23186[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 55

	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 2256955	NM_014666.4(CLINT1):c.1777A>G (p.Thr593Ala)	CLINT1 (T593A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373212	NM_014666.4(CLINT1):c.1759G>A (p.Ala587Thr)	CLINT1 (A605T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2277195	NM_014666.4(CLINT1):c.1706C>G (p.Thr569Ser)	CLINT1 (T569S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145797	NM_014666.4(CLINT1):c.1696C>T (p.Leu566Phe)	CLINT1 (L566F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486755	NM_014666.4(CLINT1):c.1669A>C (p.Met557Leu)	CLINT1 (M575L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213288	NM_014666.4(CLINT1):c.1664A>G (p.Asn555Ser)	CLINT1 (N555S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2482742	NM_014666.4(CLINT1):c.1625A>G (p.Asn542Ser)	CLINT1 (N560S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267738	NM_014666.4(CLINT1):c.1613G>A (p.Arg538Gln)	CLINT1 (R538Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145796	NM_014666.4(CLINT1):c.1594T>A (p.Ser532Thr)	CLINT1 (S532T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217359	NM_014666.4(CLINT1):c.1518G>C (p.Met506Ile)	CLINT1 (M524I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549405	NM_014666.4(CLINT1):c.1477A>G (p.Met493Val)	CLINT1 (M493V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304854	NM_014666.4(CLINT1):c.1471C>T (p.Pro491Ser)	CLINT1 (P509S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231982	NM_014666.4(CLINT1):c.1391T>C (p.Met464Thr)	CLINT1 (M482T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145794	NM_014666.4(CLINT1):c.1381-8A>G	CLINT1 (Y458C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211999	NM_014666.4(CLINT1):c.1381-12C>G	CLINT1 (L475V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267743	NM_014666.4(CLINT1):c.1295C>T (p.Ala432Val)	CLINT1 (A432V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288970	NM_014666.4(CLINT1):c.1243C>G (p.Pro415Ala)	CLINT1 (P415A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145793	NM_014666.4(CLINT1):c.1237C>G (p.Pro413Ala)	CLINT1 (P395A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514601	NM_014666.4(CLINT1):c.1199C>T (p.Ala400Val)	CLINT1 (A400V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145792	NM_014666.4(CLINT1):c.1142C>A (p.Ala381Asp)	CLINT1 (A363D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145791	NM_014666.4(CLINT1):c.1103G>A (p.Gly368Glu)	CLINT1 (G350E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145790	NM_014666.4(CLINT1):c.1097C>A (p.Thr366Lys)	CLINT1 (T348K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145802	NM_014666.4(CLINT1):c.975C>A (p.Asp325Glu)	CLINT1 (D307E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267740	NM_014666.4(CLINT1):c.946T>C (p.Ser316Pro)	CLINT1 (S298P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511837	NM_014666.4(CLINT1):c.920A>C (p.His307Pro)	CLINT1 (H289P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306819	NM_014666.4(CLINT1):c.917C>T (p.Thr306Ile)	CLINT1 (T306I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314449	NM_014666.4(CLINT1):c.749T>A (p.Phe250Tyr)	CLINT1 (F250Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407630	NM_014666.4(CLINT1):c.737C>T (p.Pro246Leu)	CLINT1 (P246L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145801	NM_014666.4(CLINT1):c.734C>T (p.Ser245Phe)	CLINT1 (S227F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267739	NM_014666.4(CLINT1):c.659G>A (p.Arg220Gln)	CLINT1 (R202Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363594	NM_014666.4(CLINT1):c.640G>A (p.Asp214Asn)	CLINT1 (D196N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145800	NM_014666.4(CLINT1):c.598A>G (p.Lys200Glu)	CLINT1 (K200E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145799	NM_014666.4(CLINT1):c.500T>C (p.Val167Ala)	CLINT1 (V167A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145798	NM_014666.4(CLINT1):c.421G>A (p.Asp141Asn)	CLINT1 (D123N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510996	NM_014666.4(CLINT1):c.359A>G (p.His120Arg)	CLINT1 (H120R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267742	NM_014666.4(CLINT1):c.346T>C (p.Phe116Leu)	CLINT1 (F116L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267741	NM_014666.4(CLINT1):c.265C>G (p.Leu89Val)	CLINT1 (L89V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322305	NM_014666.4(CLINT1):c.250C>G (p.Leu84Val)	CLINT1 (L66V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	PTTG1, SLU7 +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 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 563114	GRCh37/hg19 5q33.3(chr5:156911673-157225044)x3	LSM11, C5orf52 +4 more	Copy number gain	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 55