ClinVar for Gene (Select 153768) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3218522	NM_205846.3(PRELID2):c.88A>T (p.Met30Leu)	PRELID2 (M30L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218521	NM_205846.3(PRELID2):c.484A>C (p.Ile162Leu)	PRELID2 (I133L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218519	NM_205846.3(PRELID2):c.51G>C (p.Gln17His)	PRELID2 (Q17H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3218518	NM_205846.3(PRELID2):c.343C>T (p.Arg115Trp)	PRELID2 (R127W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218517	NM_205846.3(PRELID2):c.311A>G (p.Gln104Arg)	PRELID2 (Q116R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218516	NM_205846.3(PRELID2):c.286C>T (p.Arg96Trp)	PRELID2 (R67W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218515	NM_205846.3(PRELID2):c.207+560G>C	PRELID2 (W79C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218514	NM_205846.3(PRELID2):c.13G>A (p.Val5Met)	PRELID2 (V5M)	Single nucleotide variant (5 prime UTR 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 2604563	NM_205846.3(PRELID2):c.344G>A (p.Arg115Gln)	PRELID2 (R127Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494777	NM_205846.3(PRELID2):c.67C>T (p.Leu23Phe)	PRELID2 (L23F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2408341	NM_205846.3(PRELID2):c.62G>C (p.Ser21Thr)	PRELID2 (S21T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2290367	NM_205846.3(PRELID2):c.283A>C (p.Ile95Leu)	PRELID2 (I107L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288287	NM_205846.3(PRELID2):c.307A>G (p.Thr103Ala)	PRELID2 (T103A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263396	NM_205846.3(PRELID2):c.344G>C (p.Arg115Pro)	PRELID2 (R86P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980742	GRCh37/hg19 5q32(chr5:145179409-145538047)x3	GRXCR2, LARS1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 980741	GRCh37/hg19 5q32(chr5:144980444-145187610)x3	PRELID2	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 635929	Single allele	SH3RF2, TCERG1 +8 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +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
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	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 147500	GRCh38/hg38 5q32(chr5:145197355-148541511)x1	C5orf46, CTB-99A3.1 +82 more	Copy number loss	See cases	GPathogenic
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 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	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

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Links from Gene

Items: 33