MAT2B[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 1707452	Single allele	ADRA1B, ATP10B +111 more	Duplication	not specified	GUncertain significance
Select item 149967	GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)x1	GABRA1, GABRA6 +108 more	Copy number loss	See cases	GPathogenic
Select item 58393	GRCh38/hg38 5q34(chr5:161909955-164086917)x1	CCNG1, GABRG2 +17 more	Copy number loss	See cases	GPathogenic
Select item 2472983	NM_013283.5(MAT2B):c.161A>T (p.His54Leu)	MAT2B (H54L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123895	NM_013283.5(MAT2B):c.163G>A (p.Ala55Thr)	MAT2B (A55T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399055	NM_013283.5(MAT2B):c.166G>T (p.Val56Phe)	MAT2B (V45F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304601	NM_013283.5(MAT2B):c.174T>G (p.Cys58Trp)	MAT2B (C47W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515278	NM_013283.5(MAT2B):c.268A>G (p.Ile90Val)	MAT2B (I90V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233353	NM_013283.5(MAT2B):c.482A>G (p.Lys161Arg)	MAT2B (K150R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463573	NM_013283.5(MAT2B):c.551T>C (p.Ile184Thr)	MAT2B (I184T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123896	NM_013283.5(MAT2B):c.586G>C (p.Ala196Pro)	MAT2B (A185P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332945	NM_013283.5(MAT2B):c.751T>G (p.Ser251Ala)	MAT2B (S240A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343984	NM_013283.5(MAT2B):c.758A>G (p.Asn253Ser)	MAT2B (N253S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123898	NM_013283.5(MAT2B):c.795T>G (p.Ile265Met)	MAT2B (I265M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717327	NM_013283.5(MAT2B):c.905C>T (p.Thr302Ile)	MAT2B (T302I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2363329	NM_013283.5(MAT2B):c.935G>A (p.Arg312Gln)	MAT2B (R312Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361520	NM_013283.5(MAT2B):c.971T>C (p.Ile324Thr)	MAT2B (I313T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	PTTG1, UBLCP1 +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 929325	GRCh37/hg19 5q34(chr5:161880996-162958461)x3	CCNG1, HMMR +2 more	Copy number gain	See cases	GUncertain significance
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 686758	GRCh37/hg19 5q34(chr5:162636748-163072415)x1	CCNG1, HMMR +2 more	Copy number loss	not provided	GUncertain significance
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 563120	GRCh37/hg19 5q34(chr5:161650030-164111161)x3	HMMR, MAT2B +2 more	Copy number gain	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic

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Items: 35