ClinVar for Gene (Select 3484) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063593	NC_000007.14:g.45043702_46521017delins[AGAAGGAAATTT;45310743_46521014;45043709_45310738inv]	LOC129998399, LOC129998400 +27 more	Indel	Cerebral cavernous malformation 2	GPathogenic
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 2484757	NM_000596.4(IGFBP1):c.662T>C (p.Met221Thr)	IGFBP1 (M221T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412536	NM_000596.4(IGFBP1):c.118C>T (p.Leu40Phe)	IGFBP1 (L40F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354935	NM_000596.4(IGFBP1):c.388A>C (p.Thr130Pro)	IGFBP1 (T130P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351220	NM_000596.4(IGFBP1):c.317A>C (p.Gln106Pro)	IGFBP1 (Q106P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2343756	NM_000596.4(IGFBP1):c.242G>T (p.Gly81Val)	IGFBP1 (G81V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337636	NM_000596.4(IGFBP1):c.482C>T (p.Ser161Leu)	IGFBP1 (S161L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328025	NM_000596.4(IGFBP1):c.203G>A (p.Gly68Asp)	IGFBP1 (G68D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240582	NM_000596.4(IGFBP1):c.727C>G (p.Pro243Ala)	IGFBP1 (P243A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 814970	GRCh37/hg19 7p12.3(chr7:45895448-46380286)x3	IGFBP1, IGFBP3	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 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	ABCA13, ABCB5 +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	ADCY1, AEBP1 +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
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	ABCA13, ADCY1 +380 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	LOC126860033, LOC126860034 +426 more	Copy number loss	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 145645	GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1	LOC113748397, LOC113748398 +200 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 58547	GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1	ADCY1, CAMK2B +95 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 30