79137[Gene ID] - ClinVar

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Items: 70

	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	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 149033	GRCh38/hg38 2q35(chr2:219081620-219758878)x3	ABCB6, ANKZF1 +77 more	Copy number gain	See cases	GUncertain significance
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 3153155	NM_024293.6(RETREG2):c.79G>A (p.Gly27Ser)	RETREG2 (G27S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3313764	NM_024293.6(RETREG2):c.113A>G (p.Glu38Gly)	RETREG2 (E38G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3153142	NM_024293.6(RETREG2):c.146T>C (p.Val49Ala)	RETREG2 (V49A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3153144	NM_024293.6(RETREG2):c.185G>A (p.Gly62Asp)	RETREG2 (G62D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3153145	NM_024293.6(RETREG2):c.203C>T (p.Ala68Val)	RETREG2 (A68V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3153146	NM_024293.6(RETREG2):c.234G>T (p.Lys78Asn)	RETREG2 (K78N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3313763	NM_024293.6(RETREG2):c.262G>A (p.Ala88Thr)	RETREG2 (A88T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3153147	NM_024293.6(RETREG2):c.274C>G (p.Leu92Val)	RETREG2 (L92V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3153148	NM_024293.6(RETREG2):c.341A>G (p.Tyr114Cys)	RETREG2 (Y114C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3153149	NM_024293.6(RETREG2):c.442C>T (p.Arg148Trp)	RETREG2 (R148W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3153150	NM_024293.6(RETREG2):c.460G>A (p.Val154Met)	RETREG2 (V154M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3153151	NM_024293.6(RETREG2):c.547C>G (p.Pro183Ala)	RETREG2 (P183A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3313758	NM_024293.6(RETREG2):c.605A>T (p.His202Leu)	RETREG2 (H202L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3153152	NM_024293.6(RETREG2):c.698A>C (p.Tyr233Ser)	RETREG2 (Y26S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153153	NM_024293.6(RETREG2):c.703C>T (p.Arg235Cys)	RETREG2 (R28C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153154	NM_024293.6(RETREG2):c.704G>A (p.Arg235His)	RETREG2 (R235H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530429	NM_024293.6(RETREG2):c.799A>C (p.Asn267His)	RETREG2 (N267H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153156	NM_024293.6(RETREG2):c.811G>A (p.Gly271Arg)	RETREG2 (G271R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153157	NM_024293.6(RETREG2):c.868T>A (p.Phe290Ile)	RETREG2 (F83I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153158	NM_024293.6(RETREG2):c.960T>A (p.Ser320Arg)	RETREG2 (S320R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313762	NM_024293.6(RETREG2):c.1039A>G (p.Ser347Gly)	RETREG2 (S140G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153135	NM_024293.6(RETREG2):c.1064G>A (p.Arg355Gln)	RETREG2 (R148Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153136	NM_024293.6(RETREG2):c.1105G>A (p.Glu369Lys)	RETREG2 (E162K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651912	NM_024293.6(RETREG2):c.1111C>T (p.Leu371=)	RETREG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3153137	NM_024293.6(RETREG2):c.1115T>C (p.Leu372Pro)	RETREG2 (L165P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153138	NM_024293.6(RETREG2):c.1120C>T (p.Arg374Cys)	RETREG2 (R374C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525135	NM_024293.6(RETREG2):c.1174G>A (p.Val392Met)	RETREG2 (V185M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153139	NM_024293.6(RETREG2):c.1198C>T (p.Arg400Trp)	RETREG2 (R193W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622640	NM_024293.6(RETREG2):c.1288G>C (p.Val430Leu)	RETREG2 (V430L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610072	NM_024293.6(RETREG2):c.1297C>G (p.Leu433Val)	RETREG2 (L433V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313759	NM_024293.6(RETREG2):c.1310C>G (p.Thr437Arg)	RETREG2 (T230R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313760	NM_024293.6(RETREG2):c.1319G>T (p.Gly440Val)	RETREG2 (G233V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153140	NM_024293.6(RETREG2):c.1319G>A (p.Gly440Asp)	RETREG2 (G233D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153141	NM_024293.6(RETREG2):c.1360T>C (p.Cys454Arg)	RETREG2 (C247R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153143	NM_024293.6(RETREG2):c.1549C>T (p.Pro517Ser)	RETREG2 (P517S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514208	NM_024293.6(RETREG2):c.1626G>T (p.Glu542Asp)	RETREG2 (E300D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469222	NM_024293.6(RETREG2):c.1627C>T (p.Pro543Ser)	RETREG2 (P301S +2 more)	Single nucleotide variant (missense variant)	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 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	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 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1526952	GRCh37/hg19 2q35(chr2:218210665-220141650)	AAMP, ABCB6 +42 more	Copy number gain	not specified	GUncertain significance
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1434778	NC_000002.11:g.(?_218999525)_(220435954_?)dup	MIR375, NHEJ1 +50 more	Duplication	Paroxysmal nonkinesigenic dyskinesia +1 more	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 980008	GRCh37/hg19 2q35(chr2:219797684-220088582)x3	CRYBA2, SLC23A3 +11 more	Copy number gain	not provided	GUncertain significance
Select item 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 686962	GRCh37/hg19 2q35(chr2:219879593-220346596)x3	ABCB6, ANKZF1 +17 more	Copy number gain	not provided	GUncertain significance
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 583449	NC_000002.11:g.(?_219135239)_(220290732_?)del	CNPPD1, DNAJB2 +39 more	Deletion	Desmin-related myofibrillar myopathy	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562674	GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	AAMP, ABCB6 +71 more	Copy number loss	not provided	GPathogenic
Select item 549857	Single allele	PTPRN, STK11IP +23 more	Deletion	Bilateral cleft lip and palate +3 more	GPathogenic
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic
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 442382	GRCh37/hg19 2q35(chr2:219275536-220266647)x3	ABCB6, ANKZF1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic

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Items: 70