ClinVar for Gene (Select 124491) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3178953	NM_145254.3(TMEM170A):c.4G>A (p.Glu2Lys)	TMEM170A (E2K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178952	NM_145254.3(TMEM170A):c.248C>A (p.Ser83Tyr)	TMEM170A (S45Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063405	GRCh37/hg19 16q23.1(chr16:75407039-75524905)x1	CFDP1, CHST6 +1 more	Copy number loss	not specified	GPathogenic
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2532028	NM_145254.3(TMEM170A):c.175C>G (p.Leu59Val)	TMEM170A (L21V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481828	NM_145254.3(TMEM170A):c.7C>T (p.Arg3Cys)	TMEM170A (R3C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381213	NM_145254.3(TMEM170A):c.91G>A (p.Gly31Arg)	TMEM170A (G31R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349185	NM_145254.3(TMEM170A):c.97C>G (p.Leu33Val)	TMEM170A (L33V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334341	NM_145254.3(TMEM170A):c.230A>G (p.Lys77Arg)	TMEM170A (K77R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298451	NM_145254.3(TMEM170A):c.416G>C (p.Arg139Pro)	TMEM170A (R71P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230252	NM_145254.3(TMEM170A):c.103C>G (p.Pro35Ala)	TMEM170A (P35A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809475	GRCh37/hg19 16q22.3-23.1(chr16:73858079-75855162)x1	ADAT1, BCAR1 +21 more	Copy number loss	not provided	GUncertain significance
Select item 1809401	GRCh37/hg19 16q22.3-23.1(chr16:73673334-78137887)x1	ADAMTS18, ADAT1 +29 more	Copy number loss	not provided	GUncertain significance
Select item 1809163	GRCh37/hg19 16q22.3-23.1(chr16:73673334-76105189)x4	ADAT1, BCAR1 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1682045	NC_000016.9:g.(?_75428968)_(75690509_?)del	CHST5, CHST6 +7 more	Deletion	not provided	GPathogenic
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 1459206	NC_000016.9:g.(?_74748068)_(75513746_?)del	BCAR1, CFDP1 +9 more	Deletion	Macular corneal dystrophy	GPathogenic
Select item 1457752	NC_000016.9:g.(?_75490611)_(75576599_?)del	CHST5, CHST6 +2 more	Deletion	Joubert syndrome 20 +1 more	GPathogenic
Select item 980695	GRCh37/hg19 16q23.1(chr16:75281963-75665698)x3	CFDP1, KARS1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 979473	GRCh37/hg19 16q23.1(chr16:75064591-75549654)x1	ZFP1, BCAR1 +7 more	Copy number loss	not provided	GUncertain significance
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 688904	GRCh37/hg19 16q23.1(chr16:75494923-75539525)x1	CHST6, TMEM170A	Copy number loss	not provided	GUncertain significance
Select item 687487	GRCh37/hg19 16q23.1(chr16:75225021-75533658)x3	BCAR1, CFDP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686376	GRCh37/hg19 16q22.2-23.1(chr16:72677179-77439111)x1	ADAMTS18, ADAT1 +27 more	Copy number loss	not provided	GUncertain significance
Select item 685979	GRCh37/hg19 16q23.1(chr16:75275780-75684031)x1	ADAT1, BCAR1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 624544	GRCh37/hg19 16q23.1(chr16:75411853-75567059)x3	CFDP1, CHST5 +2 more	Copy number gain	not provided	GUncertain significance
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 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	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 441933	GRCh37/hg19 16q23.1(chr16:74150909-77077326)x1	ADAT1, BCAR1 +22 more	Copy number loss	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 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	SLC7A6, SLC7A6OS +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 155122	GRCh38/hg38 16q23.1(chr16:75227456-75731127)x3	ADAT1, BCAR1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 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 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	ACSF3, ADAD2 +832 more	Copy number gain	See cases	GPathogenic
Select item 150246	GRCh38/hg38 16q23.1(chr16:74811982-75698467)x3	ADAT1, BCAR1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	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 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	ADAMTS18, ADAT1 +360 more	Copy number loss	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 55