ClinVar for Gene (Select 100529251) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2588096	NM_052999.4(CMTM1):c.398T>C (p.Phe133Ser)	CKLF-CMTM1, CMTM1 (F133S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541433	NM_052999.4(CMTM1):c.256C>G (p.Pro86Ala)	CKLF-CMTM1, CMTM1 (P86A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530938	NM_052999.4(CMTM1):c.375G>T (p.Arg125Ser)	CKLF-CMTM1, CMTM1 (R125S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520596	NM_052999.4(CMTM1):c.13C>T (p.His5Tyr)	CKLF-CMTM1, CMTM1 (H5Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492220	NM_052999.4(CMTM1):c.283A>G (p.Thr95Ala)	CKLF-CMTM1, CMTM1 (T95A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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	AARS1, ACD +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2406921	NM_052999.4(CMTM1):c.179G>C (p.Ser60Thr)	CKLF-CMTM1, CMTM1 (S60T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2401112	NM_052999.4(CMTM1):c.259C>T (p.Pro87Ser)	CKLF-CMTM1, CMTM1 (P87S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396471	NM_016951.4(CKLF):c.308C>A (p.Thr103Asn)	CKLF-CMTM1, CKLF (T103N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359380	NM_052999.4(CMTM1):c.86G>A (p.Ser29Asn)	CKLF-CMTM1, CMTM1 (S29N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347906	NM_052999.4(CMTM1):c.196G>A (p.Ala66Thr)	CMTM1, CKLF-CMTM1 (A66T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2321830	NM_052999.4(CMTM1):c.553C>G (p.Leu185Val)	CMTM1, CKLF-CMTM1 (L185V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296634	NM_052999.4(CMTM1):c.163G>A (p.Ala55Thr)	CMTM1, CKLF-CMTM1 (A55T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292613	NM_052999.4(CMTM1):c.175C>T (p.Arg59Cys)	CMTM1, CKLF-CMTM1 (R59C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276843	NM_016951.4(CKLF):c.338T>C (p.Phe113Ser)	CKLF, CKLF-CMTM1 (F28S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235448	NM_016951.4(CKLF):c.286G>A (p.Val96Met)	CKLF-CMTM1, CKLF (V43M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +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 808176	GRCh37/hg19 16q21-22.1(chr16:64981506-66806661)x3	TK2, BEAN1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 782141	NM_016951.4(CKLF):c.435G>A (p.Val145=)	CKLF, CKLF-CMTM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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	AARS1, ABCC11 +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	ADCY7, ADGRG1 +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	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 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, ADGRG3 +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 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
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	CARMIL2, CIAPIN1 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LINC02168, LINC02169 +675 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	AARS1, ACD +869 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	LOC128772417, LOC128772418 +939 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 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	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 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC130059153, LOC130059154 +1426 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 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	AARS1, ACD +599 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 48