ClinVar for Gene (Select 92154) - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065298	NM_138383.3(MTSS2):c.560G>A (p.Arg187His)	MTSS2 (R187H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with ocular anomalies and distinctive facial features	GUncertain significance
Select item 3063978	NM_138383.3(MTSS2):c.2018G>C (p.Ser673Thr)	MTSS2 (S673T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2691326	NM_138383.3(MTSS2):c.1129-16C>A	MTSS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2685575	GRCh37/hg19 16q22.1-22.3(chr16:69709450-73535741)x1	AARS1, AP1G1 +40 more	Copy number loss	not provided	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 2684811	GRCh37/hg19 16q22.1-22.2(chr16:70179556-71750471)x3	AARS1, CALB2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 2662774	NM_138383.3(MTSS2):c.536A>G (p.Glu179Gly)	MTSS2 (E179G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646685	NM_138383.3(MTSS2):c.-182C>T	MTSS2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2617621	NM_138383.3(MTSS2):c.1390C>G (p.Arg464Gly)	MTSS2 (R464G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607936	NM_138383.3(MTSS2):c.19G>A (p.Glu7Lys)	MTSS2 (E7K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601502	NM_138383.3(MTSS2):c.1271G>A (p.Arg424Gln)	MTSS2 (R424Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594482	NM_138383.3(MTSS2):c.1889T>G (p.Leu630Arg)	MTSS2 (L630R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588144	NM_138383.3(MTSS2):c.708C>A (p.His236Gln)	MTSS2 (H236Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580838	NM_138383.3(MTSS2):c.1574A>C (p.Gln525Pro)	MTSS2 (Q525P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580836	NM_138383.3(MTSS2):c.1073C>T (p.Ser358Phe)	MTSS2 (S358F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580834	NM_138383.3(MTSS2):c.235A>G (p.Thr79Ala)	MTSS2 (T79A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573344	NM_138383.3(MTSS2):c.291-8C>T	MTSS2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2570215	NM_138383.3(MTSS2):c.869C>A (p.Ala290Asp)	MTSS2 (A290D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568506	NM_138383.3(MTSS2):c.1375C>G (p.His459Asp)	MTSS2 (H459D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554300	NM_138383.3(MTSS2):c.1526C>T (p.Pro509Leu)	MTSS2 (P509L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533650	NM_138383.3(MTSS2):c.1738A>G (p.Ser580Gly)	MTSS2 (S580G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529769	NM_138383.3(MTSS2):c.2156C>G (p.Pro719Arg)	MTSS2 (P719R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518894	NM_138383.3(MTSS2):c.956G>A (p.Arg319His)	MTSS2 (R319H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512482	NM_138383.3(MTSS2):c.1144G>C (p.Gly382Arg)	MTSS2 (G382R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508929	NM_138383.3(MTSS2):c.922C>T (p.Arg308Cys)	MTSS2 (R308C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506995	NM_138383.3(MTSS2):c.1858G>A (p.Asp620Asn)	MTSS2 (D620N)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with ocular anomalies and distinctive facial features	GUncertain significance
Select item 2490484	NM_138383.3(MTSS2):c.925A>G (p.Ser309Gly)	MTSS2 (S309G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488529	NM_138383.3(MTSS2):c.2122C>T (p.Pro708Ser)	MTSS2 (P708S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470785	NM_138383.3(MTSS2):c.807C>G (p.Ser269Arg)	MTSS2 (S269R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464028	NM_138383.3(MTSS2):c.1795C>T (p.Pro599Ser)	MTSS2 (P599S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457759	NM_138383.3(MTSS2):c.609C>A (p.Phe203Leu)	MTSS2 (F203L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455119	NM_138383.3(MTSS2):c.2169G>A (p.Met723Ile)	MTSS2 (M723I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426425	NC_000016.9:g.(?_70497094)_(70834803_?)dup	COG4, FCSK +4 more	Duplication	not provided	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	AARS1, ACD +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1706519	GRCh37/hg19 16q22.1-23.1(chr16:68971067-74823560)x1	TXNL4B, UTP4 +59 more	Copy number loss	See cases	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 1526516	GRCh37/hg19 16q22.1-22.2(chr16:70273406-70960990)	HYDIN, IL34 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1441673	NC_000016.9:g.(?_69680960)_(72146396_?)dup	AARS1, AP1G1 +37 more	Duplication	Immunodeficiency	GUncertain significance
Select item 1340701	GRCh37/hg19 16q22.1-22.2(chr16:70272361-70983737)x1	AARS1, COG4 +10 more	Copy number loss	not provided	GUncertain significance
Select item 1288286	NM_138383.3(MTSS2):c.756G>A (p.Ser252=)	MTSS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 977756	NM_138383.3(MTSS2):c.2011C>T (p.Arg671Trp)	MTSS2 (R671W)	Single nucleotide variant (missense variant)	MTSS2-related neurodevelopmental disorder +2 more	GLikely pathogenic
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 727688	NM_138383.3(MTSS2):c.2136A>C (p.Pro712=)	MTSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 687301	GRCh37/hg19 16q22.1-22.2(chr16:70467293-71560136)x3	CALB2, CHST4 +11 more	Copy number gain	not provided	GUncertain significance
Select item 686715	GRCh37/hg19 16q22.1(chr16:70393149-70798654)x3	COG4, DDX19A +6 more	Copy number gain	not provided	GUncertain significance
Select item 685008	GRCh37/hg19 16q22.1-22.2(chr16:70277618-70917102)x4	AARS1, COG4 +10 more	Copy number gain	not provided	GUncertain significance
Select item 564338	GRCh37/hg19 16q22.1-22.2(chr16:70646969-72849701)x1	CMTR2, IST1 +22 more	Copy number loss	not provided	GLikely pathogenic
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 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 183351	NM_138383.3(MTSS2):c.1790C>T (p.Thr597Met)	MTSS2 (T597M)	Single nucleotide variant (missense variant)	Global developmental delay +4 more	GLikely pathogenic
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 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 148810	GRCh38/hg38 16q22.1-22.2(chr16:69918076-71541872)x3	AARS1, CALB2 +84 more	Copy number gain	See cases	GUncertain significance
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	LOC128772417, LOC128772418 +939 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	LOC100129617, LOC100506281 +591 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 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 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	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

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Links from Gene

Items: 73