ClinVar for Gene (Select 23366) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3123939	NM_001199706.2(MATCAP2):c.959A>G (p.His320Arg)	MATCAP2 (H320R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123938	NM_001199706.2(MATCAP2):c.580A>G (p.Thr194Ala)	MATCAP2 (T245A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123937	NM_001199706.2(MATCAP2):c.563T>C (p.Leu188Ser)	MATCAP2 (L188S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123936	NM_001199706.2(MATCAP2):c.557G>A (p.Cys186Tyr)	MATCAP2 (C237Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123935	NM_001199706.2(MATCAP2):c.490C>G (p.Pro164Ala)	MATCAP2 (P164A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123933	NM_001199706.2(MATCAP2):c.485C>T (p.Thr162Ile)	MATCAP2 (T162I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123932	NM_001100425.2(MATCAP2):c.49C>A (p.Arg17Ser)	ANLN, MATCAP2 (R17S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123931	NM_001199706.2(MATCAP2):c.290A>G (p.Asp97Gly)	MATCAP2 (D97G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3123930	NM_001199706.2(MATCAP2):c.142G>T (p.Asp48Tyr)	MATCAP2 (D48Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3123929	NM_001199706.2(MATCAP2):c.1492C>T (p.His498Tyr)	MATCAP2 (H256Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123927	NM_001199706.2(MATCAP2):c.1264G>A (p.Ala422Thr)	MATCAP2 (A322T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123926	NM_001199706.2(MATCAP2):c.1081C>G (p.Pro361Ala)	MATCAP2 (P119A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062981	GRCh37/hg19 7p14.3-14.1(chr7:33478398-39686397)x1	AMPH, ANLN +22 more	Copy number loss	not specified	GLikely pathogenic
Select item 3054444	NM_018685.5(ANLN):c.9G>C (p.Pro3=)	MATCAP2, ANLN (R14G)	Single nucleotide variant (missense variant +1 more)	ANLN-related disorder	GLikely benign
Select item 2744621	NM_018685.5(ANLN):c.18+15G>T	ANLN, MATCAP2 (R6S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2662490	NM_018685.4(ANLN):c.-201G>T	ANLN, MATCAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2606082	NM_001199706.2(MATCAP2):c.221A>G (p.Gln74Arg)	MATCAP2 (Q74R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2552094	NM_001199706.2(MATCAP2):c.388A>C (p.Ser130Arg)	MATCAP2 (S130R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518403	NM_001199706.2(MATCAP2):c.239C>T (p.Ser80Phe)	MATCAP2 (S118F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2493406	NM_001199706.2(MATCAP2):c.944C>G (p.Ser315Cys)	MATCAP2 (S318C +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2489011	NM_001199706.2(MATCAP2):c.952C>T (p.Arg318Cys)	MATCAP2 (R270C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468946	NM_001199706.2(MATCAP2):c.200A>C (p.Lys67Thr)	MATCAP2 (K105T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2459963	NM_001199706.2(MATCAP2):c.356G>A (p.Arg119Gln)	MATCAP2 (R157Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2454423	NM_001199706.2(MATCAP2):c.709A>C (p.Lys237Gln)	MATCAP2 (K288Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809148	GRCh37/hg19 7p14.2-14.1(chr7:36374178-37923116)x1	ANLN, AOAH +4 more	Copy number loss	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 1527350	GRCh37/hg19 7p14.2(chr7:35915460-36766683)	ANLN, AOAH +3 more	Copy number loss	not specified	GUncertain significance
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 1473279	NM_018685.5(ANLN):c.18+3G>A	ANLN, MATCAP2 (H10Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1412049	NC_000007.13:g.(?_36429636)_(37956139_?)dup	ANLN, AOAH +5 more	Duplication	Primary ciliary dyskinesia 6	GUncertain significance
Select item 1204756	NC_000007.14:g.36389688C>G	ANLN, MATCAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201038	NC_000007.14:g.36389691G>A	ANLN, MATCAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1115262	NM_018685.5(ANLN):c.8C>T (p.Pro3Leu)	ANLN, MATCAP2 (P3L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 563420	GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	PPP1R17, NPSR1-AS1 +51 more	Copy number gain	not provided	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 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 395336	GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1	AEBP1, AMPH +54 more	Copy number loss	See cases	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 151578	GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	AMPH, ANLN +229 more	Copy number loss	See cases	GPathogenic
Select item 149132	GRCh38/hg38 7p14.2-14.1(chr7:35460776-42013800)x1	AMPH, ANLN +197 more	Copy number loss	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 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 49