CDH16[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59491	GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1	ACD, AGRP +176 more	Copy number loss	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 145310	GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1	ATP6V0D1, B3GNT9 +113 more	Copy number loss	See cases	GPathogenic
Select item 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 148293	GRCh38/hg38 16q22.1(chr16:66893204-67357178)x3	B3GNT9, CBFB +70 more	Copy number gain	See cases	GUncertain significance
Select item 2257829	NM_004062.4(CDH16):c.2444A>G (p.Asp815Gly)	CDH16 (D718G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141141	NM_004062.4(CDH16):c.2417C>T (p.Thr806Ile)	CDH16 (T709I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376532	NM_004062.4(CDH16):c.2338A>G (p.Met780Val)	CDH16 (M683V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141140	NM_004062.4(CDH16):c.2314C>A (p.Arg772Ser)	CDH16 (R675S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141139	NM_004062.4(CDH16):c.2296G>A (p.Val766Met)	CDH16 (V727M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337783	NM_004062.4(CDH16):c.2246A>G (p.Asn749Ser)	CDH16 (N652S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784344	NM_004062.4(CDH16):c.2150G>A (p.Arg717His)	CDH16 (R620H +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3265197	NM_004062.4(CDH16):c.2147G>T (p.Trp716Leu)	CDH16 (W716L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141138	NM_004062.4(CDH16):c.2113A>G (p.Thr705Ala)	CDH16 (T683A +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2290218	NM_004062.4(CDH16):c.1979C>T (p.Pro660Leu)	CDH16 (P660L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265188	NM_004062.4(CDH16):c.1978C>T (p.Pro660Ser)	CDH16 (P660S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141137	NM_004062.4(CDH16):c.1949C>T (p.Ala650Val)	CDH16 (A553V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2485164	NM_004062.4(CDH16):c.1941C>A (p.Ser647Arg)	CDH16 (S647R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141136	NM_004062.4(CDH16):c.1931C>T (p.Pro644Leu)	CDH16 (P644L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283482	NM_004062.4(CDH16):c.1913C>T (p.Ala638Val)	CDH16 (A638V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265195	NM_004062.4(CDH16):c.1895A>G (p.Tyr632Cys)	CDH16 (Y632C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141135	NM_004062.4(CDH16):c.1885G>C (p.Gly629Arg)	CDH16 (G629R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240076	NM_004062.4(CDH16):c.1774A>G (p.Ile592Val)	CDH16 (I592V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141134	NM_004062.4(CDH16):c.1738G>A (p.Gly580Ser)	CDH16 (G580S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265198	NM_004062.4(CDH16):c.1648A>T (p.Thr550Ser)	CDH16 (T453S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252401	NM_004062.4(CDH16):c.1646C>A (p.Ala549Asp)	CDH16 (A452D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141133	NM_004062.4(CDH16):c.1585G>A (p.Val529Met)	CDH16 (V529M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265196	NM_004062.4(CDH16):c.1570C>A (p.Pro524Thr)	CDH16 (P524T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323804	NM_004062.4(CDH16):c.1531A>G (p.Arg511Gly)	CDH16 (R414G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2336567	NM_004062.4(CDH16):c.1511A>T (p.Glu504Val)	CDH16 (E504V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407488	NM_004062.4(CDH16):c.1484C>G (p.Thr495Arg)	CDH16 (T398R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386084	NM_004062.4(CDH16):c.1451G>A (p.Arg484His)	CDH16 (R387H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341169	NM_004062.4(CDH16):c.1438G>A (p.Glu480Lys)	CDH16 (E383K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251188	NM_004062.4(CDH16):c.1435C>T (p.Leu479Phe)	CDH16 (L479F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410864	NM_004062.4(CDH16):c.1420G>A (p.Ala474Thr)	CDH16 (A474T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265194	NM_004062.4(CDH16):c.1378C>T (p.Pro460Ser)	CDH16 (P460S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472098	NM_004062.4(CDH16):c.1328A>G (p.Asn443Ser)	CDH16 (N346S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141131	NM_004062.4(CDH16):c.1312G>T (p.Ala438Ser)	CDH16 (A341S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234775	NM_004062.4(CDH16):c.1271G>A (p.Gly424Asp)	CDH16 (G327D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358155	NM_004062.4(CDH16):c.1258A>G (p.Met420Val)	CDH16 (M323V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2317182	NM_004062.4(CDH16):c.1166G>A (p.Arg389Lys)	CDH16 (R292K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310393	NM_004062.4(CDH16):c.1153G>A (p.Gly385Arg)	CDH16 (G288R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720839	NM_004062.4(CDH16):c.1131C>T (p.Leu377=)	CDH16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3141129	NM_004062.4(CDH16):c.1109A>G (p.Asn370Ser)	CDH16 (N273S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608873	NM_004062.4(CDH16):c.1103C>A (p.Ser368Tyr)	CDH16 (S271Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141128	NM_004062.4(CDH16):c.1099G>A (p.Gly367Ser)	CDH16 (G367S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141127	NM_004062.4(CDH16):c.1025C>T (p.Thr342Ile)	CDH16 (T342I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278071	NM_004062.4(CDH16):c.986A>G (p.Glu329Gly)	CDH16 (E329G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141150	NM_004062.4(CDH16):c.970G>C (p.Val324Leu)	CDH16 (V324L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141149	NM_004062.4(CDH16):c.961G>C (p.Glu321Gln)	CDH16 (E224Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241032	NM_004062.4(CDH16):c.920G>C (p.Arg307Pro)	CDH16 (R210P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265190	NM_004062.4(CDH16):c.905A>T (p.Tyr302Phe)	CDH16 (Y302F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743166	NM_004062.4(CDH16):c.849T>C (p.Asn283=)	CDH16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3265192	NM_004062.4(CDH16):c.836C>T (p.Pro279Leu)	CDH16 (P182L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354566	NM_004062.4(CDH16):c.830C>T (p.Pro277Leu)	CDH16 (P180L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3265191	NM_004062.4(CDH16):c.727C>T (p.Pro243Ser)	CDH16 (P243S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141145	NM_004062.4(CDH16):c.645C>A (p.Asp215Glu)	CDH16 (D215E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141144	NM_004062.4(CDH16):c.631G>A (p.Val211Ile)	CDH16 (V211I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141143	NM_004062.4(CDH16):c.605C>T (p.Ala202Val)	CDH16 (A202V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409181	NM_004062.4(CDH16):c.553C>T (p.Arg185Trp)	CDH16 (R185W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310310	NM_004062.4(CDH16):c.451T>C (p.Ser151Pro)	CDH16 (S151P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391735	NM_004062.4(CDH16):c.441C>G (p.Phe147Leu)	CDH16 (F147L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555046	NM_004062.4(CDH16):c.367G>T (p.Val123Leu)	CDH16 (V123L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141142	NM_004062.4(CDH16):c.307G>A (p.Gly103Arg)	CDH16 (G103R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2378441	NM_004062.4(CDH16):c.161A>T (p.Gln54Leu)	CDH16 (Q54L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141132	NM_004062.4(CDH16):c.143G>A (p.Arg48His)	CDH16 (R48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727735	NM_004062.4(CDH16):c.129+8G>A	CDH16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3141146	NM_004062.4(CDH16):c.85G>T (p.Val29Phe)	CDH16 (V29F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305928	NM_004062.4(CDH16):c.56A>T (p.Lys19Met)	CDH16 (K19M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231996	NM_004062.4(CDH16):c.41C>T (p.Pro14Leu)	CDH16 (P14L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265189	NM_004062.4(CDH16):c.37G>A (p.Val13Ile)	CDH16 (V13I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 2684807	GRCh37/hg19 16q21-22.1(chr16:66110708-67240652)x3	B3GNT9, BEAN1 +30 more	Copy number gain	not provided	GUncertain significance
Select item 2424194	NC_000016.9:g.(?_65821800)_(67208957_?)del	B3GNT9, BEAN1 +25 more	Deletion	not provided	GPathogenic
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 688030	GRCh37/hg19 16q22.1(chr16:66797153-67109495)x3	CA7, CBFB +9 more	Copy number gain	not provided	GUncertain significance
Select item 685973	GRCh37/hg19 16q22.1(chr16:66876199-67150370)x3	PDP2, PHAF1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442784	GRCh37/hg19 16q21-22.1(chr16:66537021-67369281)x3	B3GNT9, CA7 +35 more	Copy number gain	See cases	GUncertain significance
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance

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