ClinVar for Gene (Select 154865) - ClinVar

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Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286471	NM_178827.5(IQUB):c.2138T>C (p.Ile713Thr)	IQUB (I713T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286470	NM_178827.5(IQUB):c.2094G>A (p.Met698Ile)	IQUB (M698I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286469	NM_178827.5(IQUB):c.563T>G (p.Val188Gly)	IQUB (V188G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286468	NM_178827.5(IQUB):c.2303T>G (p.Ile768Ser)	IQUB (I768S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286467	NM_178827.5(IQUB):c.1069T>A (p.Phe357Ile)	IQUB (F357I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286466	NM_178827.5(IQUB):c.254C>A (p.Pro85Gln)	IQUB (P85Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286464	NM_178827.5(IQUB):c.2291A>T (p.Asp764Val)	IQUB (D764V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286463	NM_178827.5(IQUB):c.403G>A (p.Val135Ile)	IQUB (V135I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286462	NM_178827.5(IQUB):c.686T>C (p.Val229Ala)	IQUB (V229A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286461	NM_178827.5(IQUB):c.1271C>G (p.Ser424Cys)	IQUB (S424C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110717	NM_178827.5(IQUB):c.994G>T (p.Ala332Ser)	IQUB (A332S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110716	NM_178827.5(IQUB):c.916A>G (p.Thr306Ala)	IQUB (T306A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110715	NM_178827.5(IQUB):c.911C>T (p.Thr304Ile)	IQUB (T304I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110714	NM_178827.5(IQUB):c.908C>A (p.Thr303Lys)	IQUB (T303K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110713	NM_178827.5(IQUB):c.284A>G (p.His95Arg)	IQUB (H95R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110712	NM_178827.5(IQUB):c.275C>T (p.Pro92Leu)	IQUB (P92L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110711	NM_178827.5(IQUB):c.2250C>A (p.Asn750Lys)	IQUB (N750K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110710	NM_178827.5(IQUB):c.2207C>T (p.Ser736Leu)	IQUB (S736L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3110708	NM_178827.5(IQUB):c.1436C>A (p.Thr479Asn)	IQUB (T479N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110707	NM_178827.5(IQUB):c.1072G>A (p.Val358Ile)	IQUB (V358I)	Single nucleotide variant (missense variant +1 more)	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 2604286	NM_178827.5(IQUB):c.525A>T (p.Arg175Ser)	IQUB (R175S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601242	NM_178827.5(IQUB):c.218C>G (p.Pro73Arg)	IQUB (P73R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589496	NM_178827.5(IQUB):c.238G>C (p.Glu80Gln)	IQUB (E80Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560931	NM_178827.5(IQUB):c.1031T>A (p.Val344Glu)	IQUB (V344E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546078	NM_178827.5(IQUB):c.235A>C (p.Met79Leu)	IQUB (M79L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535949	NM_178827.5(IQUB):c.1005T>G (p.His335Gln)	IQUB (H335Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510170	NM_178827.5(IQUB):c.1258C>T (p.Arg420Cys)	IQUB (R420C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494392	NM_178827.5(IQUB):c.1328A>T (p.Gln443Leu)	IQUB (Q443L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479918	NM_178827.5(IQUB):c.1495C>A (p.Gln499Lys)	IQUB (Q499K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404832	NM_178827.5(IQUB):c.64G>A (p.Asp22Asn)	IQUB (D22N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401407	NM_178827.5(IQUB):c.781A>G (p.Thr261Ala)	IQUB (T261A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396827	NM_178827.5(IQUB):c.1861C>T (p.Arg621Cys)	IQUB (R621C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364051	NM_178827.5(IQUB):c.224A>G (p.Asn75Ser)	IQUB (N75S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359529	NM_178827.5(IQUB):c.1337C>T (p.Ala446Val)	IQUB (A446V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358259	NM_178827.5(IQUB):c.1309C>T (p.Leu437Phe)	IQUB (L437F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351874	NM_178827.5(IQUB):c.167A>G (p.His56Arg)	IQUB (H56R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2344557	NM_178827.5(IQUB):c.1475C>T (p.Thr492Ile)	IQUB (T492I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327844	NM_178827.5(IQUB):c.887A>G (p.Asn296Ser)	IQUB (N296S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313239	NM_178827.5(IQUB):c.1630G>A (p.Glu544Lys)	IQUB (E544K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309694	NM_178827.5(IQUB):c.670A>G (p.Ile224Val)	IQUB (I224V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303452	NM_178827.5(IQUB):c.2276C>T (p.Ala759Val)	IQUB (A759V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293740	NM_178827.5(IQUB):c.1881C>G (p.Asn627Lys)	IQUB (N627K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278944	NM_178827.5(IQUB):c.433G>A (p.Val145Ile)	IQUB (V145I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2266561	NM_178827.5(IQUB):c.2294A>T (p.Asp765Val)	IQUB (D765V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246205	NM_178827.5(IQUB):c.1862G>A (p.Arg621His)	IQUB (R621H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235014	NM_178827.5(IQUB):c.2069G>T (p.Cys690Phe)	IQUB (C690F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224108	NM_178827.5(IQUB):c.1178G>A (p.Arg393Gln)	IQUB (R393Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215549	NM_178827.5(IQUB):c.2368C>A (p.Pro790Thr)	IQUB (P790T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214227	NM_178827.5(IQUB):c.1259G>A (p.Arg420His)	IQUB (R420H)	Single nucleotide variant (missense variant +1 more)	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 1687716	Single allele	FEZF1, GPR37 +38 more	Deletion	Delayed speech and language development	GLikely pathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1047873	GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694)	AASS, ANKRD7 +35 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 979793	GRCh37/hg19 7q31.32(chr7:122963176-123347717)x3	IQUB, ASB15 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815029	GRCh37/hg19 7q31.32(chr7:122637357-123574829)x3	SPAM1, HYAL4 +6 more	Copy number gain	not provided	GLikely benign
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 815014	GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	TMEM168, LAMB4 +59 more	Copy number loss	not provided	GPathogenic
Select item 778333	NM_178827.5(IQUB):c.939A>G (p.Val313=)	IQUB	Single nucleotide variant (synonymous variant +1 more)	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 563379	GRCh37/hg19 7q31.32-31.33(chr7:122943743-123804763)x3	LMOD2, IQUB +6 more	Copy number gain	not provided	GLikely benign
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 155415	GRCh38/hg38 7q31.32-31.33(chr7:123303689-124171626)x3	ASB15, ASB15-AS1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 155209	GRCh38/hg38 7q31.32-31.33(chr7:123303689-124164709)x3	ASB15, ASB15-AS1 +20 more	Copy number gain	See cases	GUncertain significance
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 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 145985	GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1	AASS, ANKRD7 +253 more	Copy number loss	See cases	GPathogenic
Select item 144923	GRCh38/hg38 7q31.32-31.33(chr7:123319393-124170657)x3	ASB15, ASB15-AS1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 79