogenic/Likely pathogenic
Select item 227439	NM_001199799.2(ILDR1):c.1378G>A (p.Gly460Arg)	ILDR1 (G460R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 498658	NM_001199799.2(ILDR1):c.1377C>T (p.His459=)	ILDR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 163696	NM_001199799.2(ILDR1):c.1360G>A (p.Glu454Lys)	ILDR1 (E454K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203411	NM_001199799.2(ILDR1):c.1358G>A (p.Arg453Gln)	ILDR1 (R409Q +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 42 +1 more	GConflicting classifications of pathogenicity
Select item 667249	NM_001199799.2(ILDR1):c.1357del (p.Arg453fs)	ILDR1 (R364fs +2 more)	Deletion (frameshift variant)	not specified +1 more	GUncertain significance
Select item 517351	NM_001199799.2(ILDR1):c.1357C>T (p.Arg453Trp)	ILDR1 (R453W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 449950	NM_001199799.2(ILDR1):c.1342C>T (p.Arg448Cys)	ILDR1 (R448C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 178381	NM_001199799.2(ILDR1):c.1326C>A (p.Arg442=)	ILDR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 44139	NM_001199799.2(ILDR1):c.1325G>A (p.Arg442His)	ILDR1 (R442H +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 178383	NM_001199799.2(ILDR1):c.1324C>T (p.Arg442Cys)	ILDR1 (R442C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1013212	NM_001199799.2(ILDR1):c.1323C>T (p.Ser441=)	ILDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1032698	NM_001199799.2(ILDR1):c.1312C>T (p.Pro438Ser)	ILDR1 (P349S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 42	GUncertain significance
Select item 2289263	NM_001199799.2(ILDR1):c.1306C>T (p.His436Tyr)	ILDR1 (H392Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254654	NM_001199799.2(ILDR1):c.1291_1305delinsGTGAGG (p.Arg431_Ser435delinsValArg)	ILDR1	Indel (inframe_indel)	Autosomal recessive nonsyndromic hearing loss 42	GUncertain significance
Select item 504523	NM_001199799.2(ILDR1):c.1305C>A (p.Ser435Arg)	ILDR1 (S435R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1691657	NM_001199799.2(ILDR1):c.1301C>T (p.Pro434Leu)	ILDR1 (P345L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 44138	NM_001199799.2(ILDR1):c.1298G>A (p.Arg433Gln)	ILDR1 (R433Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 504596	NM_001199799.2(ILDR1):c.1297C>T (p.Arg433Trp)	ILDR1 (R433W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 198462	NM_001199799.2(ILDR1):c.1292G>A (p.Arg431His)	ILDR1 (R431H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504597	NM_001199799.2(ILDR1):c.1291C>T (p.Arg431Cys)	ILDR1 (R431C +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 451625	NM_001199799.2(ILDR1):c.1267G>A (p.Asp423Asn)	ILDR1 (D423N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2105060	NM_001199799.2(ILDR1):c.1253G>A (p.Arg418Lys)	ILDR1 (R329K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 228738	NM_001199799.2(ILDR1):c.1245G>T (p.Trp415Cys)	ILDR1 (W415C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542256	NM_001199799.2(ILDR1):c.1240C>T (p.His414Tyr)	ILDR1 (H414Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 44137	NM_001199799.2(ILDR1):c.1238T>C (p.Ile413Thr)	ILDR1 (I413T +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2597328	NM_001199799.2(ILDR1):c.1235C>T (p.Pro412Leu)	ILDR1 (P323L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1181111	NM_001199799.2(ILDR1):c.1227T>C (p.Asn409=)	ILDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180844	NM_001199799.2(ILDR1):c.1211G>A (p.Arg404His)	ILDR1 (R315H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898104	NM_001199799.2(ILDR1):c.1210C>A (p.Arg404Ser)	ILDR1 (R360S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 227438	NM_001199799.2(ILDR1):c.1194G>A (p.Ser398=)	ILDR1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1312574	NM_001199799.2(ILDR1):c.1193C>T (p.Ser398Leu)	ILDR1 (S309L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934501	NM_001199799.2(ILDR1):c.1186G>A (p.Asp396Asn)	ILDR1 (D352N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1191623	NM_001199799.2(ILDR1):c.1184T>C (p.Leu395Ser)	ILDR1 (L306S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2689866	NM_001199799.2(ILDR1):c.1180del (p.Glu394fs)	ILDR1 (E305fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 42	GPathogenic
Select item 2262208	NM_001199799.2(ILDR1):c.1176A>C (p.Arg392Ser)	ILDR1 (R303S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207795	NM_001199799.2(ILDR1):c.1169T>C (p.Leu390Ser)	ILDR1 (L301S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 744811	NM_001199799.2(ILDR1):c.1168T>C (p.Leu390=)	ILDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1216104	NM_001199799.2(ILDR1):c.1165G>A (p.Ala389Thr)	ILDR1 (A300T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 560892	NM_001199799.2(ILDR1):c.1161_1162del (p.Trp388fs)	ILDR1 (W299fs +2 more)	Deletion (frameshift variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 44136	NM_001199799.2(ILDR1):c.1162T>C (p.Trp388Arg)	ILDR1 (W388R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 42 +2 more	GBenign
Select item 517165	NM_001199799.2(ILDR1):c.1160C>G (p.Ser387Cys)	ILDR1 (S387C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 178382	NM_001199799.2(ILDR1):c.1159T>C (p.Ser387Pro)	ILDR1 (S387P +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 517456	NM_001199799.2(ILDR1):c.1158G>C (p.Lys386Asn)	ILDR1 (K386N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1917992	NM_001199799.2(ILDR1):c.1148G>A (p.Arg383Gln)	ILDR1 (R339Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996672	NM_001199799.2(ILDR1):c.1137del (p.Glu379fs)	ILDR1 (E290fs +2 more)	Deletion (frameshift variant)	Hearing loss, autosomal recessive	GLikely pathogenic
Select item 517458	NM_001199799.2(ILDR1):c.1137G>C (p.Glu379Asp)	ILDR1 (E379D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 30796	NM_001199799.2(ILDR1):c.1135G>T (p.Glu379Ter)	ILDR1 (E379* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 42	GPathogenic

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