548[HGNC] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 151578	GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	AMPH, ANLN +229 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 149132	GRCh38/hg38 7p14.2-14.1(chr7:35460776-42013800)x1	AMPH, ANLN +197 more	Copy number loss	See cases	GPathogenic
Select item 2551925	NM_001637.4(AOAH):c.1722G>C (p.Gly574=)	AOAH (G614A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2507784	NM_001637.4(AOAH):c.1720G>A (p.Gly574Arg)	AOAH (G574R +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3299888	NM_001637.4(AOAH):c.1700A>G (p.Gln567Arg)	AOAH (Q567R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299877	NM_001637.4(AOAH):c.1686C>T (p.Asn562=)	AOAH (T602I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3299866	NM_001637.4(AOAH):c.1639G>T (p.Val547Leu)	AOAH (R586S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127337	NM_001637.4(AOAH):c.1636A>C (p.Lys546Gln)	AOAH (K546Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307551	NM_001637.4(AOAH):c.1576G>A (p.Val526Met)	AOAH (V526M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243310	NM_001637.4(AOAH):c.1547G>A (p.Gly516Asp)	AOAH (G484D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221128	NM_001637.4(AOAH):c.1517A>G (p.His506Arg)	AOAH (H474R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127336	NM_001637.4(AOAH):c.1501A>G (p.Met501Val)	AOAH (M469V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486491	NM_001637.4(AOAH):c.1448C>T (p.Thr483Ile)	AOAH (T483I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370247	NM_001637.4(AOAH):c.1381G>A (p.Gly461Ser)	AOAH (G429S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355634	NM_001637.4(AOAH):c.1348T>G (p.Phe450Val)	AOAH (F418V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127335	NM_001637.4(AOAH):c.1324A>G (p.Met442Val)	AOAH (M442V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3299846	NM_001637.4(AOAH):c.1276G>A (p.Asp426Asn)	AOAH (D394N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607879	NM_001637.4(AOAH):c.1265C>A (p.Thr422Asn)	AOAH (T390N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538654	NM_001637.4(AOAH):c.1265C>T (p.Thr422Ile)	AOAH (T390I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605992	NM_001637.4(AOAH):c.1246T>C (p.Tyr416His)	AOAH (Y384H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299836	NM_001637.4(AOAH):c.1219C>A (p.Leu407Met)	AOAH (L375M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456767	NM_001637.4(AOAH):c.1139G>T (p.Ser380Ile)	AOAH (S348I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307768	NM_001637.4(AOAH):c.1132G>C (p.Gly378Arg)	AOAH (G346R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381040	NM_001637.4(AOAH):c.1069A>T (p.Asn357Tyr)	AOAH (N357Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263219	NM_001637.4(AOAH):c.1052T>C (p.Ile351Thr)	AOAH (I319T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553275	NM_001637.4(AOAH):c.1018A>C (p.Asn340His)	AOAH (N340H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520047	NM_001637.4(AOAH):c.964C>A (p.Arg322Ser)	AOAH (R290S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521679	NM_001637.4(AOAH):c.950A>G (p.Lys317Arg)	AOAH (K285R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493758	NM_001637.4(AOAH):c.928T>G (p.Ser310Ala)	AOAH (S278A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533052	NM_001637.4(AOAH):c.833C>T (p.Ser278Leu)	AOAH (S278L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484168	NM_001637.4(AOAH):c.788C>T (p.Ser263Leu)	AOAH (S263L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210037	NM_001637.4(AOAH):c.718G>T (p.Asp240Tyr)	AOAH (D240Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377198	NM_001637.4(AOAH):c.709G>A (p.Asp237Asn)	AOAH (D237N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127343	NM_001637.4(AOAH):c.689G>A (p.Cys230Tyr)	AOAH (C198Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299857	NM_001637.4(AOAH):c.674A>G (p.His225Arg)	AOAH (H225R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392279	NM_001637.4(AOAH):c.628G>A (p.Asp210Asn)	AOAH (D178N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2291458	NM_001637.4(AOAH):c.607G>A (p.Gly203Arg)	AOAH (G171R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356576	NM_001637.4(AOAH):c.604C>T (p.Arg202Trp)	AOAH (R202W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383032	NM_001637.4(AOAH):c.574G>A (p.Val192Ile)	AOAH (V160I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2531275	NM_001637.4(AOAH):c.443C>T (p.Pro148Leu)	AOAH (P116L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127340	NM_001637.4(AOAH):c.368G>A (p.Cys123Tyr)	AOAH (C123Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324870	NM_001637.4(AOAH):c.355G>A (p.Gly119Ser)	AOAH (G119S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403436	NM_001637.4(AOAH):c.328A>G (p.Thr110Ala)	AOAH (T78A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599066	NM_001637.4(AOAH):c.188A>G (p.Gln63Arg)	AOAH (Q63R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127339	NM_001637.4(AOAH):c.179C>T (p.Ser60Leu)	AOAH (S60L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127338	NM_001637.4(AOAH):c.167A>G (p.Gln56Arg)	AOAH (Q56R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612264	NM_001637.4(AOAH):c.148G>A (p.Val50Ile)	AOAH (V50I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334916	NM_001637.4(AOAH):c.112G>A (p.Gly38Arg)	AOAH (G38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127344	NM_001637.4(AOAH):c.92C>A (p.Ser31Tyr)	AOAH (S31Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127341	NM_001637.4(AOAH):c.42C>G (p.Phe14Leu)	AOAH (F14L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062981	GRCh37/hg19 7p14.3-14.1(chr7:33478398-39686397)x1	AMPH, ANLN +22 more	Copy number loss	not specified	GLikely pathogenic
Select item 1809148	GRCh37/hg19 7p14.2-14.1(chr7:36374178-37923116)x1	ANLN, AOAH +4 more	Copy number loss	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527350	GRCh37/hg19 7p14.2(chr7:35915460-36766683)	ANLN, AOAH +3 more	Copy number loss	not specified	GUncertain significance
Select item 1527345	GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	ADCYAP1R1, AMPH +53 more	Copy number gain	not specified	GLikely pathogenic
Select item 1412049	NC_000007.13:g.(?_36429636)_(37956139_?)dup	ANLN, AOAH +5 more	Duplication	Primary ciliary dyskinesia 6	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563420	GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	PPP1R17, NPSR1-AS1 +51 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395336	GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1	AEBP1, AMPH +54 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 69