ClinVar for Gene (Select 131965) - ClinVar

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

Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294472	NM_152396.4(METTL6):c.443C>A (p.Pro148Gln)	METTL6 (P103Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3125608	NM_152396.4(METTL6):c.817C>T (p.Pro273Ser)	METTL6 (P228S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125607	NM_152396.4(METTL6):c.457G>A (p.Val153Ile)	METTL6 (V153I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2653596	NM_152396.4(METTL6):c.93T>C (p.Asp31=)	METTL6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2607841	NM_152396.4(METTL6):c.121G>C (p.Ala41Pro)	METTL6 (A41P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516211	NM_152396.4(METTL6):c.392A>T (p.Lys131Met)	METTL6 (K86M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466712	NM_152396.4(METTL6):c.389G>A (p.Cys130Tyr)	METTL6 (C85Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405558	NM_152396.4(METTL6):c.608G>C (p.Ser203Thr)	METTL6 (S203T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2398488	NM_152396.4(METTL6):c.563G>A (p.Arg188His)	METTL6 (R188H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2345528	NM_152396.4(METTL6):c.52G>A (p.Glu18Lys)	METTL6 (E18K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333663	NM_152396.4(METTL6):c.707A>G (p.Tyr236Cys)	METTL6 (Y191C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315715	NM_152396.4(METTL6):c.136G>C (p.Asp46His)	METTL6 (D46H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315029	NM_152396.4(METTL6):c.508C>T (p.Leu170Phe)	METTL6 (L125F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266011	NM_152396.4(METTL6):c.230A>G (p.Glu77Gly)	METTL6 (E77G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230446	NM_152396.4(METTL6):c.796T>C (p.Phe266Leu)	METTL6 (F266L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227518	NM_152396.4(METTL6):c.75C>A (p.Asp25Glu)	METTL6 (D25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1340851	GRCh37/hg19 3p25.1-24.3(chr3:15085863-16402392)x3	ANKRD28, BTD +13 more	Copy number gain	not provided	GUncertain significance
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 443469	GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)x1	ANKRD28, BTD +27 more	Copy number loss	See cases	GLikely pathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	GPathogenic
Select item 155336	GRCh38/hg38 3p25.1-24.3(chr3:15304910-16372771)x3	ANKRD28, BTD +43 more	Copy number gain	See cases	GLikely benign
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 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: 39