ARMT1[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 59801	GRCh38/hg38 6q25.1(chr6:151369093-151518210)x3	ARMT1, CCDC170 +10 more	Copy number gain	See cases	GBenign
Select item 2558252	NM_024573.3(ARMT1):c.175A>G (p.Ile59Val)	ARMT1 (I59V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2402421	NM_024573.3(ARMT1):c.225T>A (p.Phe75Leu)	ARMT1 (F75L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2299918	NM_024573.3(ARMT1):c.256G>A (p.Asp86Asn)	ARMT1 (D86N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2602831	NM_024573.3(ARMT1):c.259A>G (p.Ile87Val)	ARMT1 (I87V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3129726	NM_024573.3(ARMT1):c.304A>C (p.Ser102Arg)	ARMT1 (S102R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2242571	NM_024573.3(ARMT1):c.335C>T (p.Pro112Leu)	ARMT1 (P112L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3129728	NM_024573.3(ARMT1):c.339G>T (p.Trp113Cys)	ARMT1 (W113C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2216504	NM_024573.3(ARMT1):c.373C>A (p.His125Asn)	ARMT1 (H6N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288966	NM_024573.3(ARMT1):c.418T>C (p.Phe140Leu)	ARMT1 (F21L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129729	NM_024573.3(ARMT1):c.602G>A (p.Gly201Glu)	ARMT1 (G201E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129730	NM_024573.3(ARMT1):c.781A>G (p.Thr261Ala)	ARMT1 (T261A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352697	NM_024573.3(ARMT1):c.853A>G (p.Ile285Val)	ARMT1 (I166V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129731	NM_024573.3(ARMT1):c.877A>G (p.Thr293Ala)	ARMT1 (T174A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462108	NM_024573.3(ARMT1):c.880A>G (p.Ile294Val)	ARMT1 (I175V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301060	NM_024573.3(ARMT1):c.918C>A (p.His306Gln)	ARMT1 (H187Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521984	NM_024573.3(ARMT1):c.936G>A (p.Met312Ile)	ARMT1 (M193I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539413	NM_024573.3(ARMT1):c.988T>A (p.Tyr330Asn)	ARMT1 (Y211N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129723	NM_024573.3(ARMT1):c.1019A>G (p.His340Arg)	ARMT1 (H221R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619904	NM_024573.3(ARMT1):c.1021G>A (p.Glu341Lys)	ARMT1 (E222K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129724	NM_024573.3(ARMT1):c.1023G>T (p.Glu341Asp)	ARMT1 (E341D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277552	NM_024573.3(ARMT1):c.1031C>G (p.Ala344Gly)	ARMT1 (A225G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412249	NM_024573.3(ARMT1):c.1033A>G (p.Met345Val)	ARMT1 (M345V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354636	NM_024573.3(ARMT1):c.1057T>C (p.Tyr353His)	ARMT1 (Y234H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404629	NM_024573.3(ARMT1):c.1084A>G (p.Ile362Val)	ARMT1 (I243V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558049	NM_024573.3(ARMT1):c.1094A>G (p.Lys365Arg)	ARMT1 (K365R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129725	NM_024573.3(ARMT1):c.1282A>G (p.Thr428Ala)	ARMT1 (T428A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 979577	GRCh37/hg19 6q25.1-25.2(chr6:151472860-154839846)x3	MTRF1L, AKAP12 +14 more	Copy number gain	not provided	GLikely pathogenic
Select item 814879	GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1	AKAP12, ARMT1 +31 more	Copy number loss	not provided	GPathogenic
Select item 810049	GRCh37/hg19 6q25.1(chr6:151742378-151869624)x1	CCDC170, RMND1 +1 more	Copy number loss	not provided	GLikely pathogenic
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 563241	GRCh37/hg19 6q25.1(chr6:151757959-151904507)x1	RMND1, CCDC170 +1 more	Copy number loss	not provided	GUncertain significance
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 394905	GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1	ADGB, AKAP12 +42 more	Copy number loss	See cases	GPathogenic

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Items: 45