ClinVar for Gene (Select 387597) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338187	NM_199351.3(ILDR2):c.1187_1188del (p.Glu396fs)	ILDR2 (E337fs +2 more)	Microsatellite (frameshift variant)	Autism	GUncertain significance
Select item 3285918	NM_199351.3(ILDR2):c.674G>T (p.Cys225Phe)	ILDR2 (C225F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285917	NM_199351.3(ILDR2):c.1442G>A (p.Arg481His)	ILDR2 (R481H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285916	NM_199351.3(ILDR2):c.24G>T (p.Trp8Cys)	ILDR2 (W8C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285915	NM_199351.3(ILDR2):c.875A>T (p.His292Leu)	ILDR2 (H292L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109485	NM_199351.3(ILDR2):c.997A>G (p.Asn333Asp)	ILDR2 (N274D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109484	NM_199351.3(ILDR2):c.895C>T (p.Arg299Trp)	ILDR2 (R240W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109483	NM_199351.3(ILDR2):c.754G>A (p.Gly252Ser)	ILDR2 (G252S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109482	NM_199351.3(ILDR2):c.1850A>G (p.Glu617Gly)	ILDR2 (E558G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109481	NM_199351.3(ILDR2):c.1721A>G (p.Tyr574Cys)	ILDR2 (Y555C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109479	NM_199351.3(ILDR2):c.1577A>C (p.His526Pro)	ILDR2 (H467P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109478	NM_199351.3(ILDR2):c.151C>G (p.Pro51Ala)	ILDR2 (P51A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109477	NM_199351.3(ILDR2):c.1393C>T (p.His465Tyr)	ILDR2 (H406Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109476	NM_199351.3(ILDR2):c.1226A>G (p.Lys409Arg)	ILDR2 (K350R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 2599788	NM_199351.3(ILDR2):c.373G>A (p.Val125Ile)	ILDR2 (V125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588417	NM_199351.3(ILDR2):c.164A>G (p.Gln55Arg)	ILDR2 (Q55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553771	NM_199351.3(ILDR2):c.1064A>G (p.Gln355Arg)	ILDR2 (Q296R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543516	NM_199351.3(ILDR2):c.1507A>G (p.Arg503Gly)	ILDR2 (R484G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529140	NM_199351.3(ILDR2):c.90G>C (p.Lys30Asn)	ILDR2 (K30N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524875	NM_199351.3(ILDR2):c.1679C>T (p.Pro560Leu)	ILDR2 (P501L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524583	NM_199351.3(ILDR2):c.984G>A (p.Met328Ile)	ILDR2 (M309I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492367	NM_199351.3(ILDR2):c.1594G>A (p.Ala532Thr)	ILDR2 (A532T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490334	NM_199351.3(ILDR2):c.226C>T (p.Arg76Trp)	ILDR2 (R76W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483957	NM_199351.3(ILDR2):c.1652C>T (p.Pro551Leu)	ILDR2 (P492L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475190	NM_199351.3(ILDR2):c.393A>C (p.Gln131His)	ILDR2 (Q131H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461989	NM_199351.3(ILDR2):c.1465A>G (p.Thr489Ala)	ILDR2 (T430A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460605	NM_199351.3(ILDR2):c.1212C>G (p.Ser404Arg)	ILDR2 (S404R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396917	NM_199351.3(ILDR2):c.1193G>A (p.Arg398Gln)	ILDR2 (R339Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386415	NM_199351.3(ILDR2):c.1765G>A (p.Asp589Asn)	ILDR2 (D589N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384002	NM_199351.3(ILDR2):c.1176G>C (p.Glu392Asp)	ILDR2 (E373D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382986	NM_199351.3(ILDR2):c.1036G>A (p.Asp346Asn)	ILDR2 (D287N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2378310	NM_199351.3(ILDR2):c.320A>G (p.Gln107Arg)	ILDR2 (Q107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375245	NM_199351.3(ILDR2):c.1744G>T (p.Asp582Tyr)	ILDR2 (D523Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338160	NM_199351.3(ILDR2):c.1545C>A (p.Ser515Arg)	ILDR2 (S515R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334096	NM_199351.3(ILDR2):c.677C>T (p.Pro226Leu)	ILDR2 (P226L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322313	NM_199351.3(ILDR2):c.55G>A (p.Glu19Lys)	ILDR2 (E19K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2313758	NM_199351.3(ILDR2):c.1832C>T (p.Pro611Leu)	ILDR2 (P592L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313698	NM_199351.3(ILDR2):c.1418C>A (p.Ser473Tyr)	ILDR2 (S473Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313162	NM_199351.3(ILDR2):c.817C>G (p.Leu273Val)	ILDR2 (L254V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239729	NM_199351.3(ILDR2):c.1660C>T (p.Arg554Trp)	ILDR2 (R495W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234311	NM_199351.3(ILDR2):c.1798A>G (p.Thr600Ala)	ILDR2 (T541A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220654	NM_199351.3(ILDR2):c.1667C>T (p.Ala556Val)	ILDR2 (A497V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 982219	NM_199351.3(ILDR2):c.1049G>A (p.Arg350His)	ILDR2 (R350H)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 979302	GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1	STYXL2, GPR161 +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 814136	GRCh37/hg19 1q24.1-24.2(chr1:166284108-167681975)x1	CREG1, TADA1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 724722	NM_199351.3(ILDR2):c.219C>T (p.Ser73=)	ILDR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688465	GRCh37/hg19 1q23.3-24.2(chr1:163093021-168991239)x1	ADCY10, ALDH9A1 +30 more	Copy number loss	not provided	GPathogenic
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 687239	GRCh37/hg19 1q24.1(chr1:165989619-166951388)x1	FAM78B, ILDR2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 150235	GRCh38/hg38 1q24.1(chr1:166031546-166979276)x1	FAM78B, FAM78B-AS1 +33 more	Copy number loss	See cases	GUncertain significance
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60043	GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1	LOC129931815, LOC129931816 +151 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 64