17443[HGNC] - ClinVar

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Items: 68

	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 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	LOC129998373, LOC129998374 +231 more	Copy number loss	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 58547	GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1	ADCY1, CAMK2B +95 more	Copy number loss	See cases	GPathogenic
Select item 145645	GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1	ABCA13, ADCY1 +200 more	Copy number loss	See cases	GPathogenic
Select item 3063593	NC_000007.14:g.45043702_46521017delins[AGAAGGAAATTT;45310743_46521014;45043709_45310738inv]	ADCY1, CCDC201 +27 more	Indel	Cerebral cavernous malformation 2	GPathogenic
Select item 3174909	NM_004749.4(TBRG4):c.1864C>T (p.Arg622Cys)	TBRG4 (R512C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533951	NM_004749.4(TBRG4):c.1774G>A (p.Ala592Thr)	TBRG4 (A592T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373860	NM_004749.4(TBRG4):c.1687T>A (p.Phe563Ile)	TBRG4 (F574I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174908	NM_004749.4(TBRG4):c.1645A>G (p.Thr549Ala)	TBRG4 (T560A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228455	NM_004749.4(TBRG4):c.1609G>A (p.Val537Ile)	TBRG4 (V427I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324827	NM_004749.4(TBRG4):c.1597G>A (p.Glu533Lys)	TBRG4 (E544K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324826	NM_004749.4(TBRG4):c.1594G>A (p.Gly532Ser)	TBRG4 (G422S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174907	NM_004749.4(TBRG4):c.1532G>T (p.Ser511Ile)	TBRG4 (S511I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324825	NM_004749.4(TBRG4):c.1519G>A (p.Ala507Thr)	TBRG4 (A397T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174906	NM_004749.4(TBRG4):c.1493A>C (p.Glu498Ala)	TBRG4 (E498A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325095	NM_004749.4(TBRG4):c.1475T>C (p.Leu492Pro)	TBRG4 (L492P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533950	NM_004749.4(TBRG4):c.1466T>A (p.Val489Glu)	TBRG4 (V500E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174905	NM_004749.4(TBRG4):c.1412C>A (p.Pro471His)	TBRG4 (P361H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333753	NM_004749.4(TBRG4):c.1399G>A (p.Glu467Lys)	TBRG4 (E357K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174904	NM_004749.4(TBRG4):c.1397C>T (p.Pro466Leu)	TBRG4 (P356L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249519	NM_004749.4(TBRG4):c.1392G>C (p.Glu464Asp)	TBRG4 (E475D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377849	NM_004749.4(TBRG4):c.1309A>G (p.Ile437Val)	TBRG4 (I437V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227271	NM_004749.4(TBRG4):c.1270G>A (p.Glu424Lys)	TBRG4 (E435K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393311	NM_004749.4(TBRG4):c.1163A>G (p.Gln388Arg)	TBRG4 (Q278R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776220	NM_004749.4(TBRG4):c.1113C>T (p.Ser371=)	TBRG4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2204508	NM_004749.4(TBRG4):c.1097T>C (p.Leu366Pro)	TBRG4 (L366P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208072	NM_004749.4(TBRG4):c.811C>T (p.Arg271Trp)	TBRG4 (R271W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468371	NM_004749.4(TBRG4):c.787G>C (p.Val263Leu)	TBRG4 (V263L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174914	NM_004749.4(TBRG4):c.782T>C (p.Val261Ala)	TBRG4 (V261A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512194	NM_004749.4(TBRG4):c.722G>A (p.Arg241His)	TBRG4 (R241H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544869	NM_004749.4(TBRG4):c.679G>A (p.Val227Ile)	TBRG4 (V227I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174913	NM_004749.4(TBRG4):c.558C>G (p.Phe186Leu)	TBRG4 (F186L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2533585	NM_004749.4(TBRG4):c.538A>G (p.Lys180Glu)	TBRG4 (K180E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174912	NM_004749.4(TBRG4):c.528G>A (p.Met176Ile)	TBRG4 (M187I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174911	NM_004749.4(TBRG4):c.523C>A (p.Arg175Ser)	TBRG4 (R175S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174910	NM_004749.4(TBRG4):c.408T>A (p.Ser136Arg)	TBRG4 (S136R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303301	NM_004749.4(TBRG4):c.205G>A (p.Glu69Lys)	TBRG4 (E69K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725589	NM_004749.4(TBRG4):c.184C>A (p.Arg62=)	TBRG4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2512920	NM_004749.4(TBRG4):c.180G>C (p.Lys60Asn)	TBRG4 (K60N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324829	NM_004749.4(TBRG4):c.176A>G (p.Glu59Gly)	TBRG4 (E70G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543136	NM_004749.4(TBRG4):c.104C>A (p.Ala35Asp)	TBRG4 (A35D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590604	NM_004749.4(TBRG4):c.95C>G (p.Ala32Gly)	TBRG4 (A43G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324824	NM_004749.4(TBRG4):c.52C>T (p.Arg18Cys)	TBRG4 (R29C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305728	NM_004749.4(TBRG4):c.29C>T (p.Thr10Met)	TBRG4 (T10M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245902	NC_000007.13:g.(?_43810758)_(45977174_?)del	ADCY1, AEBP1 +31 more	Deletion	not provided	GUncertain significance
Select item 2685239	GRCh37/hg19 7p14.1-12.3(chr7:42516660-46202495)x1	ADCY1, AEBP1 +38 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 1527358	GRCh37/hg19 7p13(chr7:44765589-45364793)	CCM2, H2AZ2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1527356	GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656)	ABCA13, ADCY1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1047889	GRCh37/hg19 7p13-12.2(chr7:43341583-50171623)	MRPS24, MYL7 +46 more	Copy number loss	Intracranial hemorrhage	GPathogenic
Select item 1047885	GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566)	ADCY1, AEBP1 +44 more	Copy number loss	Neurodevelopmental delay +2 more	GPathogenic
Select item 814969	GRCh37/hg19 7p13(chr7:44990619-45233464)x3	CCM2, NACAD +5 more	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 563370	GRCh37/hg19 7p13-12.3(chr7:45138764-45765279)x1	TBRG4, ADCY1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 443181	GRCh37/hg19 7p13(chr7:44688036-45364793)x3	CCM2, H2AZ2 +10 more	Copy number gain	See cases	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 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 394005	GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1	ZMIZ2, ADCY1 +41 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: 68