ERMN[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 154597	GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1	ACVR1, ACVR1C +147 more	Copy number loss	See cases	GPathogenic
Select item 154896	GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1	LOC129934943, LOC129934944 +74 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 236378	Single allele	ACVR1C, LOC129934963 +61 more	Deletion	Autism spectrum disorder	GLikely pathogenic
Select item 2247678	NM_020711.3(ERMN):c.767C>A (p.Ser256Tyr)	ERMN (S269Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545318	NM_020711.3(ERMN):c.743G>A (p.Ser248Asn)	ERMN (S228N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511380	NM_020711.3(ERMN):c.611T>C (p.Ile204Thr)	ERMN (I217T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532970	NM_020711.3(ERMN):c.590A>G (p.Asp197Gly)	ERMN (D177G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090306	NM_020711.3(ERMN):c.577A>G (p.Asn193Asp)	ERMN (N173D +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394103	NM_020711.3(ERMN):c.572A>G (p.Asp191Gly)	ERMN (D191G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347551	NM_020711.3(ERMN):c.563A>G (p.Asp188Gly)	ERMN (D168G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507869	NM_020711.3(ERMN):c.506A>T (p.Asp169Val)	ERMN (D182V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590415	NM_020711.3(ERMN):c.452G>A (p.Gly151Asp)	ERMN (G151D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512210	NM_020711.3(ERMN):c.439A>G (p.Arg147Gly)	ERMN (R127G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090305	NM_020711.3(ERMN):c.430G>T (p.Asp144Tyr)	ERMN (D157Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478920	NM_020711.3(ERMN):c.429A>C (p.Glu143Asp)	ERMN (E143D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382171	NM_020711.3(ERMN):c.428A>C (p.Glu143Ala)	ERMN (E143A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274727	NM_020711.3(ERMN):c.368G>T (p.Ser123Ile)	ERMN (S123I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243715	NM_020711.3(ERMN):c.355C>T (p.Pro119Ser)	ERMN (P119S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276393	NM_020711.3(ERMN):c.341A>G (p.Gln114Arg)	ERMN (Q94R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359334	NM_020711.3(ERMN):c.328A>G (p.Arg110Gly)	ERMN (R123G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233992	NM_020711.3(ERMN):c.247C>T (p.Pro83Ser)	ERMN (P83S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2338352	NM_020711.3(ERMN):c.202A>G (p.Met68Val)	ERMN (M68V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783123	NM_020711.3(ERMN):c.154G>A (p.Ala52Thr)	ERMN (A52T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3276392	NM_020711.3(ERMN):c.74C>A (p.Thr25Lys)	ERMN (T25K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264974	NM_020711.3(ERMN):c.70C>G (p.Gln24Glu)	ERMN (Q37E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282978	NM_020711.3(ERMN):c.52C>T (p.Pro18Ser)	ERMN (P31S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471536	NM_020711.3(ERMN):c.32C>A (p.Ala11Asp)	ERMN (A24D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062503	GRCh37/hg19 2q24.1-24.3(chr2:157718631-165360287)x1	CCDC148, CD302 +29 more	Copy number loss	not specified	GPathogenic
Select item 2684819	GRCh37/hg19 2q24.1(chr2:158147122-158266377)x1	ERMN, GALNT5	Copy number loss	not provided	GUncertain significance
Select item 2684808	GRCh37/hg19 2q24.1(chr2:156828817-158377885)x1	CYTIP, ERMN +3 more	Copy number loss	not provided	GPathogenic
Select item 1807678	GRCh37/hg19 2q24.1(chr2:156528912-158233672)x3	ERMN, GALNT5 +2 more	Copy number gain	not provided	GUncertain significance
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 1340408	GRCh37/hg19 2q23.3-24.1(chr2:154852961-159126250)x1	ACVR1, ACVR1C +9 more	Copy number loss	not provided	GPathogenic
Select item 1340352	GRCh37/hg19 2q23.3-24.1(chr2:154328530-158759642)x1	ACVR1, ACVR1C +8 more	Copy number loss	not provided	GPathogenic
Select item 1339787	GRCh37/hg19 2q23.3-24.2(chr2:152967964-160089210)x3	ACVR1, ACVR1C +17 more	Copy number gain	not provided	Gnot provided
Select item 980600	GRCh37/hg19 2q24.1(chr2:156696086-159450561)x1	ACVR1C, GALNT5 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 816489	GRCh37/hg19 2q24.1(chr2:157873775-158514510)x3	CYTIP, ACVR1C +2 more	Copy number gain	See cases	GUncertain significance
Select item 814332	GRCh37/hg19 2q24.1(chr2:157117939-158422574)x1	GALNT5, CYTIP +4 more	Copy number loss	not provided	GLikely pathogenic
Select item 814314	GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1	ARL6IP6, CACNB4 +25 more	Copy number loss	not provided	GPathogenic
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 443473	GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1	ACVR1, ACVR1C +42 more	Copy number loss	See cases	GPathogenic
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 395610	GRCh37/hg19 2q24.1(chr2:158183948-158300390)x1	CYTIP, ERMN	Copy number loss	See cases	GLikely benign
Select item 395526	GRCh37/hg19 2q24.1(chr2:158165086-158183948)x3	ERMN, GALNT5	Copy number gain	See cases	GLikely benign
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic

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Items: 51