ClinVar for Gene (Select 26122) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275810	NM_015630.4(EPC2):c.2137T>C (p.Cys713Arg)	EPC2 (C713R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275808	NM_015630.4(EPC2):c.1021C>T (p.Pro341Ser)	EPC2 (P341S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275807	NM_015630.4(EPC2):c.2027A>G (p.Lys676Arg)	EPC2 (K676R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275806	NM_015630.4(EPC2):c.2132C>T (p.Ala711Val)	EPC2 (A711V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275805	NM_015630.4(EPC2):c.263G>A (p.Arg88His)	EPC2 (R88H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275804	NM_015630.4(EPC2):c.500A>G (p.Asp167Gly)	EPC2 (D167G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275803	NM_015630.4(EPC2):c.2036A>G (p.Tyr679Cys)	EPC2 (Y679C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275802	NM_015630.4(EPC2):c.545G>A (p.Arg182His)	EPC2 (R182H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275801	NM_015630.4(EPC2):c.839G>A (p.Gly280Asp)	EPC2 (G280D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089471	NM_015630.4(EPC2):c.600T>G (p.Asp200Glu)	EPC2 (D200E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089470	NM_015630.4(EPC2):c.37G>A (p.Ala13Thr)	EPC2 (A13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089469	NM_015630.4(EPC2):c.2399C>A (p.Thr800Lys)	EPC2 (T800K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089468	NM_015630.4(EPC2):c.2335A>G (p.Ile779Val)	EPC2 (I779V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089467	NM_015630.4(EPC2):c.2080G>T (p.Val694Leu)	EPC2 (V694L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089466	NM_015630.4(EPC2):c.2020A>C (p.Thr674Pro)	EPC2 (T674P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089465	NM_015630.4(EPC2):c.1662T>A (p.Asn554Lys)	EPC2 (N554K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089464	NM_015630.4(EPC2):c.1391G>T (p.Arg464Leu)	EPC2 (R464L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2684742	GRCh37/hg19 2q22.3-23.3(chr2:148406827-152954124)x1	ACVR2A, ARL5A +13 more	Copy number loss	not provided	GPathogenic
Select item 2556065	NM_015630.4(EPC2):c.1088G>A (p.Ser363Asn)	EPC2 (S363N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531967	NM_015630.4(EPC2):c.1900G>A (p.Ala634Thr)	EPC2 (A634T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506556	GRCh37/hg19 2q23.1(chr2:149220152-149633312)	EPC2, MBD5	Copy number gain	Intellectual disability, autosomal dominant 1	GLikely pathogenic
Select item 2490853	NM_015630.4(EPC2):c.535G>A (p.Val179Met)	EPC2 (V179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477233	NM_015630.4(EPC2):c.568C>T (p.Leu190Phe)	EPC2 (L190F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398979	NM_015630.4(EPC2):c.1046C>G (p.Ser349Cys)	EPC2 (S349C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396256	NM_015630.4(EPC2):c.320A>G (p.Asn107Ser)	EPC2 (N107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335820	NM_015630.4(EPC2):c.427A>G (p.Ile143Val)	EPC2 (I143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329946	NM_015630.4(EPC2):c.1226A>G (p.Tyr409Cys)	EPC2 (Y409C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329409	NM_015630.4(EPC2):c.14C>T (p.Ser5Phe)	EPC2 (S5F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320706	NM_015630.4(EPC2):c.55A>G (p.Ile19Val)	EPC2 (I19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310380	NM_015630.4(EPC2):c.1082A>G (p.Asn361Ser)	EPC2 (N361S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304016	NM_015630.4(EPC2):c.371T>C (p.Leu124Ser)	EPC2 (L124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297437	NM_015630.4(EPC2):c.158A>G (p.His53Arg)	EPC2 (H53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285712	NM_015630.4(EPC2):c.328A>G (p.Asn110Asp)	EPC2 (N110D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238444	NM_015630.4(EPC2):c.1602T>G (p.Asn534Lys)	EPC2 (N534K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216309	NM_015630.4(EPC2):c.1282T>G (p.Leu428Val)	EPC2 (L428V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209626	NM_015630.4(EPC2):c.1973A>G (p.Gln658Arg)	EPC2 (Q658R)	Single nucleotide variant (missense variant)	not specified	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 1526920	GRCh37/hg19 2q23.1-23.2(chr2:149218583-149933863)	EPC2, LYPD6B +1 more	Copy number gain	not specified	GUncertain significance
Select item 1526918	GRCh37/hg19 2q23.1(chr2:149123669-149665709)	EPC2, MBD5	Copy number gain	not specified	GUncertain significance
Select item 1526917	GRCh37/hg19 2q23.1-23.3(chr2:148954840-150800195)	EPC2, LYPD6 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1526908	GRCh37/hg19 2q22.3-23.1(chr2:146803587-149568729)	ACVR2A, EPC2 +2 more	Copy number loss	not specified	GPathogenic
Select item 1526906	GRCh37/hg19 2q22.2-23.3(chr2:143258712-152867819)	ACVR2A, ARHGAP15 +17 more	Copy number loss	not specified	GPathogenic
Select item 1341063	GRCh37/hg19 2q22.2-23.3(chr2:142409401-152680804)x3	ACVR2A, ARHGAP15 +17 more	Copy number gain	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 814314	GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1	ARL6IP6, CACNB4 +25 more	Copy number loss	not provided	GPathogenic
Select item 783986	NM_015630.4(EPC2):c.666+9C>T	EPC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 783121	NM_015630.4(EPC2):c.759A>G (p.Arg253=)	EPC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783120	NM_015630.4(EPC2):c.18C>T (p.Phe6=)	EPC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734885	NM_015630.4(EPC2):c.1833G>A (p.Ser611=)	EPC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711196	NM_015630.4(EPC2):c.1833G>T (p.Ser611=)	EPC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 562615	GRCh37/hg19 2q23.1(chr2:148704099-149545055)x3	MBD5, ORC4 +1 more	Copy number gain	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 442694	GRCh37/hg19 2q22.3-23.3(chr2:146913477-151531586)x1	ACVR2A, EPC2 +6 more	Copy number loss	See cases	GPathogenic
Select item 441801	GRCh37/hg19 2q23.1(chr2:149209178-149434757)x3	EPC2, MBD5	Copy number gain	See cases	GUncertain significance
Select item 417821	Single allele	ACVR2A, EPC2 +2 more	Duplication	MBD5 associated neurodevelopmental disorder	GPathogenic
Select item 403692	Single allele	ORC4, KIF5C +3 more	Duplication	MBD5 associated neurodevelopmental disorder	GPathogenic
Select item 403691	Single allele	GTDC1, KYNU +7 more	Duplication	MBD5 associated neurodevelopmental disorder	GPathogenic
Select item 395440	GRCh37/hg19 2q23.1-23.3(chr2:148842506-152370040)x1	EPC2, LYPD6 +9 more	Copy number loss	See cases	GPathogenic
Select item 183383	NC_000002.10:g.148447496_149377297del	LOC129934890, LOC129934891 +15 more	Deletion	Intellectual disability, autosomal dominant 1	GPathogenic
Select item 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 152517	GRCh38/hg38 2q22.3-23.2(chr2:145471053-149582570)x1	ACVR2A, EPC2 +54 more	Copy number loss	See cases	GPathogenic
Select item 150817	GRCh38/hg38 2q23.1-23.2(chr2:148440874-149091788)x1	EPC2, KIF5C +21 more	Copy number loss	See cases	GPathogenic
Select item 148618	GRCh38/hg38 2q23.1(chr2:148440874-148677035)x3	EPC2, LOC129934889 +7 more	Copy number gain	See cases	GUncertain significance
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 146065	GRCh38/hg38 2q22.3-23.2(chr2:147473194-149279840)x3	ACVR2A, EPC2 +32 more	Copy number gain	See cases	GUncertain significance
Select item 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	ACVR2A, ARL5A +119 more	Copy number loss	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

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Links from Gene

Items: 70