CDHR3[gene] - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	ADAP1, ADCK2 +4736 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129389880, LOC129389881 +2213 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 152078	GRCh38/hg38 7q22.2-22.3(chr7:104434729-106134635)x3	ATXN7L1, CDHR3 +71 more	Copy number gain	See cases	GUncertain significance
Select item 154561	GRCh38/hg38 7q22.3-31.1(chr7:105575647-107949294)x1	ATXN7L1, BCAP29 +104 more	Copy number loss	See cases	GUncertain significance
Select item 3141390	NM_152750.5(CDHR3):c.47G>C (p.Gly16Ala)	CDHR3 (G16A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141394	NM_152750.5(CDHR3):c.83C>T (p.Thr28Ile)	CDHR3 (T28I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2303395	NM_152750.5(CDHR3):c.127A>C (p.Lys43Gln)	CDHR3 (K43Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379336	NM_152750.5(CDHR3):c.298A>G (p.Ile100Val)	CDHR3 (I100V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141389	NM_152750.5(CDHR3):c.331G>T (p.Val111Phe)	CDHR3 (V111F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284038	NM_152750.5(CDHR3):c.424C>A (p.Leu142Ile)	CDHR3 (L54I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232356	NM_152750.5(CDHR3):c.533C>A (p.Pro178Gln)	CDHR3 (P90Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507999	NM_152750.5(CDHR3):c.602A>G (p.His201Arg)	CDHR3 (H113R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1294429	NM_152750.5(CDHR3):c.622G>A (p.Val208Met)	CDHR3 (V120M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141391	NM_152750.5(CDHR3):c.629T>G (p.Val210Gly)	CDHR3 (V210G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657920	NM_152750.5(CDHR3):c.639T>C (p.Ser213=)	CDHR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2532209	NM_152750.5(CDHR3):c.691G>A (p.Asp231Asn)	CDHR3 (D231N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465932	NM_152750.5(CDHR3):c.703C>T (p.Arg235Cys)	CDHR3 (R147C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320893	NM_152750.5(CDHR3):c.704G>A (p.Arg235His)	CDHR3 (R147H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2282444	NM_152750.5(CDHR3):c.758C>A (p.Thr253Asn)	CDHR3 (T165N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141392	NM_152750.5(CDHR3):c.836T>C (p.Val279Ala)	CDHR3 (V191A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141393	NM_152750.5(CDHR3):c.838A>G (p.Ser280Gly)	CDHR3 (S280G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468734	NM_152750.5(CDHR3):c.982C>A (p.Arg328Ser)	CDHR3 (R328S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600559	NM_152750.5(CDHR3):c.983G>A (p.Arg328His)	CDHR3 (R240H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2468736	NM_152750.5(CDHR3):c.983G>T (p.Arg328Leu)	CDHR3 (R328L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782849	NM_152750.5(CDHR3):c.1011C>T (p.Asp337=)	CDHR3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2592320	NM_152750.5(CDHR3):c.1041G>T (p.Lys347Asn)	CDHR3 (K347N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556587	NM_152750.5(CDHR3):c.1063C>T (p.Pro355Ser)	CDHR3 (P355S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1294430	NM_152750.5(CDHR3):c.1064C>T (p.Pro355Leu)	CDHR3 (P267L +1 more)	Single nucleotide variant (missense variant)	Susceptibility to nonsyndromic otitis media	GUncertain significance
Select item 1294431	NM_152750.5(CDHR3):c.1135C>T (p.Pro379Ser)	CDHR3 (P291S +1 more)	Single nucleotide variant (missense variant)	Susceptibility to nonsyndromic otitis media	GUncertain significance
Select item 2479418	NM_152750.5(CDHR3):c.1163C>G (p.Pro388Arg)	CDHR3 (P300R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768192	NM_152750.5(CDHR3):c.1197G>A (p.Gln399=)	CDHR3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2657921	NM_152750.5(CDHR3):c.1245C>T (p.Tyr415=)	CDHR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2544376	NM_152750.5(CDHR3):c.1285G>A (p.Val429Met)	CDHR3 (V341M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1294432	NM_152750.5(CDHR3):c.1316del (p.Pro439fs)	CDHR3 (P351fs +1 more)	Deletion (frameshift variant)	Susceptibility to nonsyndromic otitis media	GUncertain significance
Select item 2657922	NM_152750.5(CDHR3):c.1332C>T (p.Asn444=)	CDHR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2588810	NM_152750.5(CDHR3):c.1333G>A (p.Val445Ile)	CDHR3 (V445I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2298806	NM_152750.5(CDHR3):c.1339G>A (p.Val447Ile)	CDHR3 (V447I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2474861	NM_152750.5(CDHR3):c.1370T>G (p.Phe457Cys)	CDHR3 (F369C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141383	NM_152750.5(CDHR3):c.1391C>T (p.Pro464Leu)	CDHR3 (P376L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591306	NM_152750.5(CDHR3):c.1397A>C (p.Tyr466Ser)	CDHR3 (Y378S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548401	NM_152750.5(CDHR3):c.1418G>T (p.Arg473Ile)	CDHR3 (R385I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657923	NM_152750.5(CDHR3):c.1426G>A (p.Ala476Thr)	CDHR3 (A388T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2493166	NM_152750.5(CDHR3):c.1436G>T (p.Arg479Leu)	CDHR3 (R391L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515332	NM_152750.5(CDHR3):c.1451G>A (p.Arg484Gln)	CDHR3 (R396Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1294433	NM_152750.5(CDHR3):c.1516C>T (p.Leu506Phe)	CDHR3 (L418F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2474345	NM_152750.5(CDHR3):c.1561C>T (p.Leu521Phe)	CDHR3 (L521F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1294434	NM_152750.5(CDHR3):c.1653+3G>A	CDHR3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2520083	NM_152750.5(CDHR3):c.1775G>A (p.Cys592Tyr)	CDHR3 (C592Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788863	NM_152750.5(CDHR3):c.1807C>T (p.Arg603Cys)	CDHR3 (R515C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3141384	NM_152750.5(CDHR3):c.1813T>A (p.Ser605Thr)	CDHR3 (S517T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298328	NM_152750.5(CDHR3):c.1835A>G (p.Asn612Ser)	CDHR3 (N524S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370727	NM_152750.5(CDHR3):c.1879C>T (p.Arg627Cys)	CDHR3 (R539C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141386	NM_152750.5(CDHR3):c.1880G>A (p.Arg627His)	CDHR3 (R627H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374635	NM_152750.5(CDHR3):c.1948G>T (p.Val650Phe)	CDHR3 (V562F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219268	NM_152750.5(CDHR3):c.2066C>T (p.Thr689Met)	CDHR3 (T601M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543152	NM_152750.5(CDHR3):c.2114A>G (p.Tyr705Cys)	CDHR3 (Y617C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141387	NM_152750.5(CDHR3):c.2123C>G (p.Ser708Cys)	CDHR3 (S708C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141388	NM_152750.5(CDHR3):c.2143G>A (p.Val715Ile)	CDHR3 (V627I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493763	NM_152750.5(CDHR3):c.2162T>C (p.Ile721Thr)	CDHR3 (I721T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235488	NM_152750.5(CDHR3):c.2182G>A (p.Val728Met)	CDHR3 (V728M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1294435	NM_152750.5(CDHR3):c.2185T>C (p.Tyr729His)	CDHR3 (Y641H +1 more)	Single nucleotide variant (missense variant)	Susceptibility to nonsyndromic otitis media	GUncertain significance
Select item 778939	NM_152750.5(CDHR3):c.2194G>A (p.Val732Ile)	CDHR3 (V644I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2312689	NM_152750.5(CDHR3):c.2252A>C (p.Glu751Ala)	CDHR3 (E751A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739247	NM_152750.5(CDHR3):c.2272+4T>G	CDHR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2527459	NM_152750.5(CDHR3):c.2315A>G (p.Gln772Arg)	CDHR3 (Q684R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328843	NM_152750.5(CDHR3):c.2336G>C (p.Gly779Ala)	CDHR3 (G691A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617102	NM_152750.5(CDHR3):c.2387C>T (p.Thr796Ile)	CDHR3 (T708I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1294436	NM_152750.5(CDHR3):c.2392G>T (p.Ala798Ser)	CDHR3 (A710S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2509311	NM_152750.5(CDHR3):c.2459C>T (p.Ala820Val)	CDHR3 (A732V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305748	NM_152750.5(CDHR3):c.2464C>T (p.Arg822Cys)	CDHR3 (R734C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2279685	NM_152750.5(CDHR3):c.2470G>C (p.Val824Leu)	CDHR3 (V736L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276556	NM_152750.5(CDHR3):c.2548G>A (p.Glu850Lys)	CDHR3 (E762K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245840	NC_000007.13:g.(?_102937907)_(108155935_?)del	LAMB4, LHFPL3 +29 more	Deletion	not provided	GPathogenic
Select item 2685260	GRCh37/hg19 7q22.3-31.1(chr7:104536649-109624996)x1	ATXN7L1, BCAP29 +26 more	Copy number loss	not provided	GPathogenic
Select item 2427609	NC_000007.13:g.(?_102937907)_(107643330_?)dup	ATXN7L1, BCAP29 +26 more	Duplication	not provided	GUncertain significance
Select item 2424385	NC_000007.13:g.(?_104456677)_(108155935_?)del	COG5, DLD +23 more	Deletion	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 805920	GRCh37/hg19 7q22.3-31.1(chr7:104506008-107408857)	DUS4L, GPR22 +18 more	Copy number loss	See cases	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 89