HNMT[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 146815	GRCh38/hg38 2q21.3-22.2(chr2:136045480-142845159)x3	CXCR4, HNMT +46 more	Copy number gain	See cases	GPathogenic
Select item 152865	GRCh38/hg38 2q22.1(chr2:136863073-138263550)x3	HNMT, LINC01832 +4 more	Copy number gain	See cases	GLikely benign
Select item 148432	GRCh38/hg38 2q22.1-22.3(chr2:136937358-146681810)x1	ARHGAP15, ARHGAP15-AS1 +75 more	Copy number loss	See cases	GPathogenic
Select item 58904	GRCh38/hg38 2q22.1(chr2:136937358-138263550)x3	HNMT, LINC01832 +4 more	Copy number gain	See cases	GUncertain significance
Select item 155647	GRCh38/hg38 2q22.1(chr2:137433939-138535492)x3	HNMT, LINC01832 +12 more	Copy number gain	See cases	GLikely benign
Select item 2692434	NM_006895.3(HNMT):c.3G>A (p.Met1Ile)	HNMT (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 722039	NM_006895.3(HNMT):c.45T>C (p.Tyr15=)	HNMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2225354	NM_006895.3(HNMT):c.125G>A (p.Gly42Asp)	HNMT (G42D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718989	NM_006895.3(HNMT):c.137+5C>A	HNMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2502178	NM_006895.3(HNMT):c.137+2287G>A	HNMT	Single nucleotide variant (intron variant)	Inherited susceptibility to asthma +1 more	GUncertain significance
Select item 2692433	NM_006895.3(HNMT):c.143G>C (p.Gly48Ala)	HNMT (G48A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 751982	NM_006895.3(HNMT):c.144A>T (p.Gly48=)	HNMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2369809	NM_006895.3(HNMT):c.149C>T (p.Thr50Ile)	HNMT (T50I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 219125	NM_006895.3(HNMT):c.179G>A (p.Gly60Asp)	HNMT (G60D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 51	GPathogenic
Select item 744659	NM_006895.3(HNMT):c.180C>T (p.Gly60=)	HNMT	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3106367	NM_006895.3(HNMT):c.185G>A (p.Gly62Asp)	HNMT (G62D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1335402	NM_006895.3(HNMT):c.190+11042G>A	HNMT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2620229	NM_006895.3(HNMT):c.235C>T (p.Pro79Ser)	HNMT (P79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234771	NM_006895.3(HNMT):c.276T>C (p.Ala92=)	HNMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3106368	NM_006895.3(HNMT):c.312G>T (p.Lys104Asn)	HNMT (K104N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 5160	NM_006895.3(HNMT):c.314C>T (p.Thr105Ile)	HNMT (T105I)	Single nucleotide variant (missense variant)	HNMT-related disorder +1 more	GBenign; risk factor
Select item 1032500	NM_006895.3(HNMT):c.317C>T (p.Ser106Leu)	HNMT (S106L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 51	GUncertain significance
Select item 721467	NM_006895.3(HNMT):c.325G>A (p.Glu109Lys)	HNMT (E109K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 51 +1 more	GConflicting classifications of pathogenicity
Select item 3106369	NM_006895.3(HNMT):c.331G>A (p.Val111Ile)	HNMT (V111I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591084	NM_006895.3(HNMT):c.341C>T (p.Ala114Val)	HNMT (A114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720763	NM_006895.3(HNMT):c.354G>A (p.Glu118=)	HNMT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3106371	NM_006895.3(HNMT):c.356C>G (p.Thr119Arg)	HNMT (T119R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557533	NM_006895.3(HNMT):c.454C>T (p.Pro152Ser)	HNMT (P152S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750363	NM_006895.3(HNMT):c.456A>G (p.Pro152=)	HNMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 445774	NM_006895.3(HNMT):c.475del (p.His159fs)	HNMT (H159fs)	Deletion (frameshift variant)	Inherited susceptibility to asthma +3 more	GConflicting classifications of pathogenicity
Select item 2473186	NM_006895.3(HNMT):c.475C>T (p.His159Tyr)	HNMT (H159Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2432492	NM_006895.3(HNMT):c.534C>T (p.Gly178=)	HNMT	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 51	GUncertain significance
Select item 3106372	NM_006895.3(HNMT):c.539A>G (p.Asp180Gly)	HNMT (D180G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729712	NM_006895.3(HNMT):c.558C>T (p.Tyr186=)	HNMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745364	NM_006895.3(HNMT):c.567C>T (p.Arg189=)	HNMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3038800	NM_006895.3(HNMT):c.594T>C (p.Tyr198=)	HNMT	Single nucleotide variant (synonymous variant)	HNMT-related disorder	GLikely benign
Select item 2651383	NM_006895.3(HNMT):c.600A>G (p.Thr200=)	HNMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 219126	NM_006895.3(HNMT):c.623T>C (p.Leu208Pro)	HNMT (L208P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 51	GLikely pathogenic
Select item 3284537	NM_006895.3(HNMT):c.628A>C (p.Asn210His)	HNMT (N210H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714038	NM_006895.3(HNMT):c.750T>C (p.Phe250=)	HNMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617610	NM_006895.3(HNMT):c.821A>G (p.Lys274Arg)	HNMT (K274R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519794	NM_006895.3(HNMT):c.851C>T (p.Thr284Ile)	HNMT (T284I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036881	NM_006895.3(HNMT):c.863T>C (p.Ile288Thr)	HNMT (I288T)	Single nucleotide variant (missense variant)	HNMT-related disorder	GLikely benign
Select item 742498	NM_006895.3(HNMT):c.876A>T (p.Ala292=)	HNMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3251876	NC_000002.11:g.(?_138722042)_(138722199_138727734)del	HNMT	Deletion	HNMT-Related Disorders	GPathogenic
Select item 3062608	GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3	ACMSD, ACVR2A +26 more	Copy number gain	not specified	GLikely pathogenic
Select item 2664508	GRCh37/hg19 2q22.1(chr2:138458639-141918297)x1	HNMT, LRP1B +2 more	Copy number loss	Syndromic craniosynostosis	GLikely pathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526903	GRCh37/hg19 2q22.1-22.3(chr2:138578298-144874187)	ARHGAP15, GTDC1 +5 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 1047890	GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396)	ACVR2A, ARHGAP15 +28 more	Copy number gain	Global developmental delay +2 more	GPathogenic
Select item 980591	GRCh37/hg19 2q22.1(chr2:138195293-139244847)x3	THSD7B, HNMT	Copy number gain	not provided	GUncertain significance
Select item 974580	Single allele	ZEB2, HNMT +7 more	Deletion	Mowat-Wilson syndrome	GPathogenic
Select item 814309	GRCh37/hg19 2q22.1(chr2:137610034-139037982)x3	HNMT, THSD7B	Copy number gain	not provided	GUncertain significance
Select item 687455	GRCh37/hg19 2q22.1(chr2:138673890-138792148)x3	HNMT	Copy number gain	not provided	GUncertain significance
Select item 687141	GRCh37/hg19 2q22.1(chr2:138319338-138787042)x3	HNMT, THSD7B	Copy number gain	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic

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Items: 64