ClinVar for Gene (Select 340277) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277381	NM_199136.5(FAM221A):c.847G>A (p.Ala283Thr)	FAM221A (A283T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277380	NM_199136.5(FAM221A):c.145C>T (p.Arg49Cys)	FAM221A (R49C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277379	NM_199136.5(FAM221A):c.185C>T (p.Thr62Ile)	FAM221A (T62I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092315	NM_199136.5(FAM221A):c.832A>G (p.Lys278Glu)	FAM221A (K278E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092314	NM_199136.5(FAM221A):c.734C>T (p.Thr245Met)	FAM221A (T245M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092313	NM_199136.5(FAM221A):c.631G>A (p.Gly211Arg)	FAM221A (G153R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092312	NM_199136.5(FAM221A):c.523A>G (p.Arg175Gly)	FAM221A (R117G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092311	NM_199136.5(FAM221A):c.50A>G (p.Tyr17Cys)	FAM221A, LOC129998087 (Y17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092310	NM_199136.5(FAM221A):c.313G>A (p.Gly105Ser)	FAM221A (G47S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092309	NM_199136.5(FAM221A):c.269C>T (p.Ala90Val)	FAM221A (A32V +1 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 2657350	NM_199136.5(FAM221A):c.633del (p.Ile212fs)	FAM221A (I154fs +1 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2604448	NM_199136.5(FAM221A):c.56A>C (p.Glu19Ala)	FAM221A, LOC129998087 (E19A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554072	NM_199136.5(FAM221A):c.389C>T (p.Ala130Val)	FAM221A (A72V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540779	NM_199136.5(FAM221A):c.790G>A (p.Asp264Asn)	FAM221A (D228N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488668	NM_199136.5(FAM221A):c.698A>G (p.Lys233Arg)	FAM221A (K233R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481034	NM_199136.5(FAM221A):c.307G>C (p.Val103Leu)	FAM221A (V45L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398417	NM_199136.5(FAM221A):c.545T>C (p.Val182Ala)	FAM221A (V182A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355218	NM_199136.5(FAM221A):c.181C>T (p.Pro61Ser)	FAM221A (P61S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273510	NM_199136.5(FAM221A):c.578G>C (p.Gly193Ala)	FAM221A (G135A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270966	NM_199136.5(FAM221A):c.287C>T (p.Pro96Leu)	FAM221A (P38L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253298	NM_199136.5(FAM221A):c.140C>G (p.Pro47Arg)	FAM221A (P47R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245907	NM_199136.5(FAM221A):c.109G>A (p.Glu37Lys)	FAM221A (E37K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222030	NM_199136.5(FAM221A):c.338A>G (p.Tyr113Cys)	FAM221A (Y113C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207949	NM_199136.5(FAM221A):c.73G>A (p.Gly25Ser)	FAM221A (G25S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808336	GRCh37/hg19 7p15.3(chr7:23701717-24303807)x3	FAM221A, STK31	Copy number gain	not provided	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 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1340094	GRCh37/hg19 7p15.3(chr7:23583145-23848876)x3	CCDC126, FAM221A +1 more	Copy number gain	not provided	GUncertain significance
Select item 979765	GRCh37/hg19 7p15.3(chr7:23680359-23812283)x1	FAM221A, STK31 +1 more	Copy number loss	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 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	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 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 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
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 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 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 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 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 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 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 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 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 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

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Links from Gene

Items: 55