CDHR2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 154580	GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)x3	ARL10, BOD1 +131 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 58122	GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3	FAM153A, FAM153B +176 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154297	GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 59300	GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 59301	GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1	LOC129995374, LOC129995375 +136 more	Copy number loss	See cases	GPathogenic
Select item 154443	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1	ARL10, B4GALT7 +142 more	Copy number loss	See cases	GPathogenic
Select item 57051	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1	ARL10, CDHR2 +129 more	Copy number loss	See cases	GPathogenic
Select item 155396	GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1	ARL10, B4GALT7 +141 more	Copy number loss	See cases	GPathogenic
Select item 59634	GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3	ARL10, B4GALT7 +137 more	Copy number gain	See cases	GPathogenic
Select item 59303	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1	ARL10, B4GALT7 +134 more	Copy number loss	See cases	GPathogenic
Select item 59302	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1	ARL10, B4GALT7 +140 more	Copy number loss	See cases	GPathogenic
Select item 153772	GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1	ARL10, B4GALT7 +172 more	Copy number loss	See cases	GPathogenic
Select item 2579264	GRCh38/hg38 5q35.2-35.3(chr5:176447531-177312407)x1	LOC129995352, LOC129995353 +65 more	Copy number loss	Sotos syndrome	GPathogenic
Select item 1707460	Single allele	CDHR2, EIF4E1B +71 more	Duplication	5q35 microduplication syndrome	GPathogenic
Select item 154471	GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1	B4GALT7, CDHR2 +113 more	Copy number loss	See cases	GPathogenic
Select item 2331204	NM_017675.6(CDHR2):c.71C>T (p.Pro24Leu)	CDHR2 (P24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497709	NM_017675.6(CDHR2):c.92C>T (p.Thr31Met)	CDHR2 (T31M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3141360	NM_017675.6(CDHR2):c.169C>T (p.Pro57Ser)	CDHR2 (P57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351527	NM_017675.6(CDHR2):c.186G>T (p.Met62Ile)	CDHR2 (M62I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2592750	NM_017675.6(CDHR2):c.211G>A (p.Ala71Thr)	CDHR2 (A71T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242048	NM_017675.6(CDHR2):c.241C>G (p.Leu81Val)	CDHR2 (L81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656086	NM_017675.6(CDHR2):c.249C>T (p.Ser83=)	CDHR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2389543	NM_017675.6(CDHR2):c.289A>G (p.Ile97Val)	CDHR2 (I97V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656087	NM_017675.6(CDHR2):c.366C>T (p.Pro122=)	CDHR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2404181	NM_017675.6(CDHR2):c.367G>A (p.Val123Ile)	CDHR2 (V123I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265345	NM_017675.6(CDHR2):c.397A>C (p.Ile133Leu)	CDHR2 (I133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141380	NM_017675.6(CDHR2):c.491A>T (p.Glu164Val)	CDHR2 (E164V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265354	NM_017675.6(CDHR2):c.533G>A (p.Arg178Gln)	CDHR2 (R178Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607513	NM_017675.6(CDHR2):c.664T>G (p.Ser222Ala)	CDHR2 (S222A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350395	NM_017675.6(CDHR2):c.740C>T (p.Ser247Leu)	CDHR2 (S247L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349382	NM_017675.6(CDHR2):c.785C>T (p.Thr262Met)	CDHR2 (T262M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324825	NM_017675.6(CDHR2):c.842C>T (p.Ser281Phe)	CDHR2 (S281F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508308	NM_017675.6(CDHR2):c.851C>A (p.Thr284Lys)	CDHR2 (T284K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265362	NM_017675.6(CDHR2):c.875G>T (p.Gly292Val)	CDHR2 (G292V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141381	NM_017675.6(CDHR2):c.881A>T (p.Asp294Val)	CDHR2 (D294V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265344	NM_017675.6(CDHR2):c.884G>C (p.Gly295Ala)	CDHR2 (G295A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141382	NM_017675.6(CDHR2):c.914G>C (p.Arg305Pro)	CDHR2 (R305P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265353	NM_017675.6(CDHR2):c.988G>A (p.Gly330Arg)	CDHR2 (G330R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141356	NM_017675.6(CDHR2):c.1096G>A (p.Glu366Lys)	CDHR2 (E366K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141357	NM_017675.6(CDHR2):c.1126G>A (p.Val376Met)	CDHR2 (V376M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405824	NM_017675.6(CDHR2):c.1133A>T (p.Glu378Val)	CDHR2 (E378V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313876	NM_017675.6(CDHR2):c.1147C>G (p.Arg383Gly)	CDHR2 (R383G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265360	NM_017675.6(CDHR2):c.1187C>T (p.Pro396Leu)	CDHR2 (P396L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656088	NM_017675.6(CDHR2):c.1188G>A (p.Pro396=)	CDHR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2321477	NM_017675.6(CDHR2):c.1196G>A (p.Gly399Asp)	CDHR2 (G399D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656089	NM_017675.6(CDHR2):c.1221G>A (p.Ser407=)	CDHR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2483915	NM_017675.6(CDHR2):c.1267G>A (p.Ala423Thr)	CDHR2 (A423T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355012	NM_017675.6(CDHR2):c.1285G>A (p.Val429Ile)	CDHR2 (V429I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141358	NM_017675.6(CDHR2):c.1297G>A (p.Val433Met)	CDHR2 (V433M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265347	NM_017675.6(CDHR2):c.1298T>G (p.Val433Gly)	CDHR2 (V433G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402821	NM_017675.6(CDHR2):c.1352T>C (p.Val451Ala)	CDHR2 (V451A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141359	NM_017675.6(CDHR2):c.1436C>T (p.Thr479Met)	CDHR2 (T479M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266438	NM_017675.6(CDHR2):c.1452G>T (p.Leu484Phe)	CDHR2 (L484F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304902	NM_017675.6(CDHR2):c.1456G>A (p.Val486Ile)	CDHR2 (V486I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2328932	NM_017675.6(CDHR2):c.1501G>A (p.Asp501Asn)	CDHR2 (D501N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2226388	NM_017675.6(CDHR2):c.1534G>A (p.Ala512Thr)	CDHR2 (A512T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527987	NM_017675.6(CDHR2):c.1557C>G (p.Ser519Arg)	CDHR2 (S519R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536939	NM_017675.6(CDHR2):c.1568G>A (p.Gly523Glu)	CDHR2 (G523E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300229	NM_017675.6(CDHR2):c.1612G>C (p.Val538Leu)	CDHR2 (V538L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401986	NM_017675.6(CDHR2):c.1616C>T (p.Thr539Met)	CDHR2 (T539M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227317	NM_017675.6(CDHR2):c.1652A>G (p.Gln551Arg)	CDHR2, LOC123575630 (Q551R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141361	NM_017675.6(CDHR2):c.1726C>G (p.Leu576Val)	CDHR2, LOC123575630 (L576V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265363	NM_017675.6(CDHR2):c.1772A>G (p.Asn591Ser)	CDHR2, LOC123575630 (N591S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355702	NM_017675.6(CDHR2):c.1777T>C (p.Phe593Leu)	CDHR2, LOC123575630 (F593L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337981	NM_017675.6(CDHR2):c.1901C>G (p.Ser634Cys)	CDHR2 (S634C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541280	NM_017675.6(CDHR2):c.1909C>A (p.Pro637Thr)	CDHR2 (P637T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141362	NM_017675.6(CDHR2):c.1966G>A (p.Ala656Thr)	CDHR2 (A656T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411689	NM_017675.6(CDHR2):c.1979G>A (p.Arg660His)	CDHR2 (R660H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265356	NM_017675.6(CDHR2):c.1990A>G (p.Thr664Ala)	CDHR2 (T664A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656090	NM_017675.6(CDHR2):c.2014G>A (p.Glu672Lys)	CDHR2 (E672K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2656091	NM_017675.6(CDHR2):c.2066A>G (p.Asn689Ser)	CDHR2 (N689S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3265364	NM_017675.6(CDHR2):c.2110G>A (p.Val704Met)	CDHR2 (V704M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265366	NM_017675.6(CDHR2):c.2122G>A (p.Asp708Asn)	CDHR2 (D708N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588180	NM_017675.6(CDHR2):c.2161G>A (p.Ala721Thr)	CDHR2 (A721T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141363	NM_017675.6(CDHR2):c.2194T>G (p.Phe732Val)	CDHR2 (F732V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265357	NM_017675.6(CDHR2):c.2213G>C (p.Gly738Ala)	CDHR2 (G738A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327271	NM_017675.6(CDHR2):c.2266G>A (p.Gly756Ser)	CDHR2 (G756S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405884	NM_017675.6(CDHR2):c.2276G>A (p.Arg759Gln)	CDHR2 (R759Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141364	NM_017675.6(CDHR2):c.2279T>C (p.Leu760Pro)	CDHR2 (L760P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141366	NM_017675.6(CDHR2):c.2305G>A (p.Glu769Lys)	CDHR2 (E769K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239756	NM_017675.6(CDHR2):c.2339C>G (p.Ala780Gly)	CDHR2 (A780G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515491	NM_017675.6(CDHR2):c.2359G>C (p.Gly787Arg)	CDHR2 (G787R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354194	NM_017675.6(CDHR2):c.2359G>T (p.Gly787Trp)	CDHR2 (G787W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359965	NM_017675.6(CDHR2):c.2362G>T (p.Gly788Cys)	CDHR2 (G788C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359668	NM_017675.6(CDHR2):c.2365G>A (p.Glu789Lys)	CDHR2 (E789K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656092	NM_017675.6(CDHR2):c.2385C>T (p.Cys795=)	CDHR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2286571	NM_017675.6(CDHR2):c.2410A>T (p.Asn804Tyr)	CDHR2 (N804Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141367	NM_017675.6(CDHR2):c.2449C>T (p.Arg817Cys)	CDHR2 (R817C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265346	NM_017675.6(CDHR2):c.2476G>A (p.Gly826Ser)	CDHR2 (G826S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141368	NM_017675.6(CDHR2):c.2501C>T (p.Ser834Leu)	CDHR2 (S834L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265348	NM_017675.6(CDHR2):c.2518G>A (p.Ala840Thr)	CDHR2 (A840T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616444	NM_017675.6(CDHR2):c.2552G>A (p.Cys851Tyr)	CDHR2 (C851Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362437	NM_017675.6(CDHR2):c.2630A>G (p.Asn877Ser)	CDHR2 (N877S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243990	NM_017675.6(CDHR2):c.2655G>T (p.Glu885Asp)	CDHR2 (E885D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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