29067[HGNC] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 147500	GRCh38/hg38 5q32(chr5:145197355-148541511)x1	C5orf46, CTB-99A3.1 +82 more	Copy number loss	See cases	GPathogenic
Select item 2601806	NM_001270941.2(JAKMIP2):c.2324A>T (p.Glu775Val)	JAKMIP2, JAKMIP2-AS1 (E754V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112171	NM_001270941.2(JAKMIP2):c.1888C>T (p.Pro630Ser)	JAKMIP2, JAKMIP2-AS1 (P609S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286143	NM_001270941.2(JAKMIP2):c.1706G>A (p.Arg569Gln)	JAKMIP2, JAKMIP2-AS1 (R527Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331019	NM_001270941.2(JAKMIP2):c.1496C>T (p.Thr499Met)	JAKMIP2, JAKMIP2-AS1 (T499M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112169	NM_001270941.2(JAKMIP2):c.1320C>G (p.Asp440Glu)	JAKMIP2, JAKMIP2-AS1 (D440E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112168	NM_001270941.2(JAKMIP2):c.1198C>A (p.Gln400Lys)	JAKMIP2, JAKMIP2-AS1 (Q358K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112167	NM_001270941.2(JAKMIP2):c.1124A>G (p.Lys375Arg)	JAKMIP2, JAKMIP2-AS1 (K333R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112166	NM_001270941.2(JAKMIP2):c.1111C>A (p.Leu371Met)	JAKMIP2, JAKMIP2-AS1 (L329M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337154	NM_001270941.2(JAKMIP2):c.989A>G (p.Asn330Ser)	JAKMIP2, JAKMIP2-AS1 (N288S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340278	NM_001270941.2(JAKMIP2):c.921T>A (p.Asp307Glu)	JAKMIP2, JAKMIP2-AS1 (D265E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112174	NM_001270941.2(JAKMIP2):c.919G>A (p.Asp307Asn)	JAKMIP2, JAKMIP2-AS1 (D265N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287149	NM_001270941.2(JAKMIP2):c.864A>G (p.Ile288Met)	JAKMIP2, JAKMIP2-AS1 (I288M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326989	NM_001270941.2(JAKMIP2):c.843G>T (p.Leu281Phe)	JAKMIP2-AS1, JAKMIP2 (L281F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287148	NM_001270941.2(JAKMIP2):c.824A>T (p.His275Leu)	JAKMIP2, JAKMIP2-AS1 (H233L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112173	NM_001270941.2(JAKMIP2):c.770A>G (p.Asn257Ser)	JAKMIP2, JAKMIP2-AS1 (N215S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112172	NM_001270941.2(JAKMIP2):c.637A>G (p.Ile213Val)	JAKMIP2, JAKMIP2-AS1 (I213V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390451	NM_001270941.2(JAKMIP2):c.400A>G (p.Thr134Ala)	JAKMIP2, JAKMIP2-AS1 (T134A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2553300	NM_001270941.2(JAKMIP2):c.384A>C (p.Lys128Asn)	JAKMIP2, JAKMIP2-AS1 (K86N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2223516	NM_001270941.2(JAKMIP2):c.365G>A (p.Arg122His)	JAKMIP2, JAKMIP2-AS1 (R122H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3112170	NM_001270941.2(JAKMIP2):c.176G>A (p.Arg59His)	JAKMIP2, JAKMIP2-AS1 (R59H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2249178	NM_001270941.2(JAKMIP2):c.164C>T (p.Ala55Val)	JAKMIP2, JAKMIP2-AS1 (A13V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2593330	NM_001270941.2(JAKMIP2):c.46A>G (p.Ile16Val)	JAKMIP2 (I16V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062812	GRCh37/hg19 5q31.3-32(chr5:141566629-147240595)x1	ARHGAP26, DPYSL3 +19 more	Copy number loss	not specified	GPathogenic
Select item 2685175	GRCh37/hg19 5q32(chr5:146046054-147156861)x1	DPYSL3, JAKMIP2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1808844	GRCh37/hg19 5q32(chr5:147060274-147304443)x3	C5orf46, JAKMIP2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 980744	GRCh37/hg19 5q32(chr5:147088554-147321173)x3	C5orf46, JAKMIP2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687529	GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	ABLIM3, ADRB2 +92 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	HARS1, HARS2 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442272	GRCh37/hg19 5q31.3-32(chr5:141113273-149154835)x1	ABLIM3, ADRB2 +48 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 40