ClinVar for Gene (Select 23743) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3480593	NM_017614.5(BHMT2):c.347C>A (p.Thr116Lys)	BHMT2 (T116K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3480592	NM_017614.5(BHMT2):c.369G>T (p.Lys123Asn)	BHMT2 (K123N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3480590	NM_017614.5(BHMT2):c.1024T>C (p.Tyr342His)	BHMT2 (Y278H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3480589	NM_017614.5(BHMT2):c.941C>T (p.Pro314Leu)	BHMT2 (P250L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3480588	NM_017614.5(BHMT2):c.437T>C (p.Phe146Ser)	BHMT2 (F146S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3480587	NM_017614.5(BHMT2):c.46C>T (p.Arg16Cys)	BHMT2 (R16C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3480586	NM_017614.5(BHMT2):c.1070C>T (p.Ser357Leu)	BHMT2 (S293L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3480585	NM_017614.5(BHMT2):c.395T>C (p.Phe132Ser)	BHMT2 (F132S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3392037	GRCh37/hg19 5q14.1(chr5:78013584-78525460)x3	ARSB, BHMT +2 more	Copy number gain	not provided	GUncertain significance
Select item 3391887	GRCh37/hg19 5q13.3-14.1(chr5:73744566-79011619)x1	AGGF1, ANKDD1B +35 more	Copy number loss	not provided	GPathogenic
Select item 3260873	NM_017614.5(BHMT2):c.464T>A (p.Val155Asp)	BHMT2 (V155D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260872	NM_017614.5(BHMT2):c.835G>A (p.Ala279Thr)	BHMT2 (A215T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260871	NM_017614.5(BHMT2):c.292G>A (p.Ala98Thr)	BHMT2 (A98T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133837	NM_017614.5(BHMT2):c.842A>G (p.Asn281Ser)	BHMT2 (N217S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133835	NM_017614.5(BHMT2):c.568G>A (p.Gly190Arg)	BHMT2 (G126R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133834	NM_017614.5(BHMT2):c.52G>A (p.Glu18Lys)	BHMT2 (E18K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133833	NM_017614.5(BHMT2):c.506A>G (p.Asp169Gly)	BHMT2 (D105G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3133832	NM_017614.5(BHMT2):c.476T>C (p.Val159Ala)	BHMT2 (V95A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133831	NM_017614.5(BHMT2):c.39T>G (p.Ile13Met)	BHMT2 (I13M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133830	NM_017614.5(BHMT2):c.176T>G (p.Leu59Arg)	BHMT2 (L59R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133829	NM_017614.5(BHMT2):c.169C>T (p.Arg57Cys)	BHMT2 (R57C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133828	NM_017614.5(BHMT2):c.149T>C (p.Ile50Thr)	BHMT2 (I50T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622485	NM_017614.5(BHMT2):c.20C>T (p.Pro7Leu)	BHMT2 (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594394	NM_017614.5(BHMT2):c.547G>C (p.Asp183His)	BHMT2 (D183H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532304	NM_017614.5(BHMT2):c.794G>T (p.Arg265Ile)	BHMT2 (R265I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525403	NM_017614.5(BHMT2):c.764T>A (p.Leu255His)	BHMT2 (L191H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487706	NM_017614.5(BHMT2):c.124G>C (p.Gly42Arg)	BHMT2 (G42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480982	NM_017614.5(BHMT2):c.189C>G (p.Phe63Leu)	BHMT2 (F63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469976	NM_017614.5(BHMT2):c.1057C>A (p.Pro353Thr)	BHMT2 (P353T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408022	NM_017614.5(BHMT2):c.806G>C (p.Arg269Thr)	BHMT2 (R205T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402889	NM_017614.5(BHMT2):c.731C>T (p.Ala244Val)	BHMT2 (A180V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393330	NM_017614.5(BHMT2):c.47G>A (p.Arg16His)	BHMT2 (R16H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388866	NM_017614.5(BHMT2):c.332G>T (p.Gly111Val)	BHMT2 (G111V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368729	NM_017614.5(BHMT2):c.626G>A (p.Arg209His)	BHMT2 (R145H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344286	NM_017614.5(BHMT2):c.968G>A (p.Gly323Glu)	BHMT2 (G323E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331252	NM_017614.5(BHMT2):c.362A>G (p.Tyr121Cys)	BHMT2 (Y121C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301920	NM_017614.5(BHMT2):c.830G>A (p.Arg277Lys)	BHMT2 (R277K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274490	NM_017614.5(BHMT2):c.377C>G (p.Ala126Gly)	BHMT2 (A126G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237850	NM_017614.5(BHMT2):c.665T>C (p.Met222Thr)	BHMT2 (M158T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227293	NM_017614.5(BHMT2):c.527T>C (p.Met176Thr)	BHMT2 (M176T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223942	NM_017614.5(BHMT2):c.698C>T (p.Ala233Val)	BHMT2 (A169V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809020	GRCh37/hg19 5q14.1(chr5:77746948-79089197)x1	ARSB, BHMT +8 more	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 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 774305	NM_017614.5(BHMT2):c.197C>T (p.Ala66Val)	BHMT2 (A66V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 732484	NM_017614.5(BHMT2):c.174A>G (p.Gln58=)	BHMT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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
Select item 395537	GRCh37/hg19 5q14.1(chr5:78375165-78384384)x3	BHMT2	Copy number gain	See cases	GLikely benign
Select item 152418	GRCh38/hg38 5q14.1(chr5:79028408-79195058)x3	BHMT, BHMT2 +1 more	Copy number gain	See cases	GLikely benign
Select item 149681	GRCh38/hg38 5q14.1(chr5:78804361-79620179)x3	ARSB, BHMT +21 more	Copy number gain	See cases	GUncertain significance
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	GLRX, GPR150 +692 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 63