1047[HGNC] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 149681	GRCh38/hg38 5q14.1(chr5:78804361-79620179)x3	ARSB, BHMT +21 more	Copy number gain	See cases	GUncertain significance
Select item 152418	GRCh38/hg38 5q14.1(chr5:79028408-79195058)x3	BHMT, BHMT2 +1 more	Copy number gain	See cases	GLikely benign
Select item 2528362	NM_001713.3(BHMT):c.19A>C (p.Lys7Gln)	BHMT (K7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621481	NM_001713.3(BHMT):c.112T>A (p.Tyr38Asn)	BHMT (Y38N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133824	NM_001713.3(BHMT):c.115G>A (p.Val39Ile)	BHMT (V39I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527605	NM_001713.3(BHMT):c.121G>C (p.Ala41Pro)	BHMT (A41P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236526	NM_001713.3(BHMT):c.160G>A (p.Glu54Lys)	BHMT (E54K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394965	NM_001713.3(BHMT):c.169C>T (p.Arg57Cys)	BHMT (R57C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588019	NM_001713.3(BHMT):c.170G>T (p.Arg57Leu)	BHMT (R57L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378491	NM_001713.3(BHMT):c.182G>A (p.Arg61Gln)	BHMT (R61Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256817	NM_001713.3(BHMT):c.184G>C (p.Glu62Gln)	BHMT (E62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246044	NM_001713.3(BHMT):c.212T>A (p.Met71Lys)	BHMT (M71K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711926	NM_001713.3(BHMT):c.222C>T (p.Phe74=)	BHMT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2395493	NM_001713.3(BHMT):c.352G>A (p.Val118Ile)	BHMT (V118I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260870	NM_001713.3(BHMT):c.397A>G (p.Ser133Gly)	BHMT (S133G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609424	NM_001713.3(BHMT):c.487C>T (p.His163Tyr)	BHMT (H163Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711927	NM_001713.3(BHMT):c.589C>T (p.Pro197Ser)	BHMT (P197S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 774306	NM_001713.3(BHMT):c.595G>A (p.Gly199Ser)	BHMT (G199S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2223865	NM_001713.3(BHMT):c.610C>T (p.Arg204Cys)	BHMT (R204C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221415	NM_001713.3(BHMT):c.616G>C (p.Val206Leu)	BHMT (V206L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538019	NM_001713.3(BHMT):c.628G>A (p.Ala210Thr)	BHMT (A210T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133826	NM_001713.3(BHMT):c.649T>G (p.Cys217Gly)	BHMT (C217G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133827	NM_001713.3(BHMT):c.700G>T (p.Gly234Cys)	BHMT (G234C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248630	NM_001713.3(BHMT):c.748G>T (p.Ala250Ser)	BHMT (A250S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036866	NM_001713.3(BHMT):c.767G>A (p.Cys256Tyr)	BHMT (C256Y)	Single nucleotide variant (missense variant)	BHMT-related disorder	GLikely benign
Select item 2454236	NM_001713.3(BHMT):c.809G>A (p.Gly270Glu)	BHMT (G270E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601905	NM_001713.3(BHMT):c.857G>A (p.Arg286Lys)	BHMT (R286K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392182	NM_001713.3(BHMT):c.887T>C (p.Ile296Thr)	BHMT (I296T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378368	NM_001713.3(BHMT):c.1141G>A (p.Glu381Lys)	BHMT (E381K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 208188	NM_001713.3(BHMT):c.1200del (p.Lys400fs)	BHMT (K400fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 1809020	GRCh37/hg19 5q14.1(chr5:77746948-79089197)x1	ARSB, BHMT +8 more	Copy number loss	not provided	GUncertain significance
Select item 1340714	GRCh37/hg19 5q14.1(chr5:78406853-78524612)x1	BHMT	Copy number loss	not provided	GUncertain significance
Select item 1340534	GRCh37/hg19 5q14.1(chr5:78364368-78591431)x3	BHMT, BHMT2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1340177	GRCh37/hg19 5q14.1(chr5:78196511-78445636)x1	ARSB, BHMT +2 more	Copy number loss	not provided	GUncertain significance
Select item 814699	GRCh37/hg19 5q14.1(chr5:78401788-78708407)x3	JMY, HOMER1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814698	GRCh37/hg19 5q14.1(chr5:78366704-78651243)x3	BHMT, BHMT2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814697	GRCh37/hg19 5q14.1(chr5:78366704-78689771)x3	JMY, BHMT +2 more	Copy number gain	not provided	GUncertain significance
Select item 814696	GRCh37/hg19 5q14.1(chr5:78094810-78936391)x3	DMGDH, HOMER1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 688924	GRCh37/hg19 5q14.1(chr5:78318239-78791047)x3	BHMT, BHMT2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686675	GRCh37/hg19 5q14.1(chr5:78229182-78844914)x3	ARSB, BHMT +4 more	Copy number gain	not provided	GUncertain significance
Select item 686449	GRCh37/hg19 5q14.1(chr5:78324437-78693659)x3	BHMT, BHMT2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686371	GRCh37/hg19 5q14.1(chr5:78323433-78693915)x3	BHMT, BHMT2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686174	GRCh37/hg19 5q14.1(chr5:78323433-78693915)x3	BHMT, BHMT2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	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

ClinVar

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Items: 49