ClinVar for Gene (Select 168850) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338517	NM_176814.5(ZNF800):c.61+1G>A	ZNF800	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3259605	NM_176814.5(ZNF800):c.152G>T (p.Arg51Leu)	ZNF800 (R51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259604	NM_176814.5(ZNF800):c.1717G>A (p.Ala573Thr)	ZNF800 (A573T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259603	NM_176814.5(ZNF800):c.1166C>A (p.Thr389Lys)	ZNF800 (T389K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198498	NM_176814.5(ZNF800):c.1718C>G (p.Ala573Gly)	ZNF800 (A573G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198497	NM_176814.5(ZNF800):c.1709A>G (p.Asn570Ser)	ZNF800 (N570S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198496	NM_176814.5(ZNF800):c.1407G>C (p.Gln469His)	ZNF800 (Q469H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198494	NM_176814.5(ZNF800):c.1331C>T (p.Pro444Leu)	ZNF800 (P444L)	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 2611809	NM_176814.5(ZNF800):c.1334C>T (p.Ala445Val)	ZNF800 (A445V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593358	NM_176814.5(ZNF800):c.1885A>G (p.Lys629Glu)	ZNF800 (K629E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559528	NM_176814.5(ZNF800):c.1949G>A (p.Gly650Glu)	ZNF800 (G650E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556270	NM_176814.5(ZNF800):c.100C>A (p.Gln34Lys)	ZNF800 (Q34K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485430	NM_176814.5(ZNF800):c.478A>G (p.Ser160Gly)	ZNF800 (S160G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474067	NM_176814.5(ZNF800):c.4C>T (p.Pro2Ser)	ZNF800 (P2S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403362	NM_176814.5(ZNF800):c.356C>T (p.Ala119Val)	ZNF800 (A119V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393874	NM_176814.5(ZNF800):c.1261C>T (p.Pro421Ser)	ZNF800 (P421S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379295	NM_176814.5(ZNF800):c.443C>T (p.Ser148Leu)	ZNF800 (S148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331581	NM_176814.5(ZNF800):c.1910A>G (p.Lys637Arg)	ZNF800 (K637R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308601	NM_176814.5(ZNF800):c.1391C>T (p.Ser464Leu)	ZNF800 (S464L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289717	NM_176814.5(ZNF800):c.418C>A (p.Gln140Lys)	ZNF800 (Q140K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289247	NM_176814.5(ZNF800):c.962A>C (p.Asp321Ala)	ZNF800 (D321A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208767	NM_176814.5(ZNF800):c.686A>G (p.Gln229Arg)	ZNF800 (Q229R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207052	NM_176814.5(ZNF800):c.1388C>T (p.Pro463Leu)	ZNF800 (P463L)	Single nucleotide variant (missense variant)	not specified	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 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 787319	NM_176814.5(ZNF800):c.1815C>T (p.Val605=)	ZNF800	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709238	NM_176814.5(ZNF800):c.675T>C (p.Asp225=)	ZNF800	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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
Select item 253455	GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1	AASS, RNU2-1 +57 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 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	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 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 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 148342	GRCh38/hg38 7q31.32-32.1(chr7:123829366-127947731)x1	ARF5, FSCN3 +60 more	Copy number loss	See cases	GLikely pathogenic
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 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 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

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Links from Gene

Items: 48