30037[HGNC] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	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 2326864	NM_001197026.2(PLEKHA8):c.38G>A (p.Ser13Asn)	LOC129998171, PLEKHA8 (S13N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286548	NM_001197026.2(PLEKHA8):c.76A>G (p.Ile26Val)	PLEKHA8 (I26V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536794	NM_001197026.2(PLEKHA8):c.78A>G (p.Ile26Met)	PLEKHA8 (I26M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521825	NM_001197026.2(PLEKHA8):c.329C>G (p.Thr110Ser)	PLEKHA8 (T110S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348697	NM_001197026.2(PLEKHA8):c.450T>A (p.Asp150Glu)	PLEKHA8 (D150E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527691	NM_001197026.2(PLEKHA8):c.517G>A (p.Ala173Thr)	PLEKHA8 (A173T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294527	NM_001197026.2(PLEKHA8):c.659G>A (p.Cys220Tyr)	PLEKHA8 (C21Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328797	NM_001197026.2(PLEKHA8):c.748A>G (p.Ile250Val)	PLEKHA8 (I250V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317407	NM_001197026.2(PLEKHA8):c.752A>G (p.Asp251Gly)	PLEKHA8 (D52G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610017	NM_001197026.2(PLEKHA8):c.808A>G (p.Ile270Val)	PLEKHA8 (I101V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207087	NM_001197026.2(PLEKHA8):c.851A>G (p.Asn284Ser)	PLEKHA8 (N115S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2215296	NM_001197026.2(PLEKHA8):c.868G>A (p.Gly290Arg)	PLEKHA8 (G121R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325989	NM_001197026.2(PLEKHA8):c.902G>T (p.Trp301Leu)	PLEKHA8 (W301L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352400	NM_001197026.2(PLEKHA8):c.939T>A (p.Ser313Arg)	PLEKHA8 (S313R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459820	NM_001197026.2(PLEKHA8):c.1058T>C (p.Val353Ala)	PLEKHA8 (V353A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387057	NM_001197026.2(PLEKHA8):c.1077G>A (p.Met359Ile)	PLEKHA8 (M160I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477349	NM_001197026.2(PLEKHA8):c.1428C>G (p.Asp476Glu)	PLEKHA8 (D476E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232340	NM_001197026.2(PLEKHA8):c.1439A>G (p.Glu480Gly)	PLEKHA8 (E480G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360861	NM_001197026.2(PLEKHA8):c.1534G>A (p.Gly512Arg)	PLEKHA8 (G512R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063000	GRCh37/hg19 7p14.3(chr7:28940557-31806164)x3	ADCYAP1R1, AQP1 +21 more	Copy number gain	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 1809379	GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1	ADCYAP1R1, AQP1 +50 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 1703687	GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069)	ADCYAP1R1, AQP1 +55 more	Copy number loss	Cyclical vomiting syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527345	GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	ADCYAP1R1, AMPH +53 more	Copy number gain	not specified	GLikely pathogenic
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 1401428	NC_000007.13:g.(?_30054351)_(31018859_?)dup	AQP1, CRHR2 +10 more	Duplication	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 979761	GRCh37/hg19 7p14.3(chr7:29758030-31318843)x3	GHRHR, GGCT +13 more	Copy number gain	not provided	GLikely pathogenic
Select item 814950	GRCh37/hg19 7p14.3(chr7:29803827-30071557)x3	WIPF3, PLEKHA8 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814949	GRCh37/hg19 7p15.1-14.3(chr7:28487175-32037495)x3	GHRHR, INMT +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 814947	GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1	FKBP14, HNRNPA2B1 +61 more	Copy number loss	not provided	GPathogenic
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 599189	NC_000007.13:g.23236782_30690453del7453672	NFE2L3, NOD1 +53 more	Deletion	Silver Russell Syndrome-related disorder	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 441970	GRCh37/hg19 7p14.3(chr7:29751912-30452918)x3	FKBP14, MTURN +4 more	Copy number gain	See cases	GUncertain significance
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 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 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: 46