37280[HGNC] - ClinVar

Search results

Items: 99

	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 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic
Select item 153888	GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3	IMPDH1, AHCYL2 +106 more	Copy number gain	See cases	GLikely benign
Select item 3219771	NM_001174164.2(PRRT4):c.2661C>G (p.Ile887Met)	PRRT4 (I887M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2251594	NM_001174164.2(PRRT4):c.2657A>C (p.Gln886Pro)	PRRT4 (Q886P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3219770	NM_001174164.2(PRRT4):c.2633A>G (p.Glu878Gly)	PRRT4 (S457G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3310616	NM_001174164.2(PRRT4):c.2477C>A (p.Pro826Gln)	PRRT4 (P826Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3219769	NM_001174164.2(PRRT4):c.2462G>A (p.Ser821Asn)	PRRT4 (S821N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2610019	NM_001174164.2(PRRT4):c.2446A>C (p.Met816Leu)	PRRT4 (M816L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3219768	NM_001174164.2(PRRT4):c.2413T>C (p.Ser805Pro)	PRRT4 (S805P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3219767	NM_001174164.2(PRRT4):c.2410G>A (p.Gly804Ser)	PRRT4 (G804S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2608605	NM_001174164.2(PRRT4):c.2357C>T (p.Pro786Leu)	PRRT4 (P365S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3219766	NM_001174164.2(PRRT4):c.2308G>C (p.Gly770Arg)	PRRT4 (R425P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310615	NM_001174164.2(PRRT4):c.2306C>T (p.Thr769Ile)	PRRT4 (T769I +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2354756	NM_001174164.2(PRRT4):c.2263G>T (p.Ala755Ser)	PRRT4 (R410L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328584	NM_001174164.2(PRRT4):c.2263G>A (p.Ala755Thr)	PRRT4 (R410H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269870	NM_001174164.2(PRRT4):c.2222T>C (p.Leu741Pro)	PRRT4 (L741P +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2393110	NM_001174164.2(PRRT4):c.2192G>A (p.Ser731Asn)	PRRT4 (A310T +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3219765	NM_001174164.2(PRRT4):c.2074G>A (p.Gly692Arg)	PRRT4 (G692R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219764	NM_001174164.2(PRRT4):c.2047C>A (p.Pro683Thr)	PRRT4 (P683T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342218	NM_001174164.2(PRRT4):c.2039T>C (p.Leu680Pro)	PRRT4 (L680P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387316	NM_001174164.2(PRRT4):c.2035G>T (p.Ala679Ser)	PRRT4 (A679S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219763	NM_001174164.2(PRRT4):c.1915C>T (p.Arg639Cys)	PRRT4 (R639C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219762	NM_001174164.2(PRRT4):c.1906A>G (p.Lys636Glu)	PRRT4 (K636E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219761	NM_001174164.2(PRRT4):c.1856G>A (p.Gly619Asp)	PRRT4 (G619D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219760	NM_001174164.2(PRRT4):c.1786C>T (p.Pro596Ser)	PRRT4 (P596S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546629	NM_001174164.2(PRRT4):c.1780C>T (p.Pro594Ser)	PRRT4 (P594S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219759	NM_001174164.2(PRRT4):c.1771C>A (p.Leu591Met)	PRRT4 (L591M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530977	NM_001174164.2(PRRT4):c.1741C>T (p.His581Tyr)	PRRT4 (H581Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283299	NM_001174164.2(PRRT4):c.1644C>G (p.Phe548Leu)	PRRT4 (F548L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219758	NM_001174164.2(PRRT4):c.1616C>T (p.Thr539Ile)	PRRT4 (T539I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219757	NM_001174164.2(PRRT4):c.1613C>G (p.Ala538Gly)	PRRT4 (A538G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469021	NM_001174164.2(PRRT4):c.1586C>T (p.Pro529Leu)	PRRT4 (P529L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219756	NM_001174164.2(PRRT4):c.1558G>C (p.Gly520Arg)	PRRT4 (G520R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2591299	NM_001174164.2(PRRT4):c.1468C>T (p.Pro490Ser)	PRRT4 (P490S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287748	NM_001174164.2(PRRT4):c.1465C>T (p.Arg489Cys)	PRRT4 (R489C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558782	NM_001174164.2(PRRT4):c.1367C>T (p.Ala456Val)	PRRT4 (A456V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245744	NM_001174164.2(PRRT4):c.1360C>A (p.Leu454Met)	PRRT4 (L454M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288772	NM_001174164.2(PRRT4):c.1343T>G (p.Leu448Arg)	PRRT4 (L448R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302747	NM_001174164.2(PRRT4):c.1322T>A (p.Leu441Gln)	PRRT4 (L441Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332622	NM_001174164.2(PRRT4):c.1294G>T (p.Ala432Ser)	PRRT4 (A432S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480492	NM_001174164.2(PRRT4):c.1276G>C (p.Asp426His)	PRRT4 (D426H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310619	NM_001174164.2(PRRT4):c.1258G>T (p.Asp420Tyr)	PRRT4 (D420Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614222	NM_001174164.2(PRRT4):c.1228G>C (p.Gly410Arg)	PRRT4 (G410R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310617	NM_001174164.2(PRRT4):c.1193G>T (p.Cys398Phe)	PRRT4 (C398F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389406	NM_001174164.2(PRRT4):c.1177C>T (p.Pro393Ser)	PRRT4 (P393S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219754	NM_001174164.2(PRRT4):c.1159C>A (p.Leu387Ile)	PRRT4 (L387I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219782	NM_001174164.2(PRRT4):c.979G>A (p.Gly327Arg)	PRRT4 (G327R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596382	NM_001174164.2(PRRT4):c.959G>A (p.Gly320Glu)	PRRT4 (G320E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310620	NM_001174164.2(PRRT4):c.914C>T (p.Ser305Phe)	PRRT4 (S305F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242841	NM_001174164.2(PRRT4):c.890C>T (p.Pro297Leu)	PRRT4 (P297L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219780	NM_001174164.2(PRRT4):c.889C>G (p.Pro297Ala)	PRRT4 (P297A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219779	NM_001174164.2(PRRT4):c.869C>T (p.Thr290Ile)	PRRT4 (T290I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472568	NM_001174164.2(PRRT4):c.857C>T (p.Ser286Leu)	PRRT4 (S286L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2235510	NM_001174164.2(PRRT4):c.854C>T (p.Ala285Val)	PRRT4 (A285V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219777	NM_001174164.2(PRRT4):c.823C>T (p.Pro275Ser)	PRRT4 (P275S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219776	NM_001174164.2(PRRT4):c.806A>T (p.Lys269Met)	PRRT4 (K269M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457632	NM_001174164.2(PRRT4):c.758G>C (p.Gly253Ala)	PRRT4 (G253A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310614	NM_001174164.2(PRRT4):c.746C>T (p.Ser249Leu)	PRRT4 (S249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307946	NM_001174164.2(PRRT4):c.671T>C (p.Leu224Pro)	PRRT4 (L224P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492255	NM_001174164.2(PRRT4):c.611G>A (p.Arg204Gln)	PRRT4 (R204Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219775	NM_001174164.2(PRRT4):c.481G>A (p.Val161Met)	PRRT4 (V161M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208419	NM_001174164.2(PRRT4):c.425C>T (p.Pro142Leu)	PRRT4 (P142L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396863	NM_001174164.2(PRRT4):c.419A>C (p.Asp140Ala)	PRRT4 (D140A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219772	NM_001174164.2(PRRT4):c.403C>G (p.Arg135Gly)	PRRT4 (R135G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456996	NM_001174164.2(PRRT4):c.403C>T (p.Arg135Cys)	PRRT4 (R135C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310618	NM_001174164.2(PRRT4):c.386C>T (p.Pro129Leu)	PRRT4 (P129L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3310613	NM_001174164.2(PRRT4):c.368G>A (p.Arg123Gln)	PRRT4 (R123Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2403883	NM_001174164.2(PRRT4):c.349G>A (p.Glu117Lys)	PRRT4 (E117K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372722	NM_001174164.2(PRRT4):c.197T>G (p.Val66Gly)	PRRT4 (V66G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526324	NM_001174164.2(PRRT4):c.193G>A (p.Ala65Thr)	PRRT4 (A65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459326	NM_001174164.2(PRRT4):c.127A>C (p.Ser43Arg)	PRRT4 (S43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467846	NM_001174164.2(PRRT4):c.82T>A (p.Ser28Thr)	PRRT4 (S28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219774	NM_001174164.2(PRRT4):c.43G>A (p.Val15Ile)	PRRT4 (V15I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219781	NM_001174164.2(PRRT4):c.8G>A (p.Arg3Lys)	PRRT4 (R3K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 3062974	GRCh37/hg19 7q32.1(chr7:127962834-128281256)x3	HILPDA, IMPDH1 +3 more	Copy number gain	not specified	GUncertain significance
Select item 2685269	GRCh37/hg19 7q31.33-32.2(chr7:127076892-129405807)x1	AHCYL2, ARF5 +26 more	Copy number loss	not provided	GPathogenic
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 1527396	GRCh37/hg19 7q32.1(chr7:127311520-128041339)	IMPDH1, LEP +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1527394	GRCh37/hg19 7q31.33-33(chr7:124103982-134693590)	BPGM, CALD1 +65 more	Copy number loss	not specified	GPathogenic
Select item 1527391	GRCh37/hg19 7q31.33-33(chr7:123967475-132729981)	ZC3HC1, ZNF800 +55 more	Copy number loss	not specified	GPathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
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 687212	GRCh37/hg19 7q31.32-32.2(chr7:121480906-129389003)x1	AASS, AHCYL2 +46 more	Copy number loss	not provided	GPathogenic
Select item 686020	GRCh37/hg19 7q32.1(chr7:127999644-128465294)x3	CALU, CCDC136 +7 more	Copy number gain	not provided	GUncertain significance
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 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 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic

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Items: 99