16939[HGNC] - ClinVar

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Items: 47

	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 2282094	NM_006425.5(SLU7):c.1649G>A (p.Arg550Gln)	SLU7 (R550Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336118	NM_006425.5(SLU7):c.1588A>G (p.Asn530Asp)	SLU7 (N530D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166182	NM_006425.5(SLU7):c.1583C>T (p.Ala528Val)	SLU7 (A538V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402390	NM_006425.5(SLU7):c.1526G>A (p.Arg509Gln)	SLU7 (R509Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213111	NM_006425.5(SLU7):c.1502A>C (p.Lys501Thr)	SLU7 (K501T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398741	NM_006425.5(SLU7):c.1496A>G (p.Lys499Arg)	SLU7 (K499R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166181	NM_006425.5(SLU7):c.1481T>C (p.Leu494Pro)	SLU7 (L494P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252190	NM_006425.5(SLU7):c.1461G>A (p.Met487Ile)	LOC129389407, SLU7 (M487I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268487	NM_006425.5(SLU7):c.1426G>A (p.Gly476Arg)	LOC129389407, SLU7 (G476R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512648	NM_006425.5(SLU7):c.1298G>A (p.Gly433Glu)	SLU7 (G448E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318137	NM_006425.5(SLU7):c.1274T>A (p.Ile425Asn)	SLU7 (I425N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290592	NM_006425.5(SLU7):c.1273A>G (p.Ile425Val)	SLU7 (I440V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554007	NM_006425.5(SLU7):c.1241T>C (p.Val414Ala)	SLU7 (V414A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287413	NM_006425.5(SLU7):c.1124A>T (p.Lys375Met)	SLU7 (K390M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320600	NM_006425.5(SLU7):c.986T>C (p.Leu329Ser)	SLU7 (L329S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387339	NM_006425.5(SLU7):c.694G>T (p.Asp232Tyr)	SLU7 (D247Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607192	NM_006425.5(SLU7):c.668A>T (p.Glu223Val)	SLU7 (E223V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266536	NM_006425.5(SLU7):c.654C>A (p.His218Gln)	SLU7 (H218Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2861674	NM_006425.5(SLU7):c.571-13_571-5dup	SLU7	Duplication (intron variant)	not provided	GLikely benign
Select item 2846245	NM_006425.5(SLU7):c.571-15_571-5dup	SLU7	Duplication (intron variant)	not provided	GLikely benign
Select item 2776150	NM_006425.5(SLU7):c.571-31CTTT[3]	SLU7	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2534681	NM_006425.5(SLU7):c.416G>A (p.Arg139Gln)	SLU7 (R149Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462445	NM_006425.5(SLU7):c.347G>A (p.Arg116His)	SLU7 (R126H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769311	NM_006425.5(SLU7):c.331A>G (p.Ile111Val)	SLU7 (I111V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	PTTG1, UBLCP1 +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808993	GRCh37/hg19 5q33.3-34(chr5:159535230-161656766)x3	ATP10B, C1QTNF2 +11 more	Copy number gain	not provided	GUncertain significance
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 814759	GRCh37/hg19 5q33.3-34(chr5:159714197-161313217)x1	C1QTNF2, GABRB2 +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 814758	GRCh37/hg19 5q33.3-34(chr5:159623973-160000962)x3	CCNJL, SLU7 +6 more	Copy number gain	not provided	GUncertain significance
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 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 563116	GRCh37/hg19 5q33.3-34(chr5:159694389-160048347)x1	SLU7, CCNJL +5 more	Copy number loss	not provided	GUncertain significance
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: 47