MREG[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 150323	GRCh38/hg38 2q35(chr2:215908412-216680325)x3	IGFBP2, IGFBP5 +40 more	Copy number gain	See cases	GLikely benign
Select item 2533554	NM_018000.3(MREG):c.563G>A (p.Arg188Gln)	MREG (R238Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466811	NM_018000.3(MREG):c.546C>G (p.Phe182Leu)	MREG (F182L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276845	NM_018000.3(MREG):c.514C>T (p.Arg172Cys)	MREG (R222C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508538	NM_018000.3(MREG):c.493A>G (p.Arg165Gly)	MREG (R165G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544863	NM_018000.3(MREG):c.419G>A (p.Arg140Lys)	MREG (R86K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595333	NM_018000.3(MREG):c.416C>A (p.Thr139Lys)	MREG (T189K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204155	NM_018000.3(MREG):c.371T>C (p.Leu124Ser)	MREG (L70S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299497	NM_018000.3(MREG):c.314G>C (p.Arg105Thr)	MREG (R51T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204148	NM_018000.3(MREG):c.293G>A (p.Arg98Gln)	MREG (R98Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204145	NM_018000.3(MREG):c.245A>G (p.Lys82Arg)	MREG (K28R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212859	NM_018000.3(MREG):c.229C>T (p.Arg77Cys)	MREG (R23C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295837	NM_018000.3(MREG):c.223G>A (p.Val75Ile)	MREG (V21I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591292	NM_018000.3(MREG):c.212A>G (p.Tyr71Cys)	MREG (Y71C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204137	NM_018000.3(MREG):c.209T>C (p.Leu70Pro)	MREG (L16P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375007	NM_018000.3(MREG):c.184A>G (p.Thr62Ala)	MREG (T62A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472033	NM_018000.3(MREG):c.31T>C (p.Cys11Arg)	MREG (C11R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
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 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1340964	GRCh37/hg19 2q35(chr2:216802244-217200292)x3	MARCHF4, MREG +3 more	Copy number gain	not provided	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	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 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 221795	GRCh37/hg19 2q35(chr2:216629374-217251859)x3	XRCC5, PECR +3 more	Copy number gain	Premature ovarian failure	GUncertain significance

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Items: 37