28110[HGNC] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 1707452	Single allele	ADRA1B, ATP10B +111 more	Duplication	not specified	GUncertain significance
Select item 149967	GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)x1	GABRA1, GABRA6 +108 more	Copy number loss	See cases	GPathogenic
Select item 3330635	NM_145049.5(UBLCP1):c.98A>G (p.Lys33Arg)	UBLCP1 (K33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185671	NM_145049.5(UBLCP1):c.142C>T (p.Leu48Phe)	UBLCP1 (L48F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185672	NM_145049.5(UBLCP1):c.233G>A (p.Arg78His)	UBLCP1 (R78H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185673	NM_145049.5(UBLCP1):c.401G>T (p.Arg134Met)	UBLCP1 (R134M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185675	NM_145049.5(UBLCP1):c.402G>T (p.Arg134Ser)	UBLCP1 (R134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272607	NM_145049.5(UBLCP1):c.518C>T (p.Ala173Val)	UBLCP1 (A173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330637	NM_145049.5(UBLCP1):c.557A>C (p.Asn186Thr)	UBLCP1 (N186T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185676	NM_145049.5(UBLCP1):c.608C>A (p.Ala203Glu)	UBLCP1 (A203E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556476	NM_145049.5(UBLCP1):c.703A>G (p.Ile235Val)	UBLCP1 (I235V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339919	NM_145049.5(UBLCP1):c.913C>T (p.His305Tyr)	UBLCP1 (H305Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185677	NM_145049.5(UBLCP1):c.950G>T (p.Gly317Val)	UBLCP1 (G317V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	ADAM19, ADRA1B +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1339784	GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1	ADAM19, ADRA1B +33 more	Copy number loss	not provided	Gnot provided
Select item 814757	GRCh37/hg19 5q33.3-34(chr5:157801321-162780186)x1	GABRA1, PTTG1 +17 more	Copy number loss	not provided	GPathogenic
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 687970	GRCh37/hg19 5q33.3(chr5:158423338-159076314)x3	EBF1, IL12B +2 more	Copy number gain	not provided	GUncertain significance
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	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 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 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic

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Items: 31