SP4[gene] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 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 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 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ABCB5, AGMO +248 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 147684	GRCh38/hg38 7p21.1-15.3(chr7:19145712-22193713)x1	ABCB5, CDCA7L +76 more	Copy number loss	See cases	GPathogenic
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 2286210	NM_003112.5(SP4):c.32A>C (p.Glu11Ala)	SP4 (E11A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2621389	NM_003112.5(SP4):c.85G>A (p.Glu29Lys)	SP4 (E29K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2550015	NM_003112.5(SP4):c.85G>C (p.Glu29Gln)	SP4 (E12Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2571623	NM_003112.5(SP4):c.90dup (p.Asn31Ter)	SP4 (N14* +1 more)	Duplication (nonsense +2 more)	Attention deficit hyperactivity disorder +5 more	GUncertain significance
Select item 3321713	NM_003112.5(SP4):c.95A>G (p.Asn32Ser)	SP4 (N15S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2383857	NM_003112.5(SP4):c.258A>T (p.Gln86His)	SP4 (Q86H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298449	NM_003112.5(SP4):c.277G>T (p.Val93Leu)	SP4 (V93L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547895	NM_003112.5(SP4):c.319T>A (p.Ser107Thr)	SP4 (S90T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263618	NM_003112.5(SP4):c.326C>T (p.Pro109Leu)	SP4 (P109L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546974	NM_003112.5(SP4):c.362C>T (p.Ala121Val)	SP4 (A121V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384587	NM_003112.5(SP4):c.371C>T (p.Ser124Leu)	SP4 (S107L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538815	NM_003112.5(SP4):c.403G>A (p.Ala135Thr)	SP4 (A135T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1710409	NM_003112.5(SP4):c.424del (p.Ser142fs)	SP4 (S125fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3167922	NM_003112.5(SP4):c.436T>C (p.Ser146Pro)	SP4 (S146P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167923	NM_003112.5(SP4):c.437C>T (p.Ser146Phe)	SP4 (S146F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167924	NM_003112.5(SP4):c.443C>G (p.Pro148Arg)	SP4 (P148R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544832	NM_003112.5(SP4):c.445G>C (p.Gly149Arg)	SP4 (G132R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264370	NM_003112.5(SP4):c.481G>A (p.Gly161Ser)	SP4 (G144S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545375	NM_003112.5(SP4):c.505C>T (p.Pro169Ser)	SP4 (P152S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321712	NM_003112.5(SP4):c.628G>A (p.Ala210Thr)	SP4 (A210T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411108	NM_003112.5(SP4):c.709G>A (p.Val237Ile)	SP4 (V220I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770184	NM_003112.5(SP4):c.721C>G (p.Leu241Val)	SP4 (L224V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3321709	NM_003112.5(SP4):c.731A>T (p.Gln244Leu)	SP4 (Q244L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374216	NM_003112.5(SP4):c.745A>G (p.Thr249Ala)	SP4 (T249A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167925	NM_003112.5(SP4):c.760G>C (p.Val254Leu)	SP4 (V237L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512415	NM_003112.5(SP4):c.900A>C (p.Leu300Phe)	SP4 (L283F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315675	NM_003112.5(SP4):c.905C>T (p.Ser302Phe)	SP4 (S302F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167927	NM_003112.5(SP4):c.925A>G (p.Thr309Ala)	SP4 (T309A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2615337	NM_003112.5(SP4):c.940A>G (p.Met314Val)	SP4 (M1V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617026	NM_003112.5(SP4):c.986C>T (p.Ser329Leu)	SP4 (S16L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041019	NM_003112.5(SP4):c.1043C>G (p.Ala348Gly)	SP4 (A331G +2 more)	Single nucleotide variant (missense variant)	SP4-related disorder	GLikely benign
Select item 2251554	NM_003112.5(SP4):c.1066G>C (p.Glu356Gln)	SP4 (E43Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167911	NM_003112.5(SP4):c.1072A>G (p.Thr358Ala)	SP4 (T341A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237835	NM_003112.5(SP4):c.1107G>C (p.Glu369Asp)	SP4 (E352D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385971	NM_003112.5(SP4):c.1115C>T (p.Ala372Val)	SP4 (A355V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321708	NM_003112.5(SP4):c.1124C>T (p.Ser375Phe)	SP4 (S375F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305412	NM_003112.5(SP4):c.1152G>C (p.Gln384His)	SP4 (Q367H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167912	NM_003112.5(SP4):c.1207A>G (p.Ile403Val)	SP4 (I403V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167913	NM_003112.5(SP4):c.1232A>G (p.Gln411Arg)	SP4 (Q411R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516180	NM_003112.5(SP4):c.1261C>G (p.Pro421Ala)	SP4 (P404A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388781	NM_003112.5(SP4):c.1271C>T (p.Ser424Leu)	SP4 (S424L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167915	NM_003112.5(SP4):c.1274T>G (p.Phe425Cys)	SP4 (F425C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167916	NM_003112.5(SP4):c.1278A>C (p.Gln426His)	SP4 (Q113H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167917	NM_003112.5(SP4):c.1414G>C (p.Val472Leu)	SP4 (V159L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487110	NM_003112.5(SP4):c.1431T>G (p.Ile477Met)	SP4 (I477M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384629	NM_003112.5(SP4):c.1558A>G (p.Ile520Val)	SP4 (I520V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535793	NM_003112.5(SP4):c.1564T>A (p.Leu522Met)	SP4 (L209M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167918	NM_003112.5(SP4):c.1660A>G (p.Thr554Ala)	SP4 (T537A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167919	NM_003112.5(SP4):c.1672G>A (p.Val558Ile)	SP4 (V245I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321707	NM_003112.5(SP4):c.1723A>G (p.Ile575Val)	SP4 (I575V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321710	NM_003112.5(SP4):c.1837G>C (p.Glu613Gln)	SP4 (E300Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365866	NM_003112.5(SP4):c.1870G>A (p.Ala624Thr)	SP4 (A607T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167920	NM_003112.5(SP4):c.1942A>G (p.Ile648Val)	SP4 (I335V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 222968	NM_003112.5(SP4):c.2068C>T (p.Arg690Trp)	SP4 (R690W +2 more)	Single nucleotide variant (missense variant)	Monoclonal B-Cell Lymphocytosis	GUncertain significance
Select item 3321711	NM_003112.5(SP4):c.2108G>T (p.Gly703Val)	SP4 (G390V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610280	NM_003112.5(SP4):c.2317G>A (p.Ala773Thr)	SP4 (A756T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 2424085	NC_000007.13:g.(?_20994491)_(23030730_?)del	CDCA7L, DNAH11 +7 more	Deletion	Hypomyelination and Congenital Cataract +1 more	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 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1410399	NC_000007.13:g.(?_20994491)_(23213917_?)dup	CDCA7L, DNAH11 +9 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 814946	GRCh37/hg19 7p15.3(chr7:21483799-21542891)x1	SP4	Copy number loss	not provided	GUncertain significance
Select item 687757	GRCh37/hg19 7p15.3(chr7:21551586-21690078)x3	DNAH11, SP4	Copy number gain	not provided	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 563419	GRCh37/hg19 7p21.2-15.3(chr7:14544155-21719929)x3	AGR3, TSPAN13 +23 more	Copy number gain	not provided	GPathogenic
Select item 563276	GRCh37/hg19 7p15.3(chr7:21538066-21596876)x1	DNAH11, SP4	Copy number loss	not provided	GUncertain significance
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 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 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 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	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
Select item 221822	GRCh37/hg19 7p15.3(chr7:21483605-21589243)x3	DNAH11, SP4	Copy number gain	Premature ovarian failure	GUncertain significance

ClinVar

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Items: 91